The Adult with Congenital Heart Disease: Complex Management Guidelines

Updated:Jul 15,2014

The Adult with Congenital Heart Disease: Complex Management Guidelines for Complex Patients

Disclosure: Dr. Sable has no conflicts. Dr. Foster has significant research support from Evalve, Inc. and Boston Scientific.
Pub Date: Friday, November 7, 2008
Author: Elyse Foster, MD and Craig Sable, MD 

Article Text

Congenital heart diseases (CHDs) are the most common form of birth defect, occurring in 1% of live births. Adult survival for the most severe forms has only recently been realized to the extent that the number of adults with CHD now exceeds the number of children in the United States. The lesions that affect the heart as well as the mode of presentations vary widely. Surgical and nonsurgical interventions are numerous, often carrying eponymous names that are difficult to remember. For these reasons, most cardiologists who care primarily for adults are often intimidated when faced with the care of CHD patients. Furthermore, adult cardiologists have become most comfortable practicing medicine with evidence based on large randomized clinical trials, using guidelines that are derived and justified by this strong level of evidence. For the most part, the nature of CHD has precluded patient inclusion into the revered randomized clinical trial. Nevertheless, we have garnered a significant knowledge base from clinical experience and many observational studies, including natural history studies sponsored by the National Institutes of Health.[1-3] The guidelines published in this journal are largely based on these studies as well as the expert consensus opinion of a committee with many cumulative years of experience caring for these individuals.[4] These guidelines are a huge advance in the care of adults with CHD, providing practitioners with logical, well-conceived care plans for these patients. Indeed, the authors have faced the perfect storm of "a complex and unfamiliar disease with an unprepared patient and health care system" and provided us with the means to weather this storm while we equip the next generation of cardiologists to care for these patients.

Unlike other American College of Cardiology/American Heart Association guidelines, these contain a strong emphasis on reforming health systems to optimize the care of the adult CHD (ACHD) population. Following the most recent Bethesda conference on the topic of ACHD, the medical community of pediatric cardiologists, adult cardiologists, surgeons, and advanced health care providers recognized that our patients would be best served by regional ACHD centers where the expertise that broadly addresses the needs of this population is concentrated.[5] Required services must provide expertise in imaging, cardiac catheterization, interventional techniques, surgery, and electrophysiology as well as high-risk obstetrics. The nature of the US health system, unlike those of countries with national health care or "single payer" systems, renders this more a dream than an achievable reality for the present. The recommendation is that primary providers develop a relationship with an ACHD center with the patient making periodic visits, adjusting the frequency according to disease severity. Although this proposed system has not been studied, providers who strive to provide care according to the model described will certainly do their patients a great service. The model, which many of us adhere to in our own practices, has the advantage of providing ongoing education to the primary provider, who monitors medications and is available for immediate problems, while the patient has the benefit of the expertise of the regional center for imaging and interventions.
Other unique aspects of these guidelines are the emphasis on psychosocial issues and on transition from care of the pediatric cardiologist to that of the adult cardiologist.[6] The importance of continuity and not losing patients to follow up is critical in this population. Furthermore, the idea of a patient passport, containing major diagnoses and all procedures, cannot be understated. One of the biggest challenges faced in this population is solving the puzzle of the patient's initial diagnosis and subsequent procedures. It is generally accepted that a process of transition is preferred over transfer because of the psychological attachments to pediatric providers and the need to move away from care that is primarily supervised by the patient's parents to self-directed care. The CHD patient's need for transition is relatively unique among those addressed by the adult cardiologists. Parents may accompany their "children" during the first visits, and the separation may be gradual. Best practices for transition are still evolving but likely include a period when the patient sees both sets of practitioners, which is not often practical outside major university settings.
Adult cardiologists have paid increasing attention to lifestyle issues in their patients. Exercise restrictions in congenital patients are described in the recent Bethesda conference, and in most cases exercise prescriptions should be guided by objective exercise testing.[7] Many ACHD patients were advised to avoid exercise and were excused from physical education classes as children. These practices are now recognized to have been overly restrictive in most cases, but many adults must adjust their preconceptions as they begin to exercise. "Adolescent issues" are much more common, including birth control, tattoos and piercing, illicit drug and alcohol use, and other high-risk behaviors. The guidelines address the impact that these issues may have on patients with CHD.
The impact of pregnancy on the physiology of CHD has strong implications for child-bearing in this population. Patients require careful preconception counseling, testing, and consultation. While ultimately each patient must make their own decision as to whether to proceed with a pregnancy, providers must provide them with the best estimate of maternal and fetal risk to inform their decisions. Once the decision to proceed is made, follow-up in a high-risk obstetrical service with consultation from adult CHD specialists is strongly advised.
Unfortunately, the natural history of CHD has an end stage similar to that of acquired heart disease: dysrhythmias and heart failure. The dysrhythmias have certain unique properties: (1) the onset of dysrhythmias often hails an impending hemodynamic decompensation; (2) the substrate for many of the dysrhythmias is often prior incisions leading to regions of delayed conduction; (3) bradyarrhythmias are commonly due to disruption of the conduction pathways; (4) unique anatomy may necessitate unique solutions, such as epicardial pacemaker placement and trans-baffle ablation in atrial arrhythmias; and (5) treatment of a hemodynamic issue (such as pulmonary valve replacement for a pressure and/or volume loaded right ventricle) may be the first step in treating dysrhythmias. Patients are at risk for sudden death, and the indications for potentially life-saving defibrillators as primary prevention are unknown. Heart failure has widely disparate mechanisms including dysfunction of a systemic right ventricle, failure or degeneration of previous repairs, abnormalities of coronary flow reserve, and sometimes, diastolic ventricular dysfunction. However, the potential contributions of coronary artery disease and other acquired conditions should not be overlooked.
The vast amount of information contained in the new guidelines underscores the complexity and heterogeneity of ACHD patients and the challenges facing the medical community to provide appropriate care for this population as it ages. We are clearly victims of the great success that has been achieved in surgical and catheter-based intervention over the last 30 years, and we must now face the challenge of providing the highest quality of care to this growing population head on. The guidelines take a huge step in helping the medical community transform the way we approach these patients, moving beyond the misconception that they are extremely rare patients with past histories contained in a "black box" that are too difficult to unravel. The appendix of surgical procedures will be extremely helpful to clinicians who do not care for these patients on a daily basis. The tables at the end of the guidelines serve as a very valuable reference for approaching adults with the most common lesions, including septal defects, tetralogy of Fallot, and single ventricles, as well as being a resource for risk stratification of CHD.
The entire cardiology community must meet the challenge to provide consistent and comprehensive care for this population, to become versed in the algorithms for diagnosing and treating the more common diagnoses, to have a plan for transition from parent-centered care of the child to patient-centered care of the adult, and to be aware of the indications and available resources for referral to specialists in ACHD care. Finally, these guidelines must provide a stimulus for new research in order to fill in the gaps in our knowledge of the best practices for care of adults with CHD, such that the next iterations will be based on stronger evidence.


1. O'Fallon WM, Crowson CS, Rings LJ, et al. Second natural history study of congenital heart defects. Materials and methods. Circulation 1993;87:I4-15.
2. Keane JF, Driscoll DJ, Gersony WM, et al. Second natural history study of congenital heart defects. Results of treatment of patients with aortic valvar stenosis. Circulation 1993;87:I16-27.
3. Kidd L, Driscoll DJ, Gersony WM, et al. Second natural history study of congenital heart defects. Results of treatment of patients with ventricular septal defects. Circulation 1993;87:I38-51.
4. Warnes CA, Williams RG, et al. ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association task force for practice guidelines (writing committee to develop guidelines for the management of adults with congenital heart disease). 2008.
5. Webb GD. Care of adults with congenital heart disease--a challenge for the new millennium. Thorac Cardiovasc Surg 2001;49:30-34.
6. Foster E, Graham TP, Jr., Driscoll DJ, et al. Task force 2: special health care needs of adults with congenital heart disease. J Am Coll Cardiol 2001;37:1176-1183.
7. Graham TP, Jr., Driscoll DJ, Gersony WM, et al. Task force 2: congenital heart disease. J Am Coll Cardiol 2005;45:1326-1333.

-- The opinions expressed in this commentary are not necessarily those of the editors or of the American Heart Association

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