Approximately 90% of children born with congenital heart disease (CHD) are expected to reach adulthood.1 With advances in surgical and medical treatment, there are now more adults than children living with CHD,2 with a current estimated 1.3 million adults with CHD in the United States.3–5 This burgeoning population is accompanied by a set of specialized healthcare needs and quality-of-life concerns. Understanding what to expect for patients, parents, and their healthcare providers is essential for the well- being and adjustment of these children as they grow up into young adulthood and beyond.

The purpose of this chapter is to review the quality of life of survivors of CHD, their ongoing medical needs, and the setting and team needed to provide them with optimal care past the pediatric age group.

It is increasingly important to prepare the pediatric patient with CHD and their family for transition into the adult healthcare system. Transition is defined as the “purposeful and planned movement of adolescents and young adults with chronic physical and medical conditions from child-centered to adult-oriented healthcare systems.”6 Young adults are at risk for being lost to care during this time period; it is estimated that between one half and three quarters of adults with CHD do not have regular cardiology follow-up.7,8 For those who are lost to follow-up, there is a 3-fold increase in the need for an urgent intervention such as cardiac catheterization or surgery.8

Although several models have been proposed for transition,9 it is generally agreed that the goal is for the patient to enter the adult care environment and to establish accountability for their own medical care including communication, autonomy, self-care, and self-advocacy (Table 17-1).10–12 The healthcare team, the family, and the patient must work together to achieve successful transition. The process should begin in childhood at an appropriate age for the individual child’s psychosocial maturation and neurodevelopment.13 Providers should begin early, age-appropriate education of the patient to encourage understanding of his or her disease process. As they develop into teenagers, patients should be given more autonomy, and a portion of the office visit should be conducted without the family present.10 This should be framed in such a way that the family sees their role as one of encouragement and empowerment, but does not feel excluded from the patient’s care. It is imperative that the family be prepared early in the transition process to allow increasing autonomy for the pediatric patient who will one day be responsible for his or her own care. The probability of a successful transition increases dramatically when pediatric providers set the stage for the following 2 fundamental transition goals: patient education about their medical condition and parental encouragement to allow their child the independence to take an active role in their own care.14 A summary of the recommendations from the 32nd Bethesda Conference on key elements and strategies for successful transition can be found in Table 17-2.

Once the adolescent or young adult has successfully achieved accountability for his or her own care, then the patient is ready for transfer. Transfer is the period when the adolescent or young adult patient leaves the pediatric environment and enters the adult healthcare system. Most agree that the end of adolescence, around 18 years of age or at the completion of schooling, is the correct time to undergo this process.7 Although an institutional policy should be developed stating when transfer is to take place, timing must be flexible to adjust to the social and mental development of the patient.

Who should the young adult with CHD see when transitioning to adult care? The American College of Cardiology (ACC)/American Heart Association (AHA) 2008 Guidelines for the Management of Adults With Congenital Heart Disease12 have made recommendations for delivery of and access to care depending on the severity of underlying lesion (Table 17-3). Patients with moderate and complex CHD should be followed regularly at a regional adult CHD center. These quaternary referral centers are composed of a multidisciplinary team of healthcare practitioners experienced in the care of the adult with CHD. Patients with simple lesions should have at least 1 visit with a regional adult CHD center to formulate plans for future care and follow-up.

Finally, successful transition cannot be measured in a single appointment completed with an adult provider. Success occurs when the patient and family are able to transition their healthcare from a pediatric to an adult environment without disruption in care. Ultimately, this will enhance patients’ physical and emotional health, resulting in improved quality of life.

As the adult CHD population continues to grow as the result of improvement in pediatric care, there will be an increasing number of adults who are dependent on specialists for their medical and interventional management. Adults with CHD may have symptoms related to residual defects and altered physiology. Complications may include arrhythmia, heart failure, endocarditis, psychosocial issues, and sudden death.15

The Euro Heart Survey on adult CHD assessed clinical and demographic characteristics of an adult CHD population over a 5-year period.16 The information was extracted from charts of over 4000 patients from 1998 through 2003. Both quality of life and morbidity were highly related to the type of CHD. For example, mortality and deterioration of functional class were, not surprisingly, highest for patients with cyanotic or single-ventricle defects, whereas insertion of a permanent pacemaker was most frequent in patients with the diagnoses of transposition, Fontan circulation, and tetralogy of Fallot. Approximately 20% of the patients underwent surgery or a catheter-based intervention during the follow-up period. Arrhythmias were the most common cause for hospitalization in this population, particularly supraventricular tachycardia. Patients visited the outpatient clinic approximately 3 times in 2 years. More than one half of the patients were taking chronic medication, albeit some for prophylaxis. For example, Fontan patients are likely to be on antiarrhythmic medications as well as anticoagulants, whereas diuretics are more commonly used in patients with right-sided heart failure.

Adults with CHD who are referred for intervention, either percutaneous or surgical, fall into the following categories: those without previous reparative surgery or those with complete anatomic or physiologic repair returning for revisions because of residual defects or sequelae from their repairs. More common diagnoses in patients without previous surgery include atrial septal defect, aortic valve disease, coarctation of the aorta, and patent ductus arteriosus. For adults who have undergone surgical palliation during childhood, common conditions requiring reintervention include patch leaks, recurrent valvular or outflow tract stenoses, valve regurgitation, recurrent coarctation, arrhythmias, homograft valve stenosis, regurgitation, or aneurysm formation. Both primary repair and repeat operations are complex anatomically, and often patients suffer from abnormal physiology. Therefore, interventional care requires a multidisciplinary team experienced in both pediatric and adult cardiology and cardiac surgery.

Thorough evaluation of the patient is necessary as anatomic and physiologic complications evolve. Commonly, long-standing cyanosis and pressure or volume overload may result in uni- or biventricular dysfunction. Pulmonary vascular resistance may be affected by long-standing excessive flow and may make repair challenging and even impossible later in life. Therefore, a thorough and comprehensive plan of care must be established for each patient individually before consideration of repair and revision.

Preoperative planning begins with echocardiographic assessment. An additional imaging study such as magnetic resonance imaging or computerized tomography is useful in evaluating the proximity of vascular structures to the posterior sternum as well as providing flow-related and anatomic data. When performing repeat sternotomy, consideration is often given to femoral vessel access for institution of cardiopulmonary bypass. In many patients, however, previous cardiac catheterizations have resulted in femoral venous and/or arterial occlusion. Therefore, all patients need to have preoperative 4-extremity duplex imaging of the femoral, carotid, and jugular systems. Men age 35 years or older, premenopausal women age 35 years or older with risk factors for atherosclerosis, and postmenopausal women may need evaluation by cardiac catheterization and coronary angiography to rule out associated coronary artery disease before they undergo repeat cardiac surgery. Additional testing, such as exercise testing and nuclear perfusion scans for regional ischemia, are used as necessary.

Arrhythmias are common in patients with CHD and contribute to significant morbidity and medical burden. Treatment can involve surgical or catheter-based ablation, implantation of pacemakers, or antitachycardia devices. Most indications for treatment are derived from studies of acquired adult heart disease. However, special considerations must be given to the structurally abnormal heart with distorted anatomic landmarks, abnormal locations of the atrioventricular node, and a high incidence of multiple conduction pathways. In patients who cannot have transvenous pacemakers, such as single-ventricle Fontan patients, epicardial lead placement at the time of surgical reintervention must be considered.

Treatment of specific lesions is summarized in Table 17-4. Additionally, Table 17-5 summarizes the arrhythmias commonly encountered in different CHD conditions.