Although descriptions of congenitally malformed hearts date back more than 200 years, the field of pediatric cardiology began to rapidly change in the 1950s, when surgical interventions to treat congenital heart disease (CHD) were created. The development of cardiopulmonary bypass was revolutionary and allowed treatment of previously untreatable diseases. These were innovative, exciting, and challenging times. However, many if not all innovative contributions such as cardiopulmonary bypass, allograft conduit placements, or major changes in management (such as the transition from atrial to arterial switch) would no longer be supported or tolerated in the current era including supervisory and regulatory oversight, transparency of outcomes, and the switch from paternalistic medicine to family-centered care. Concerns for protecting the vulnerable patient-subject and ensuring appropriate oversight and regulation of research and innovation have changed how new techniques, medicines, and technology are introduced.
Of additional historical relevance are the debates over the ethical appropriateness of treating patients who were facing certain death, with surgical interventions that came with a high risk of mortality and morbidity. Early debates focused on the treatment of hypoplastic left heart syndrome (HLHS) in which many argued that it was unethical to pursue treatment. Pushing forward in the face of such critique influenced future directions. With improvement of outcomes, the debate on HLHS resurfaced with some arguing that it was unethical to fail to provide surgical intervention. Despite debate, broad agreement is that compassionate terminal care (noninterventional) ( Table 83.1 ) remains an option for HLHS currently, although this may need future reconsideration if improvements in both short- and long-term outcome continue. Multiple other cardiac diseases have similar or worse outcomes, and yet the debate on HLHS continues to garner special focus in the medical field and the media. These challenges are akin to the focus on treatments in trisomy 21 in the 1960s and on treating patients with trisomy 13 (T13) and trisomy 18 (T18) in the current era.
|Palliative care||Symptom management to maximize comfort and minimize suffering, pain, or discomfort. Focus is placed on quality of life and the burdens of disease and illness and its related treatment|
|Palliative care team||Multidisciplinary team involved in providing palliative care services that may include palliative care specialist physician, nurse, nurse practitioner, social worker, or chaplain.|
|Palliative surgery||Surgical interventions to address congenital heart disease (CHD) that will, for example, likely provide a reduction in current symptom burden and generally provide life prolongation. It is surgery that is not “curative” or cannot “repair” the underlying anatomic defects in the setting of CHD.|
|Compassionate terminal care, palliative end of life care||Forgoing interventions that are unlikely to promote meaningful life prolongation. Forgoing interventions that may provide life prolongation but with a low quality of life and/or high degree of suffering. Focus is on pain and symptom management across the remaining course of the illness. |
Often referred to as “comfort care.”
This would be congruent with withholding life-sustaining therapies in many instances.
|Withdrawal life-sustaining therapy||Discontinuing life-sustaining therapies or technologies—includes but is not limited to mechanical circulatory support, ventilator, renal replacement therapy, and inotropic support.|
The history of these debates and conundrums has shaped the field of pediatric cardiology. In the current era, survival is largely expected. With survival, comes an increasing need to examine the burdens of therapy, the need for collaborative work across institutions to understand and improve short- and long-term outcomes, and the need to increase end of life (EOL) and palliative care skill set among pediatric cardiologists and other caregivers. It also requires continuing education in a broad range of ethical issues. Ongoing innovation in pediatric cardiology and elsewhere in medicine, along with the development of the field of biomedical ethics, currently requires care providers to achieve an increased facility and comfort with ethical reflection and discourse.
This chapter aims to review a breadth of topics within pediatric cardiology that involve ethical quandaries, including genetic testing, fetal intervention, and treatment of severe genetic conditions. It will also review cultural and moral diversity, shared decision-making and decision support, permissibility for withdrawal of life-sustaining technologies (WLSTs) and devices, EOL considerations and care, moral distress and resilience of health care teams, and the ethics surrounding transplantation. Finally, a brief review of important social justice considerations is undertaken. Ethical considerations faced in pediatric cardiology are mirrored in all aspects of pediatric care. By considering the applied ethics specific to some areas of pediatric cardiology, the aim is to provide the reader a better understanding of the ethical issues intendant to the field.
Language of Palliative Care
The word palliative is derived from the Latin “to cloak” and is meant to encompass the treatment of pain and discomfort to minimize symptoms and maximize comfort. In the pediatric cardiac community, the term palliative has taken many different forms, including its application to aggressive or intensive treatment that we frequently refer to as palliative surgery and also when describing a nonintervention, as with palliative care . The dichotomous nature of this language can be confusing and problematic. The focus of palliative care is to improve quality of life (QOL) with supportive and comfort measures while an underlying illness runs its course. This may require equally intense focus both on full recovery and cure (which may involve interventions including invasive ones) while simultaneously working toward an improvement in QOL. In addition, palliative care focuses on longitudinal support of the patient and family and support for decision-making across life-limiting illnesses, as well as EOL care. (See also Pediatric Palliative Care and Cardiac Disease section .) Caution should be used when describing “comfort care” because, although it commonly refers to noninterventional EOL support, the label could imply a lack of focus on patient comfort and reduction of pain during traditional aggressive care. Therefore this chapter uses the imprecise but consistent terms interventional therapy and interventional procedures for surgeries that directly address the underlying heart disease. We refer to palliative EOL care or compassionate terminal care as pathways that involve medical therapies to maximize comfort and reduce the negative sequelae of disease burden without applying surgical or interventional techniques to directly modify the underlying heart disease (see Table 83.1 ).
Ethics of Genetic Testing and Unique Features of Congenital Heart Disease
Genetic testing has continued to advance at a dizzying pace, particularly in North America, creating both significant opportunities and challenges for providers and families. The testing has become less expensive while being more comprehensive with a speed that outpaces a provider’s ability to give accurate and meaningful interpretation. Historical context, current availability, and some of the ethical challenges and recommendations associated with genetic testing in CHD are described next.
Many of the issues remain from those raised by the sentinel 1998 article where Goldmuntz described a large proportion of patients with conotruncal defects with a 22q11.2 deletion syndrome. The article recommended wide routine screening for the presence of the microdeletion for at risk neonates, arguing families and providers would want to know if their child was also at risk for the frequently associated developmental, speech and feeding difficulties, and late incidence of schizophrenia, as well as hypocalcemia and immune disorders. The argument against large-scale screening at the time highlighted the variability of the phenotypic spectrum, whether the knowledge of the deletion could really predict outcomes, how knowledge would affect carriers, the importance of genetic counseling, and risk of discrimination from insurance companies and employers.
Since the Goldmuntz article and subsequent review, more studies have concluded that patients with CHD and genetic syndromes have worse outcomes and higher mortality than those with CHD alone. Those with an associated genetic cause have inferior operative outcomes, longer hospitalizations, greater length of stay in intensive care units (ICUs), and greater resource utilization. Several studies have found that children with CHD and chromosomal abnormalities had significantly lower median scores for total pediatric QOL, physical summary scores, and school functioning and significant challenges in the cognitive social and emotional domains. As knowledge increased about the effect of syndromes and disorders on important outcomes, parents and clinicians have increasingly wanted to obtain this information as soon as possible.
Genetic Tests and CHD
Genetic tests can by divided into three main types: (1) those identifying large chromosomal deletions or duplications by karyotype (e.g., trisomy 21); (2) those identifying subtle microdeletions and duplications using fluorescence in situ hybridization or cytogenic microarray (e.g., 22q11.2, Williams syndrome); and (3) single gene testing or whole exome sequencing. Specific genetic panels are currently available for certain single gene disorders such as those seen in cardiomyopathy and arrhythmias and syndromic CHD (such as Holt-Oram, Noonan, Alagile, Kabuki, and isomerism, as well as certain associations of congenital abnormalities such as those described as CHARGE and VACTERL associations). The most comprehensive whole genome sequencing (or microarrays of the whole exome) can detect single nucleotide changes, insertions, and deletions across the entire genome and are even available in the prenatal period. The sum of testing has produced a whole new class of test results labeled variants of unclear significance. Families and providers are often left with ambiguous understanding of these complex results that have little clinical applicability, and the potential that a negative test has not ruled out a genetic cause. In other cases, incidental findings may lead to clinical justifications to limit highly expensive technologies (e.g., extracorporeal membrane oxygenation [ECMO] or transplant). This genetic technology is still new and hard to interpret, and predictive validity has not been well validated.
Risks of Genetic Testing and Autonomy Considerations
When direct and clear benefit of testing exists for a child, genetic testing is broadly accepted in North America. What is more challenging, and more commonly found, is that no current or specific medical intervention or prevention measure can be provided. Identical pathogenic mutations cause a variety of distinct malformations, implying that higher-order interactions account for specific phenotypes. From an ethicist’s perspective, the right of the parents to have knowledge of their child’s genetic disorder must be weighed with the right of the child to have autonomous decision-making. The child may become the recipient of testing without his or her consent and then lives with the knowledge of future implications. Therefore some recommend to postpone testing until the child can consent. The libertarian perspective might argue that personal autonomy has the highest moral value, whereas a utilitarian perspective argues that moral decisions should be decided by calculating a burden versus benefit ratio from a societal perspective.
The psychosocial impact of genetic testing also bears regard because results of testing may affect family dynamics, psychological burden, self-esteem, alterations of the family’s view of the child, perceived child vulnerability, parent-child bonding, and self and partner blame. Concerns can arise for stigmatization or for legal implications. The United States Genetic Information Non-Discrimination Act instituted in 2009 was a positive step, creating protections against discrimination from insurance companies and employers, although more awareness and advocacy are required to ensure continued protections.
Benefits of Genetic Testing
Knowledge of a genetic disorder provides some clear benefits. The parents and providers may gain the ability to anticipate potential or likely outcomes and medical issues and to undertake early interventions where available. The knowledge of a disorder might help to unify features and events for a family as to understand why certain medical conditions are present. Learning about any increased risk for additional challenges for the child can prepare the family and empower the parents to learn more, pursue research, contribute to advocacy organizations, or galvanize the research community to find a cure. Reproductive counseling regarding future children, as well as screening relatives for affected individuals, also becomes possible.
Although there are several screening guidelines detailing which patients with CHD should be tested, the importance of genetic counseling, particularly during the assent and consent process, cannot be underestimated. When these steps are glossed over, the ethical principles of autonomy, justice, and nonmaleficence ( Table 83.2 ) are jeopardized.
|Autonomy||Respect for persons. Humans are a means unto themselves and not a means to an end. This encompasses the right to be free to make choices about your body.|
|Beneficence||Obligation to contribute to person’s welfare. Interventions and provisions should provide benefit directly to the patient. This focuses on doing things that are of benefit to another. It requires positive steps to help and not merely avoiding doing harm.|
|Nonmaleficence||Obligation not to inflict harm on other persons. Harm is to be avoided or minimized. Underlying tenet of medical professional mission statements (Hippocratic oath).|
|Justice||For health care, this is the distribution of health (and health care) in a fair and equitable manner. This requires attention to prioritization and rationing. There is no one just way to allocate resources, and most systems use several prioritization schemes in concert to attempt to achieve a just distribution.|
General pediatricians and the pediatric cardiac community remain reluctant to incorporate genetic testing as part of their routine clinical care, and the practical reality remains that most clinicians do not have the proper training nor access to staff who can perform appropriate genetic counseling. Selection of the best test can be complicated, and choosing incorrectly can result in wasting time and resources. Coordination of practice between cardiologists and geneticists might help to improve cost utilization and facilitate individualized patient care. Broad access to training is necessary, and more research is required to understand who benefits the most from genetic testing, when testing is optimized, and how to best use a multidisciplinary approach.
Fetal diagnosis and therapy have created treatment opportunities for some fetuses with congenital birth defects—both cardiac and noncardiac. However, it is incumbent on the care provider to consider several ethical issues. These include the autonomy of the pregnant woman, beneficence (see Table 83.2 ) for the pregnant woman, beneficence for the fetus, adequacy of informed consent and prenatal counseling, boundaries between innovation and research, resource allocation, and implications for quality and access due to organizational factors.
Maternal Rights and Fetal Interests
The goal of fetal intervention is to improve the health of children by intervening before birth to correct or treat prenatally diagnosed abnormalities. This implies a beneficence obligation to the fetus. However, the interests of the fetus are inextricably linked to the mother. To intervene on the fetus, one must access through the pregnant woman’s body either by surgical or interventional means, or by having her comply with specific medical therapies. Because intervention on the fetus has implications for the pregnant woman and engenders some risk to her, respect for her person requires that she give explicit consent. For fetal therapy to be ethically permissible, it must therefore be: (1) life-saving, or prevent or mitigate serious or irreversible disease of the future child; (2) of minimal mortality risk for the fetus and low or manageable risk to the future born child; and (3) be of low or manageable risk for mortality and morbidity to the mother.
The pregnant woman also retains a right to informed refusal. In the large majority of cases, maternal and fetal interests are aligned and the mother will choose a beneficence obligation to the fetus, opting for minimally invasive procedures of low risk to herself. However, unlike the parent whose decision may be overridden in favor of the child after birth, even the strongest evidence for fetal benefit would be insufficient to override a pregnant woman’s decision to forgo therapy prior to birth. This follows from a fundamental ethical tenet of the autonomy rights of the person.
It is important to recognize that designation of “fetus as a person” only after birth is highly significant from an ethical perspective and is variable between countries and cultures. Personhood grants full status and rights as a moral being. Should the fetus have moral rights assigned prior to birth, the determination of which moral agents’ rights are dominant—woman or fetus—becomes significantly more difficult. This emotionally charged territory, that often prompts argument based in religious beliefs, is at the crux of abortion debates, and a full exploration is well outside the scope of this chapter. Legal authority, in most high-income nations, remains with the pregnant woman, who has no enforceable duty to choose any specific type of fetal therapy and retains a right to refuse any and all medical interferences with her body.
This does not make obligations to the fetus irrelevant. Although much debate has existed on the definition of “fetus as patient” in so far as this might imply personhood, the concept of “fetus as patient” is generally accepted once the fetus is viable and the decision of a woman to continue or terminate her previable pregnancy has been made. The fetal patient then obliges the physician to attend to fetal beneficence while also attending to obligations of maternal autonomy and maternal beneficence. The balance of these obligations is what limits fetal therapy to severe malformations or potentially lethal conditions in which the fetal therapy has been proven to improve the survival and preserve normal or near normal function of the future child.
Fetal diagnosis and treatment are borne out of innovative practices. However, the heterogeneous nature of the conditions treated, the invasiveness of the proposed intervention, the potential complications to both fetus and mother associated with fetal therapy, and the paucity of data on long-term outcomes significantly complicate the choices of our current therapeutic options and parental decision-making. Furthermore, due to rapid development, technologies for fetal intervention need monitoring and long-term follow-up to protect pregnant women and their fetuses from the risks of unproven therapies. Nonetheless, a procedure is not automatically researched because it is different or untested. It may be undertaken for the specific interests of a specific situation and fetal condition, with full understanding of the untested nature of the intervention and express consent by the pregnant woman. However, after proof of concept is achieved, formal research should be undertaken. If a few cases have indicated that fetal intervention is of sufficient potential benefit to the fetus, of reliably low risk to the pregnant woman, but involves risk for morbidity or death of the fetus, it should be moved into an experimental phase and offered only within a large controlled research trial. Efficacy and safety need to be proved before it can be considered standard of care, and the experimental nature needs to be fully and clearly disclosed to the parent to be ethically appropriate. The parent(s) need to clearly understand that research is for purposes of generalizable knowledge and different than therapeutic goals for cure, treatment, or palliation. A final note is made in that the underlying concepts herein regarding innovative practice are relevant beyond the context of fetal intervention alone.
Fetal Centers and Resource Allocation
Fetal centers are increasingly organized, and a growing enthusiasm continues to drive development in fetal medicine. However, it is important to recognize that these centers operate at high cost and provide benefit to only a very few pregnant women and their fetuses. This has brought into question whether undertaking fetal therapy in fetal centers is a fair distribution of resources. (See also “ Social Justice Considerations in Pediatric Cardiology ” section.) However, there is a lack of data to truly inform cost effectiveness of fetal intervention at this time. In addition, if a fetal intervention is not performed in most instances and the prenatal counseling constitutes the main component of care, it may justify the resource utilization with or without cost-effectiveness data. Finally, balancing a limitation of fetal interventions to a few specialized centers that maintain quality and expertise due to higher patient volume against the geographical and financial barriers that then may limit access is difficult and currently unresolved. Regardless, collaborative research networks are needed, particularly for rare diseases and procedures, to cumulate more robust short- and long-term maternal and fetal outcome data so as to inform this debate.
One of the most important roles of the fetal cardiologist regarding fetal intervention is that of prenatal counseling. The need for interdisciplinary counseling and provision of care for pregnant women who are candidates for fetal therapy has been emphasized on many fronts. Reducing variability in prenatal care and counseling may improve quality of care overall to mother and fetus, as well as future child, and better meets the ethical duty for fully informed consent.
Counseling should involve sharing information that is thorough and unbiased, with acknowledgment of the paucity of data on fetal outcomes, conflicts in data, risks and benefits to the fetus and mother, risks and benefits of standard obstetric care, and outcomes of standard neonatal interventions. In addition, a range of outcomes beyond the technical success of the procedure should be well described. Ideally, this is done by a multidisciplinary team, particularly due to differences in knowledge of results of fetal and standard therapies and varying impressions of longer-term outcomes. Some ethicists and clinicians have called for standardized information sheets for prenatal counseling. These would not eliminate the biases of the provider doing counseling necessarily but might ensure a baseline source of accurate information.
A full breadth of options needs to be discussed during counseling. These include pregnancy termination, compassionate terminal care at birth (if appropriate to the CHD diagnosed), fetal intervention (even if not offered at that institution), and standard postnatal intervention. Should pregnancy termination be chosen, appropriate resources and support need to be made available. Where appropriate to the severity of the underlying diagnosis, compassionate terminal care (or hospice) for the neonate may be chosen. Here, the support of palliative care teams, or development of palliative care skills sets within the fetal team, can help to fully inform the parents on pathways of care that are not directed toward intervention. Without an explanation of palliative EOL care services for the newborn, a risk of misunderstanding exists for a stark choice between pregnancy termination and intervention as the only options for parents facing either a diagnosis of severe underlying CHD or other congenital anomalies that impact outcomes. It is also important to recognize that many things are done in the care of the newborn undergoing compassionate terminal care, so as to take away the implications that come in descriptions of doing “nothing” versus “something.” As the capacity to intervene improves outcomes for the newborn, palliative terminal care becomes a less appropriate option.
Finally, it must be recognized that a large variation in counseling is generated by clinician judgments of future QOL. Research indicates that clinicians generally rank QOL much lower than the individuals with a lived experience of the outcome, and in some cases clinician predictions are completely unrelated to later measurements. Because a child is affected by not only cognitive or physical limitations but also by family attitudes, values, and environment, it is necessary to consider family input in determining best interests ( Table 83.3 ) of the future child and aiding in decisions about the breadth of options for the fetus.
|Capacity||A patient with capacity is able to understand and appreciate both the illness or injury described to him or her, potential treatment options, and the implications of consenting or refusing them. Many jurisdictions also require that a process of reasoning can be used by the patient also as to how they balance benefits, risks, and potential outcomes. It is important to distinguish between the capable patient who disagrees with medical recommendations and the one who is incapable of understanding and appreciating the information.|
|Surrogate decision maker (SDM)||The decision maker for a patient who lacks capacity due to illness, cognitive ability, or age. This is referred to as a substitute decision maker in some jurisdictions. In addition, capable people can defer decision making to an SDM.|
|Substituted decision||This is different than a substitute decision maker (see above). |
This describes a decision, made by SDMs, that represents the decision the patient themselves would have made should they have had the capacity to do so in that moment in that condition. Ideally, the SDM always makes a substituted decision. However, when the patient’s wishes are not known, the surrogate is to make the decision in the best interests of the patient (see below).
|Decisional authority||The capable patient has decision-making authority. However, if the patient is incapable, the SDM has decisional authority. In youth, adolescents, and young adults, there may be specifications for legal decisional authority based on age rather than capacity in some jurisdictions. There are often legal dictates on the hierarchy of accepted SDMs in the absence of a legally assigned medical proxy.|
|Best interests||The standard SDMs must use when making health care decisions. For the incapacitated adult who was previously capable but who does not have previously stated/known/documented wishes, or the patient who is incapable and who has never been capable. This concept does not have a strict single definition because it refers to not only physiologic best interests, but the best interests of the patient in the context of the environment they exist in, including the values, preferences, and beliefs of their family.|
Extrauterine physiologic extracorporeal support, where the premature newborn is maintained on umbilical arteriovenous extracorporeal oxygenation and amniotic infusion within a biobag environment at delivery, has been demonstrated successfully in animal models. This technology is being developed in attempts to improve outcomes for edge of viability premature newborns (22–25 weeks gestational age). However, it has the potential to change our impressions of fetal extrauterine viability and may come to challenge legally defined allowances and considerations for gestational age for pregnancy termination.
Finally, many additional ethical considerations are involved in fetal care, including understanding the boundaries of requests for intervention for the pregnant woman’s convenience and not for fetal interests, refusal for interventions recommended for benefit of term fetus, the consideration for fetal interests in the case of maternal harm (e.g., illicit drug use during pregnancy), requests for fetal intervention to reduce cosmetic implications to the future child, and the wide-ranging field of reproductive ethics in general. These have not been discussed but warrant further exploration for interested readers.
Approach to Complex Cardiac Disease in the Setting of Severe Genetic Condition
The high concurrence—approximately 25%—of defined genetic syndromes with complex congenital cardiac disease necessitates that the pediatric cardiac care team be well versed in considering the ethical issues surrounding medical and surgical intervention in these patients.
Changing Landscape With Approach to Trisomy 13 and Trisomy 18
In the current era, the debate is most vociferous about offering cardiac interventions for patients with T13 and T18. Much of the argument centers on the perceived impact of well-defined outcomes on the patient and family, and the degree of cognitive impairment involved with these syndromes. Concerns are voiced about low QOL and increased suffering to the child whose death is imminent. However, studies have provided insights about long-term outcomes of patients with T13/T18, where significant numbers of children with these conditions live beyond 1 year of age. Although true that mortality rate is higher than the general population, patients with T13 or 18 who survived cardiac intervention demonstrated longer survival than previously reported (median survival of 14.8 years in T13 and 16.2 years in T18). Moreover, many programs are offering cardiac interventions to patients with T13 and T18, as shown in a survey in 2011.
Older textbooks continue to report universal mortality before 1 year of age and paint a picture of abysmal QOL. Postoperative recovery for individuals with T13 and T18 may be more difficult and complicated, although outcomes are widely variable. Survivors universally suffer from severe cognitive impairment and other abnormalities, including limb malformations, growth restriction, and myelomeningocele. Given these challenges, some have wondered if it is appropriate to provide life-sustaining interventions for these and similar populations. The most common argument being a value judgment stating that it is unethical to prolong a life with such poor QOL and severe disabilities. What is clear, from an ethics perspective, is that providers must be careful that prediction of life-limiting conditions do not become a self-fulfilling prophecy. This is not unique to trisomy—similar arguments have been made about children with neuromuscular disease and those with myelomeningocele. Fifty years ago, cardiac anomalies in infants with trisomy 21 were not corrected, whereas nowadays they are expected to have life-saving surgery where having an intellectual disability does not disqualify an individual from medical intervention.
The next most common argument against treatment in severe genetic syndromes involves resource allocation (see also “ Resource Allocation ” section). The ethics of using resources for treating patients with genetic challenges is not different from other genetic syndromes or other rare diseases in general. Similar questions are raised with regards to fetal therapy and to postnatal treatment of complex single ventricle CHD, particularly in middle- and low-income nations underscored by high costs and limited outcomes. Allocating access to treatment needs to take into account outcomes and needs to ensure those outcomes are judged fairly. Patients with severe genetic syndromes are vulnerable to exclusion based on negative biases toward cognitive impairment and QOL and an inability to advocate for themselves. The range of cognitive impairment and disability accepted in other diseases without a defined genetic defect, or after intervention or injury might help us to better understand how resources should be justly allocated. Finally, what is often difficult, particularly in pediatrics, is that without treatment of severe illness, death is a certainty. The benefits to future patients with the same disease, and extension of benefit to patients beyond the disease is difficult to measure, particularly early on, and is not reflected in direct cost-effectiveness measures. (See also “ Resource Allocation ” section.)
Parents of children with these conditions, and patients who can comment, tell a very different story. Many have suggested that babies with these conditions have acceptable QOL with ability to communicate and play, enjoy time with family and siblings, and have a positive impact on the lives of their parents. The individual patient and family’s reality probably exists somewhere between the negative view supported by medical sources and the overly optimistic parental sources. We are increasingly understanding that each individual with T13 and T18 has a different manifestation of their disease, and their chances of survival are not just a function of the underlying condition. Parents desire that their fetus and child is treated and seen as a valuable life despite their challenges. Satisfaction is often seen when team members and physicians demonstrate empathy and have good communication skills, some of which can be modified by training and education.
Balancing the appropriateness of intervening, or not, in the setting of severe genetic syndromes whether defined or undefined, or intervening without knowing the implications of the genetic abnormality, is difficult and involves many judgments about burdens, QOL, and best interests. It is important here then to discuss that best interests is not a crisply definable concept (see Table 83.3 ). The best interests judgment for a child contains subjective valuations of what is important with regards to life duration, suffering, and disabilities. These values are upheld within the family the child exists in. Therefore it remains a judgment that often requires understanding a range of potentially acceptable ways to approach the achievement of the best interests for that child. Therefore, in considering therapeutic intervention, the input of the family who will continue to care for the child after leaving hospital needs to be considered in the decision to proceed. For allocations to be just, equal patients must be treated equally. In the setting of severe genetic disease, the most ethically justifiable undertaking is to allow equitable access to therapies with clear, unbiased, and accurate information on the burdens resultant, having gained input on values surrounding suffering, and QOL from the patient’s surrogate decision makers (SDMs), the parents. Whether a course of interventional therapies, compassionate terminal care, or some variation in between is undertaken, follow-up with support to the family for ongoing decision-making and care of the child should be undertaken. Palliative care teams (see Table 83.1 ) can be helpful in understanding family values and impressions of QOL and may be able to maximize the quality of decision-making in these settings. They also may aid with relief in suffering and supportive services, providing palliative EOL care should this be chosen. Finally, if there is a specific ethical question, or if the family and clinical team disagree on the appropriateness of offering or declining therapies, a consult to bioethics should be requested. This can clarify ethical justifications for potential courses of action, assist with resolving conflict over value judgments, or support the team if there is moral distress. (See also “ Bioethics Consultation ” section.)
Cultural and Moral Diversity
Most countries have a population representative of several ethnicities, some with greater diversity than others. Culture influences therapy decisions, choices, and compliance and can encompass a full spectrum of values, behaviors, customs, language, race, ethnicity, gender, sexual orientation, religious beliefs, and socioeconomic status. Knowledge, understanding, and appreciation of patient culture are necessary to support best health outcomes.
Increasingly, culture is viewed as signifying a social community that shares values, beliefs, and practices. This replaces previous views that link culture to ethnicity, religion, or spirituality and better recognizes the great variation of personal interpretation of a specified religion or ethnic group. Questions to explore important beliefs and values or to gain information about how the patient interprets his or her cultural or religious beliefs allow provision of culturally effective care. Several resources are available for guidance in Table 83.4 . Furthermore, culturally effective care extends to understanding views on illness and suffering and to understanding that one could offend certain cultural sensibilities just by the act of disclosure of poor prognosis. If the clinician feels a child needs information but is uncertain about how to navigate family refusal, consulting bioethics or the palliative care team can help.
|Health literacy and communication||www-nih-gov.easyaccess1.lib.cuhk.edu.hk/institutes-nih/nih-office-director/office-communications-public-liaison/clear-communication/health-literacy|
|Multicultural resources for health information||sis-nlm-nih-gov.easyaccess1.lib.cuhk.edu.hk/outreach/multicultural.html|
|Culturally effective pediatric care||pediatrics.aappublications.org.easyaccess1.lib.cuhk.edu.hk/content/114/6/1677|
|Cultural competency training and resources||www.cigna.com/healthcare-professionals/resources-for-health-care-professionals/health-equity|
|Cultural diversity at the end of life||marianjoylibrary.org/Diversity/documents/CulturalDiversityattheEndofLifeIssuesandGuidelines.pdf|
With diversity in culture comes diversity in values and beliefs. The concept whereby several moral values are equally correct and fundamental, even if in conflict, is moral pluralism. This may create differing views about the best interest of a child. Best interests for the child may not be believed to be in line with the course clinicians have recommended (see Table 83.3 ). In respecting these beliefs, clinicians should recognize that moral pluralism does not need to promote moral relativism. Boundaries are generally set where harm to the child comes into question (see also “ Decisional Authority ”). Where views diverge, bioethics consultant, palliative care consultant, social worker, or other health care service with expertise in cultural diversity can often aid with solutions. If there is question of whether family goals or requests (or clinician goals) are morally defensible, consultation from bioethics should be sought.
Shared Decision-Making and Decisional Authority
When parents and families have a child with heart disease, they may face a variety of decisions from the inconsequential to the very difficult. Parents and patients require unique support in decision-making, particularly when considering technology dependence, whether to agree to transplant listing, and in EOL decisions. Clinicians must be attuned and flexible to patient and family needs along this broad and varied spectrum. They must apply emotional intelligence and genuine curiosity in exploring family fears, hopes, experiences, values, and preferences for involvement in a particular decision. The burden might weigh heavily on the provider to synthesize and make recommendations to the family based on their unique circumstances and preferences. Furthermore, throughout the illness, the family must feel their child is seen as a unique and special individual. This is a key element to build a trusting relationship and foundation for each family and provider interaction.
Shared decision-making is a process by which both the patient or parent(s) and the health care team share responsibility for making a good choice for the patient and is widely accepted as standard of care in North America. “Parent” may signify a single parent, a biologic parent(s), nonbiologic parent(s), grandparent(s), adult sibling, legal guardian, or state representative. Within this chapter, the term parents or family is meant to broadly encompass this role.
In shared decision-making, the medical team may present a variety of options to the patient or family, the family may share perspectives, preferences, and values, and the medical team adjusts recommendations accordingly and helps to guide the family to a reasonable decision. A shared decision-making model should enhance medical recommendations while respecting patient autonomy. Insisting on a course of action without considering family input or offering a dispassionate menu of possibilities does not respect patient autonomy, the role of the family in the patient’s life, or the obligation of the physician to provide guidance to the patient or their surrogates. Most often, this process will require a series of conversations, in which consistency in care providers may help to limit confusion, mixed messaging, and review of preferences and roles in the decision-making process. Although some have questioned the appropriateness of “burdening” patient or surrogates in this way, studies demonstrate that both adult patients and parents desire a high degree of involvement in decision-making.
In some countries, physician decisional authority remains absolute. However, in North America, Europe, and elsewhere, adult patients with capacity (see Table 83.3 ) have decisional authority over all aspects of their medical care and can agree to or refuse any therapy or intervention. In pediatric care, the decision-making authority initially might be seated with a parent and then transition to the patient themselves. In most jurisdictions, a legal age of consent dictates when the adolescent or young adult holds decisional authority. However, in some jurisdictions, recognition of the range of ages at which decision capacity may be present has legally designated decisional authority to be solely capacity based. This may mean that for some decisions the parent retains authority and for others the patient has authority dependent on their cognitive capability, maturity, and the clinical situation at hand. Even without legally designated authority, seeking input and assent from the adolescent or young adult is important to respecting their personhood and emerging autonomy.
Should decision authority remain with a parent, as it does for most pediatric patients, it is also important to recognize where that authority is limited. Many ethicists have written on the appropriateness of the parent as SDM, and society grants very wide discretion for parents to make choices for their children. However, there are instances in which parental authority is limited. At times, this restriction of decisional authority is more straightforward, such as in the case of physical abuse, but in other instances it can be less clear.
The scope of what constitutes a child’s best interest is broader than just the single “best” medical option and necessarily requires judgments about suffering, harm, and both current and future QOL (see Table 83.3 ). It has therefore been proposed that a threshold of harm, rather than seeking a maximal best interest of the patient, is more appropriate. In a harm threshold, some range of parental discretion to make decisions that are different than the medical team is allowed. Parental decisions would be limited if, on balance, the child was harmed by their decision. This balance has to additionally consider negative consequences to the child of restricting parental authority. This does not remove subjectivity but may help to frame boundaries of allowed parental decisions more clearly and may help the team to accept parental decisions they find suboptimal.
In some instances, policies exist to guide clinical teams, such as in the instance of patients who are Jehovah’s Witness. If it is unclear where the decisional authority of the SDM should be restricted, bioethics consult can be helpful. In addition, in some hospital systems, designated teams or individuals may exist to specifically provide guidance or support.
Bioethics Consultation and Pediatric Palliative Care
In some cases, uncertainty about the appropriate ethical course of action, differing values and beliefs, and clinician moral distress may hinder collaborative efforts that are essential to providing the best care possible. In these circumstances, all stakeholders involved in the care of the child may benefit from the additional support of a bioethics consult team. This group is separate from the clinical and palliative teams and can foster a safe environment for the exploration of each person’s questions and concerns within an ethically focused context. They can clarify ethical underpinnings and value judgments, help to discern ethically justifiable options, and may be helpful in mediating a shared solution when values appear to be in conflict.
Pediatric Palliative Care and Cardiac Disease
Pediatric palliative care (see Table 83.1 ) is an accredited and growing field that specializes in decreasing the burdens of patients and families living with, and care providers tending to, serious illnesses (see Table 83.1 ). Palliative care teams are multidisciplinary, including advanced practice nurses, social workers, child life specialists, and chaplains, in addition to physicians. Their care is aimed at preventing and treating pain and discomfort, improving QOL, and reducing stressors surrounding the care of the patient. This often additionally reduces stressors and angst for the health care providers.
Pediatric heart disease continues to be a life-limiting condition, and therefore cardiac clinicians need to remain attentive to patient and family goals and values and, where appropriate, provide high-quality EOL care. Collaboration with pediatric palliative care specialists can aid and support this task. In addition, regular collaboration can enhance or build palliative and EOL care skill sets within pediatric cardiac teams. Furthermore, palliative care teams support patients and families in outpatient, inpatient, home and hospice settings and can provide important sources of continuity throughout the course of a serious illness. This can mitigate family experiences of abandonment when primary teams do not appear as actively involved after goals of care transition away from curative therapies.
Palliative care teams are best used as complementary to, but not in place of primary cardiac team care and interventions. Early, consistent and longitudinal involvement of palliative care is essential to providing effective support to the patient and family, as well as the medical team, during the disease progression, in meeting goals for care, and beyond the end of a patient’s life ( Fig. 83.1 ). In addition, pediatric palliative care teams can assist with transition to adult providers and continue involvement through progression to death and bereavement care.
Permissibility of Withdrawal or Discontinuation of Devices
The discontinuation of pacemakers, ventricular assist devices (VADs), and ECMO for purposes of WLST is ethically and legally permissible in North America, Europe, Australia, and elsewhere. These devices, as with any other technologic or medical support, can be refused or discontinued in the same manner as endotracheal tubes, dialysis, chemotherapy, or medications. Legally, there is broad prerogative given for patients to decide the amount and degree of suffering, invasiveness, therapy, and indignities they choose to accept since the US Supreme Court decision allowing the discontinuation of mechanical ventilation occurred in 1976. It has since extended to decisions for withdrawal or withholding therapies including fluids and nutrition and to decisions based on previously expressed wishes, substituted decision, and best interests.
Withdrawal or withholding of life-sustaining therapies is ethically justifiable for several reasons. It can be defended by both deontologic (duty based—the sanctity of life is important but not absolute, so there is no duty to give life-sustaining therapy where there is no benefit) and consequentialist (best consequences in an overall burdens and benefit analysis) moral theories. In addition, it can be defended by balancing the four ethical principles (see Table 83.2 ). Overarching all of these, is the concept that treatments should be in the child’s best interests (see Table 83.3 ). (See also “ Shared Decision-Making ” and “ Decisional Authority ” sections.)
Understanding the autonomy principle here is important. It grants respect to the person to choose what happens to his or her body. Any person with capacity can decide to forgo or stop any technology or therapy even if it is highly efficacious or life-saving. This requires the medical team to review values and reasons for such a request and ensure that appropriate decision-making capacity and legal decisional authority are present prior to enacting a discontinuation of life-sustaining therapies (see Table 83.3 ). The substituted judgment expressed by a surrogate also respects the person in that this choice is the one the patient would have made if he or she were able to have capacity in that moment. The advanced directive legally represents the expressed prior wishes of the autonomous patient, or a medical proxy can be granted by the patient to have this individual make decisions on his or her behalf (see Table 83.3 ).
More often in pediatrics, where the patient will not have the capacity to make such a decision due to age, maturity, or illness, the WLST is based on a best interest judgement. Here the concern is for ongoing harm without benefit. It may be appropriate to stop a therapy in the patients’ best interests when the potential for any benefit is exceedingly low and the potential for accruing ongoing cumulative morbidities and suffering is high. As stated before, best interests considerations have a degree of subjectivity that may entail not only medical efficacy, but judgments of QOL and suffering that may vary between individuals, cultures, and belief systems (see Table 83.3 ).
Ethical justifications for discontinuation of pacemakers, VAD, and ECMO are not different than those for other devices such as ventilators or dialysis machines. The proximity of death does not dictate ethical permissibility. If allowing death to happen is ethically justifiable, how quickly death occurs is incidental. Hence whether death is proximate to the discontinuation of a VAD or to discontinuation of a ventilator, the justification for this discontinuation remains ethically permissible by the same theories and principles.
Further concerns have been raised in considering WLST to be causative of death. The ethical distinction between euthanasia and WLST is largely drawn on grounds of intent versus action, where allowing to die is accepted but deliberately ending life is not. Life support is not withheld to end the patient’s life but rather to respect a decision that any given intervention is too burdensome and should be avoided to minimize suffering and maximize dignity. Death is a foreseen but unintended consequence. Similar to discontinuation of any other device, discontinuing circulatory support allows the primary problem, that of a failed circulation, to recrudesce, and no new pathology is introduced in this action. Hence the discontinuation of circulatory support is upheld by this ethical justification.
However, it is important to understand that there is a range of legal mandates about how medical professionals are allowed to be involved in supporting the dying process for patients with terminal conditions in different countries around the world. The laws range from allowance for withholding but not withdrawing in some jurisdictions, to allowance for providing prescriptions for patient self-administration (physician assisted suicide), to allowance for euthanasia (physician administration of medications) in settings of life-threatening or severely and progressively debilitating diagnoses. This range of legal permissions affects the way that EOL care is carried out in hospital and ICU settings worldwide. The ethical justifications for physician-assisted death (providing prescription for patient self-administration or physician administration of medication to cause death) rest in accepting the actions of allowing to die and inducing death as equally valid to provide an end to suffering or indignities when death is inevitable but the degree or duration of suffering can be mitigated. The action is taken to end suffering and the mechanism of how that action occurs does not hold moral stance. Although several states in the United States have legally mandated physician-assisted suicide and Canada recently legally mandated medical assistance in dying (patient or physician administered medication to hasten death), the majority of jurisdictions currently restrict this permission to the adult with capacity who requests this assistance in the setting of a terminal or irremediable illness or disease. Furthermore, all jurisdictions worldwide that allow physician assistance in dying allow for conscientious objection by the physician to abstain from fulfilling such requests.
Ethical Considerations in Determining Time of Discontinuation of Devices
Understanding that withdrawal of pacemaker, VAD, ECMO, or alternate mechanical circulatory support (MCS) is ethically allowable, it is important to stop these technologic supports in the patient for whom they are unsuccessful or of no benefit. In this sense, understanding the overarching goal of providing the support can help to recognize when it is no longer of benefit. The devices are broadly used to achieve cardiopulmonary stabilization to have time for diagnosis, to determine reversibility, or understand if candidacy for longer-term organ support is possible; to achieve cardiopulmonary support while awaiting organ replacement; or to reduce symptoms of heart failure and improve QOL (destination VAD or pacemaker). Once the general purpose of the device is no longer being achieved, the device should be stopped. This would be when the organ replacement is no longer possible, the disease is not reversible or cannot be intervened upon to allow successful separation of support, or the sequelae of complications or morbidities from the device or underlying disease are mounting and the intended QOL improvement is no longer achieved. In addition, for the adult patient or the child with capacity and legal decisional authority, discontinuation can be requested at any time because the patient does not want technologic dependency, cannot accept the burdens induced by it, or QOL with the device is not acceptable.
Stopping MCS is emotionally burdensome and the team can have difficulty reaching a conclusion that benefit is truly no longer possible. To support the team and family in understanding when to stop, it is helpful to have early involvement of the palliative care team to aid with clarification of goals, family values, and views on QOL. A preparedness plan for device emergencies and changes in patient condition should be in place. Identifying and involving the older child in this plan is also important as decision-making capacity emerges. In addition, they may achieve legal decisional authority while the device is being used.