Acknowledgments
We wish to thank Professor Adrienne H. Kovacs for the thorough and careful review of the manuscript.
A 52-year-old man with severe Ebstein anomaly, atrial septal defect, and chronic cyanosis was followed for almost three decades as an out- and inpatient. He is now admitted with heart failure and shortness of breath with minimal activity. When diagnosed with cardiogenic shock in the emergency room, he is transferred to the intensive care unit to begin inotropic support. Over the next 12 hours, his clinical situation rapidly deteriorates and he eventually suffers cardiac arrest. He is successfully resuscitated and undergoes implantation of an extracorporeal membrane oxygenation system. Subsequently, a workup for urgent heart transplantation is initiated. On day three of the admission, he is diagnosed with a large intracranial bleed that will lead to permanent neurologic damage. Although he was evaluated for transplantation 10 years earlier, there was no documentation about the patient’s attitude toward transplantation. He had never spoken to family members, friends, or medical caregivers about preferences for medical care at the end of life.
This real-life case vignette illustrates the difficulties we may face in the care of our patients at the end of life and illustrates the importance of discussing patient wishes about medical care in critical situations when they are able to speak for themselves. Early communication about end-of-life issues, advance care planning, and the provision of multidisciplinary end-of-life care (including the principles of palliative care) are thus important components of patient care.
Introduction and Scope of the Problem
The outcome of patients affected by congenital heart disease (CHD) has changed dramatically since repair by open-heart surgery became feasible. What were once considered deadly cardiac defects, such as tetralogy of Fallot or transposition of the great arteries, have become well-treatable conditions due to the efforts of pioneering surgeons, dedicated cardiologists, and brave patients and parents. Repair techniques have now been developed for almost all congenital heart defects, including the most complex variations such as hypoplastic left heart syndrome. As part of this success story, childhood survival has improved steadily with each decade; in the current era, more than 90% of children born with CHD are expected to reach adulthood. As a result, there is a steadily growing cohort of adult survivors with CHD. Careful observation of long-term outcomes after childhood repair, however, discourages us from declaring a “cure” or “complete correction” of congenital heart defects by reparative surgery. Although childhood mortality has substantially decreased, it has become evident that morbidity and mortality have shifted to adulthood. In contrast to improved childhood mortality, survival estimates of adult patients have not changed since 1970. In our day-to-day clinical practice, we are thus confronted with an increasing number of young adults facing serious complications from heart disease. Many patients under our care have a markedly shortened life span with a high risk of premature cardiac death as young or middle-aged adults. Given that repair techniques for the most complex congenital defects (eg, Fontan palliation for univentricular hearts) were invented only a few decades ago, the average age of these adult cohorts remains low. Further, with aging of these cohorts into their third, fourth, and fifth decades of life, it is very likely that the number of patients with failure of their palliative operations will rapidly increase.
Although there is certainly legitimate hope that transplantation, or novel therapeutic concepts such as specific ventricular assist devices or better medical and device therapy, will improve patient outcomes, we have to face the reality that many will die at a young age under our care.
The medical care of adults with complex congenital heart defects is often provided within an interdisciplinary cardiology team that includes adult congenital heart disease (ACHD) physicians and nurses. To provide optimal care for our patients, we should adopt the concept of comprehensive care, in which supportive care and palliative care are integrated as important aspects of the overall medical care strategy.
Concept of Comprehensive Care
Disease trajectories, even within the same type of congenital heart defect, show large variability among individual patients. In most patients, however, the overall disease course follows several distinct phases and stages, beginning with the prenatal period and ending with death. These distinct phases and stages of disease are comparable to other types of chronic disease, such as heart failure from acquired heart disease. We may thus be able to adopt some of the concepts of comprehensive care developed for heart failure and other chronic illnesses, but should remain mindful of important differences between acquired diseases and CHD.
A schematic diagram of the different disease stages during the life span of a patient with CHD is depicted in Fig. 26.1 , which follows the concepts of Sarah Goodlin, a pioneer in palliative care for patients with heart failure. Apart from the obvious needs for appropriate medical and surgical care within each of these disease stages, all patients have specific needs and challenges for supportive and palliative care that our teams should provide.
Specific Considerations in Adults with Congenital Heart Disease
Several aspects unique to adults with CHD (vs. adults with acquired heart disease) should be considered and mandate the development of ACHD-specific pathways in comprehensive care 7 :
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Adults with CHD typically die from their heart disease at a younger age than adults with acquired heart disease. This can be particularly difficult and distressing for patients, families, and health care providers. This also appears to lead to an elevated risk of receiving overly aggressive or futile treatment before death ensues.
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The focus of care for patients with CHD has traditionally been advances in life-prolonging measures and interventions. The transition of care toward principles of palliative care, rather than life-prolonging care, represents a major shift and may cause cardiologists to avoid “do not resuscitate” discussions or other anticipatory planning despite the futility of aggressive treatment.
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In contrast to heart failure from acquired heart disease, in which risk models have been developed to predict timing of death, such reliable tools and scores do not exist for adults with CHD and prognostication remains difficult.
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Following reparative surgery in early life, the disease course of patients (even those with complex congenital heart defects) is usually stable and most patients remain asymptomatic during childhood and adolescence. Potential long-term complications and the life-shortening nature of the underlying heart condition are often not discussed during pediatric visits and may thus foster the erroneous concept of cure or total correction. Adolescents and young adults often present with limited knowledge about their heart defect and its potential impact on their prognosis and longevity. However, with adult life decisions, such as careers, insurance, and family planning, understanding of longer-term health expectations becomes increasingly important and highlights the need for intensified supportive care.
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The socio-professional situation of CHD patients is often very different from that of older adults and elderly patients followed in heart failure clinics. For younger and middle-aged adults with CHD, a decline in functional status may interrupt careers long before retirement age and may occur within complex family systems. Financial difficulties and lack of appropriate insurance in many countries may add to the distress of dying.
What is Known About Communication and Provision of End-of-Life Care in Adults with Congenital Heart Disease?
End-of-Life Care in Adults with Congenital Heart Disease
There is sparse literature on end-of-life-care in adults with CHD. One study analyzed the provision of end-of-life care in 48 adults who died between 2000 and 2009 as inpatients in a large ACHD tertiary care center. Patients who died from noncardiac disease or in the perioperative period after cardiac surgery were excluded. Patients included in this study had advanced disease; more than half had a previous admission for heart failure, 60% were in New York Heart Association (NYHA) functional class III or IV, 90% previously had a major adverse cardiac event, and 42% had undergone assessment for heart transplantation prior to admission. Despite clear evidence of advanced disease, only five patients (10%) had documented end-of-life discussions prior to their demise. Almost all patients had aggressive treatment at the time of death; 67% died in an intensive care unit and 52% died under attempted resuscitation. Referral to services that offer specialized end-of-life care, such as palliative care teams, were documented in only 21% of patients.
Knowledge and Communication about the Underlying Heart Defect and Life Expectancy
Although outcome studies for many congenital heart defects are limited because repair operations were only recently invented, and thus the average life expectancy is currently undetermined, it is well documented that many patients have an increased risk of premature death as young and middle-aged adults. The risk of premature death is determined not only by the type of the congenital heart defect, but also by other factors including the type of repair, the timing of repair, concomitant congenital defects, and comorbidities. At times, even patients with simple defects not generally associated with shortened life expectancy (eg, atrial septal defects) may have a poor prognosis if complications (eg, pulmonary hypertension) occur. Although the exact longer-term prognosis for an individual patient may be difficult to determine, overall, CHD of moderate or great complexity should be regarded as a life-shortening medical condition. Although these facts may be evident for us as experienced medical caregivers who have witnessed multiple deaths of younger adults with CHD, many of our patients hold unrealistic concepts about their heart condition and life expectancy, partly due to previous overly optimistic descriptions of a cure or complete correction of congenital heart defects. The majority of adolescents and young adults in one study estimated their life expectancy as close to the life expectancy of their healthy peers; most importantly, 85% estimated their life expectancy to be significantly longer than estimated by the study authors.
Despite the aforementioned study suggesting that adults with CHD often overestimate their life expectancy, there is evidence to suggest that patients are more willing to discuss end-of-life matters early in the disease course than health care providers. A survey of adult outpatients with CHD revealed that more than three-quarters of patients (irrespective of underlying disease complexity) felt ready to discuss end-of-life issues, whereas health care providers thought that patients with an estimated life expectancy of more than 5 to 10 years were not ready to talk about end-of-life issues. In this same study, the majority of patients stated that they preferred such discussion early during stable phases of their disease, whereas health care providers typically restricted such discussions to patients with life-threatening cardiovascular complications or foreseeable upcoming death. These uncertainties in patients’ preferences mean that discussions about prognosis and exploring patient concepts of end-of-life care are typically avoided during the stable phase of disease in adulthood. Although the majority of patients seem to be interested in discussions about the nature and outcome of their disease, health care providers must also meet the needs of the one-quarter of patients who are not interested in these conversations. Thus, the wishes and needs of patients must be explored and addressed in a sensitive fashion.
Discussions about long-term life expectations should not be limited to patients with more severe forms of CHD. In clinical practice, we occasionally encounter patients with minor defects for whom we do not expect any life-shortening effect of the heart condition, but who perceive their life expectancy as severely limited. A discussion about the nature and the optimistic expected disease trajectory of their defects may provide significant relief for these patients.
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