Adult congenital heart disease: New challenges

Abstract

Improved surgical care from the last five decades, together with the advances in medical management, led to a remarkable increase of survival of patients with congenital heart disease (CHD). However, aging of the CHD population brings new challenges. Given that many patients with CHD are prone to residua and sequelae, life-long surveillance is essential. Therefore, the first of many challenges is to optimize the transition of patients with CHD from pediatric to adult cardiology to prevent lost to follow-up, and to ensure that there are enough specialized adult cardiologists to take care of this expanding patient population. Another important challenge is the expansion of knowledge on long-term complications and comorbidity in these patients. Increased efforts are needed to gain further understanding on how to prevent and treat these. Furthermore, as patients reach the reproductive age, family planning becomes more important and research on the risks and management of pregnancy should be further extended. Finally, to improve the well-being and social life of adults with CHD efforts should be made to improve employability and insurability.

Introduction

Among all congenital anomalies, the most common is the congenital heart defect with an estimated incidence of 1/1000 live births [1]. Within congenital heart disease (CHD) there is a great diversity of types of defects varying from mild defects which require only little or no treatment, to severe defects which require surgical intervention(s) in early life. Historically, no more than 30–40% of infants born with CHD survived until their tenth birthday. However, improved surgical care from the last five decades, together with the advances in medical management led to a remarkable decline in the mortality rates in children with CHD and to a new patient population: adults with CHD. Currently, the adult CHD population exceeds the pediatric CHD population [2] and is estimated to be more than 1 million in the United States and 1.2 million in Europe. However, although much has been achieved, we are not there yet. Aging of the CHD population brings new challenges.

Given that currently over 90% of children with CHD survive to adulthood, a large number of patients need to make the transition from pediatric cardiology to adult cardiology. This transition is important, since many patients are prone to residua and sequelae, and lapse of care is associated with significant morbidity. Therefore, life-long surveillance is indicated. Unfortunately, not all patients go through this transition. Up to 70% are either lost to follow-up or experience lapses in care after leaving pediatric cardiology [3], [4]. Thus, the transition should be optimized to prevent lost to follow-up in the future, e.g. by the implementation of transition programs. What kind of program is most effective has yet to be investigated, but structured patient education explaining the importance of follow-up for adolescents (and their parents) is an important feature [5]. Furthermore, also after the transition period patients get ‘lost’. Factors associated with lost to follow-up or barriers to use health care should be identified, to help design interventions for prevention. Finally, patients that are currently lost to follow-up should be actively traced, as is recently done in the Netherlands and Denmark, to make sure they receive the recommended life-long surveillance [6], [7].

To provide optimal care for this growing population, more cardiologists should be trained to care for the adult CHD population. Educational programs should be developed to use worldwide and train cardiologists uniformly. The internet could play a prominent role in this. Additionally, studies on current health care use (inpatient and outpatient) [8], [9] and on patient characteristics associated with health care use are important to predict future health care utilization and to provide insights in how to properly allocate care [10]. These studies might also provide insights in how to organize the recommended multidisciplinary care around these patients.

As (early) surgical treatment is seldom curative, research increasingly focuses on long-term complications including arrhythmia, heart failure, endocarditis, pulmonary hypertension, and the need for (re)interventions [11], [12]. However, more and better research is warranted to gain further knowledge on how to prevent and treat these complications.

It is known that arrhythmias occur frequently in this patient population, the kind of arrhythmia and frequency depending on the underlying defect and the age of the patient. Sudden death due to arrhythmia is a major cause of death [13], [14], and there is great need for (improved) risk stratification to identify high-risk patients who might benefit from preventive measures such as implantable cardioverter defibrillator (ICD) implantation [15]. In addition, randomized controlled trials are necessary to show if and for whom ICD implantation will be beneficial, taking the side effects (e.g. inappropriate shocks) into account [16].

Heart failure is another serious complication which deserves more attention. In the past, clinical trials have mostly targeted patients with heart failure secondary to acquired heart disease. Thus up to date, it is still unclear if the traditional heart failure drug therapies have the same beneficial effects in patients with heart failure secondary to CHD. Moreover, cardiac resynchronization therapy might be a promising treatment strategy for patients with CHD and heart failure. However, only a few small short-term studies have been conducted so far [17], and no consensus has been reached yet. Large randomized studies with long-term follow-up are needed to determine which drug therapies will be best in CHD patients with heart failure [18], [19], and if cardiac resynchronization therapy should be recommended in clinical guidelines. Preferably, these are international multicenter studies to include enough patients to reach sufficient statistical power.

With the aging of this population not only CHD-related complications occur, but non-CHD diseases such as cancer, diabetes, and coronary artery disease are on the rise too [20]. If adults with CHD are more (or less) susceptible for certain comorbidities compared to the general population is unknown. Furthermore, do these comorbidities require special or other treatment strategies in CHD patients than in non-CHD patients? Will treatment of comorbidity predispose CHD-related complications such as pulmonary hypertension or arrhythmia? To answer these questions, more studies (especially trials) should focus on non-CHD outcomes and treatment in adult CHD patients in the future. Moreover, many patients with CHD require non-cardiac surgery during their lifetime. Risk stratification might help prevent adverse outcomes by tailoring the perioperative management to the different risk groups.

Alongside direct disease-related limitations there are also social consequences that might burden patients with CHD (Zomer et al., in press Am J Cardiol 2012) and affect quality of life. Although there are conflicting data, educational attainment and employment rates are reported to be lower in patients with CHD compared to their healthy counterparts. For those who desire and might benefit from it, special programs to increase employability could be implemented. For example, coaching programs where positive yet medically appropriate advice concerning potential careers is given might help these patients find suitable jobs [21].

Patients with CHD often experience difficulties obtaining insurances, especially life insurance, which is important for future financial security and obtaining mortgages. Patients are declined or are only insured at (exceptionally) high rating. Furthermore, there seems to be a lot of inconsistency in the policies of insurance companies: patients with the same type of defect are declined at one company and accepted at another. In addition, the rating for patients with the same type of defect differs per company. It is important to keep the medical advisors of the insurance companies up to date about the current management and life expectancy of patients with CHD, so that 1) the decision making is based on the latest knowledge, and 2) to ensure that uniform decisions are made among insurance companies.

Now that patients with CHD reach the reproductive age, family planning is an important issue. Pregnant women with CHD have an increased risk of complications, varying from a low to a substantially high risk [22]. In recent years, risk stratification has been an important focus of research. With the aid of prediction models high-risk women can now be better identified. However, it seems that within the high-risk category there is still variation in risk, and further risk stratification in that high-risk group should be the next step. This will lead to more tailored peri-pregnancy management and possibly to less adverse outcomes. Large multicenter studies are mandatory in this.