Congenital heart disease in the older adult: a scientific statement from the American Heart Association.

Abstract

HomeCirculationVol. 131, No. 21Congenital Heart Disease in the Older Adult Free AccessResearch ArticlePDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessResearch ArticlePDF/EPUBCongenital Heart Disease in the Older AdultA Scientific Statement From the American Heart Association Ami B. Bhatt, MD, Elyse Foster, MD, FAHA, Karen Kuehl, MD, MPH, Joseph Alpert, MD, Stephen Brabeck, MD, Stephen Crumb, DNP, William R. DavidsonJr, MD, Michael G. Earing, MD, Brian B. Ghoshhajra, MD, Tara Karamlou, MD, Seema Mital, MD, FAHA, Jennifer Ting, MD and Zian H. Tseng, MD, MASon behalf of the American Heart Association Council on Clinical Cardiology Ami B. BhattAmi B. Bhatt Search for more papers by this author , Elyse FosterElyse Foster Search for more papers by this author , Karen KuehlKaren Kuehl Search for more papers by this author , Joseph AlpertJoseph Alpert Search for more papers by this author , Stephen BrabeckStephen Brabeck Search for more papers by this author , Stephen CrumbStephen Crumb Search for more papers by this author , William R. DavidsonJrWilliam R. DavidsonJr Search for more papers by this author , Michael G. EaringMichael G. Earing Search for more papers by this author , Brian B. GhoshhajraBrian B. Ghoshhajra Search for more papers by this author , Tara KaramlouTara Karamlou Search for more papers by this author , Seema MitalSeema Mital Search for more papers by this author , Jennifer TingJennifer Ting Search for more papers by this author and Zian H. TsengZian H. Tseng Search for more papers by this author and on behalf of the American Heart Association Council on Clinical Cardiology Originally published20 Apr 2015https://doi.org/10.1161/CIR.0000000000000204Circulation. 2015;131:1884–1931is corrected byCorrectionOther version(s) of this articleYou are viewing the most recent version of this article. Previous versions: January 1, 2015: Previous Version 1 IntroductionThe population of adults with congenital heart disease (ACHD) has increased dramatically over the past few decades, with many people who are now middle-aged and some in the geriatric age range. This improved longevity is leading to increased use of the medical system for both routine and episodic care, and caregivers need to be prepared to diagnose, follow up, and treat the older adult with congenital heart disease (CHD). The predictable natural progression of CHD entities and sequelae of previous interventions must now be treated in the setting of late complications, acquired cardiac disease, multiorgan effects of lifelong processes, and the unrelenting process of aging. Despite the advances in this field, death rates in the population from 20 to >70 years of age may be twice to 7 times higher for the ACHD population than for their peers.1This American Heart Association (AHA) scientific statement will focus on the older adult (>40 years old) with CHD. It is meant to be complementary to the 2008 American College of Cardiology (ACC)/AHA guidelines for ACHD and orient the reader to the natural history, ramifications of childhood repair, and late initial diagnosis of CHD in the older adult. This population with CHD is unique and distinct from both the pediatric and young adult populations with CHD. Much of the information we provide is from scientific research combined with clinical experience from longitudinal care. We emphasize that this is the beginning of a discussion regarding this rapidly growing population, and continued research aimed at the progression of disease and complications reviewed here is necessary to advance the field of ACHD with the scientific rigor it deserves.ACHD encompass a broad range of presentations. There are people who are diagnosed for the first time in adulthood, as well as those with prior palliative repair and its consequences, new sequelae years to decades after childhood surgical repair, or residual lesions with delayed presentation.It can become more complicated to care for middle-aged and older patients with residual hemodynamic abnormalities despite the success of their earlier operative intervention when acquired heart disease intervenes. The addition of acquired heart disease may lead to symptoms such as exercise intolerance with significant disability in a previously asymptomatic patient. The challenge that often faces the cardiologist is to sort out the relative contribution to symptoms of acquired heart disease and CHD.In addition to the large number of patients with previously diagnosed CHD, there exists a population of adults whose CHD was not diagnosed during childhood. These adults may be symptomatic, leading to detection of the lesion. However, some lesions may escape detection until adulthood and become apparent because of superimposed acquired heart disease or as an incidental finding. Operative or catheter interventional therapy for these patients may be more complex than if the problem had been addressed in childhood and may have to be combined with additional procedures, for example, coronary artery bypass or coronary angioplasty, if advanced ischemic heart disease is present. On the other hand, newer percutaneous interventions may obviate surgery in cases in which it would have been required in the past.This AHA scientific statement will address diagnosis and management of CHD in adults >40 years of age to summarize what is presently known and to outline areas in which additional knowledge is critical to their care. The focus of this scientific statement will be structural CHD, including coronary artery anomalies and aortopathy associated with bicuspid aortic valve (BAV) disease. We will exclude familial cardiomyopathies, degenerative mitral valve disease, genetically based arrhythmias, connective tissue disease, and familial aortic aneurysm. Issues related to contraception and pregnancy will not be addressed in this document, although we recognize that some women >40 years of age may still have child-bearing potential.The writing group was charged with the task of performing an evidence-based assessment of the data and providing a class of recommendation and a level of evidence to each recommendation according to the ACC/AHA classification system (Table 1).Table 1. Applying Classification of Recommendations and Levels of Evidence.Table 1. Applying Classification of Recommendations and Levels of Evidence.Prevalence of CHD in AdultsThere is no database of adults with CHD in the United States that provides systematically collected population prevalence data. The Centers for Disease Control and Prevention recently funded 3 pilot projects for surveillance of congenital heart defects to begin to address this elusive question. In the province of Quebec, Canada, there was a prevalence of 4.09 cases of CHD per 1000 adults in 2000, with 9% of these people having diagnoses of severe CHD.2 Extrapolated to the United States, there would have been ≈850 000 adults with CHD in the year 2000. It has been estimated that the ACHD population increases at 5% annually3–6; thus, there would have been an additional 400 000 increase in this population from 2000 to 2012. These estimates in Canada include patients not receiving specific cardiac care.2 The 32nd Bethesda Conference on “Care of the Adult With Congenital Heart Disease” in 2000 yielded similar population estimates, categorized according to severity of lesion as follows: 45% of adults had mild, 37% had moderate, and 14% had severe heart disease.7The birth prevalence of specific congenital heart defects varies by ethnicity.8 Mortality also varies by ethnic group, which raises the possibility of disparities in access to health care and education and in knowledge of care needs within the ACHD population.9 Importantly, variations in ethnic makeup may limit comparability of data from other countries to the United States.Survival Into and in Adulthood of Patients With Known CHDAlthough cardiac surgery for congenital heart defects began in the mid-1950s, surgery was initially often performed on older children and adults, often in multiple staged procedures. Complex cardiac defects were not approached with definitive infant surgeries until the mid and late 1970s, when infant cardiopulmonary bypass (CPB) was in common use. The contemporary adult population of people with CHD is therefore made up of myriad populations with unique natural histories: those who survived without surgery; those who had repairs with multiple procedures, with first surgeries after infancy; and those who had surgery in infancy. The last group includes an evolving set of diagnoses among patients who have not usually survived to adulthood, including hypoplastic left heart syndrome and dextro-transposition of the great arteries (D-TGA) with an arterial switch. An understanding of the expected course of this latter group after 40 years of age awaits the survival of larger numbers of such patients to that age.When population-based data were used, the life span in patients with ACHD was shown to be similar to that of the general population of Quebec when assessed in 2004.2 However, the CONCOR (Congenitale Cor Vitia [Congenital Heart Ailments]) database demonstrated that patients who sought care for ACHD were at risk of death compared with their peers; more patients of younger ages were represented in the CONCOR data. It is likely that as the ACHD population ages and has more severe comorbid disease, the excess death risk for patients with moderate or severe disease will be manifest in many countries.10,11Survival to adulthood varies with severity of CHD, with 98% of patients with mild CHD, 96% of those with moderate CHD, but only 56% of those with severe forms surviving to adult ages. Survival of the population as a whole to adulthood was 81% in 1970 to 1974, increasing to 88.6% in 1990 to 1992. As far back as 1970, 36.4% of patients had undergone some surgical intervention, a proportion that was little changed through 1992, although the nature and timing of surgical interventions changed during that period. Survival to age 40 years was 84.1% for all CHD types combined.11 For patients with CHD, the death registries of the United States from 1999 to 2006 showed a sharp rise in mortality rates after 65 years of age.9Evaluation and Management of the Patient With Known CHDLate Morbidities in ACHD That Are Not Diagnosis SpecificNearly 80% of deaths in ACHD patients are associated with heart failure, sudden death, arrhythmias, and vascular complications.1 Hospital admissions occurred in 50% of ACHD patients over 5 years of follow-up in the CONCOR database12; 61% of admissions were for cardiovascular causes. In the United States, 20% of hospital admissions of people with ACHD are for heart failure, and the prognosis is worse for these patients than for those with ACHD admitted for other reasons.13 Heart failure occurs both with diminished and with preserved systolic function; on occasion, there is no clear pathogenetic hemodynamic load. Diastolic dysfunction is present without the usual comorbidities of obesity or hypertension in many of these patients.Intra-atrial reentrant tachycardia (IART) is increasingly common in the ACHD population across diagnostic categories, with the estimate that 50% of all patients will manifest some atrial arrhythmia by 55 years of age. This reentry circuit often involves a prior atriotomy scar and may require specialized mapping for ablation.14Vascular complications include the development of pulmonary hypertension, aortic root dilation, aneurysm formation, and venous insufficiency.Importantly, with age, and in this older ACHD population, management will need to encompass acquired heart disease. In the general population, mortality rates for all cardiovascular disease, coronary heart disease, and stroke are, respectively, 10, 9, and 13 times higher in people ≥65 years old than in those 45 to 64 years of age. As people with ACHD approach these decades, the problems of acquired heart disease in this population will become manifest over time. This is already evident, because in the adult population with acyanotic CHD, since 1990, myocardial infarction has become the leading cardiovascular cause of death, consistent with improved longevity and the increasing impact of acquired heart disease.15ACHD patients with heart failure, arrhythmia, acquired heart disease, and other acute morbidities are likely to present locally to hospitals that may not have established ACHD programs. Coordination of care between such facilities and ACHD regional programs is important.Evaluation of the Older Adult With CHDEvaluation of adults presenting with or known to have CHD should, within the initial evaluation, include the participation of a specialized center for the care of ACHD. It is recommended in the ACC/AHA guidelines for care of this population that each cardiovascular specialist, emergency department, and pediatric cardiology program have a relationship with a regional specialized program for the care of ACHD. In most ACHD patients, the history, progression of symptoms, and assessment of the relationship of symptoms to the congenital lesion form the clinical foundation of the patient’s care. Physical examination provides the most useful information, and chest radiography, ECG, and the use of simple laboratory tests (creatinine, sodium, liver function tests, brain natriuretic peptide, hematocrit, uric acid) can help assess the longevity and systemic effects of the disease. It is essential that patients’ records, in particular previous cardiac catheterization reports and operative notes, be obtained from primary sources. Not only does this allow initial comprehensive evaluation of these patients, but it provides a medical center where, if needed, other illnesses can be managed in a setting that is also knowledgeable about CHD.Evaluation should include expertise in appropriate imaging to allow planning for the care of that patient and determination of severity of illness. Imaging of CHD patients requires a specialized set of skills within echocardiography, magnetic resonance imaging (MRI), and cardiac catheterization. Echocardiography laboratories certified in CHD in the pediatric population may be not always be appropriate for the adult population if additional skills are not available to evaluate superimposed acquired heart disease. After an initial evaluation, patients can be considered as having mild, moderate, or severe disease.In centers dedicated to ACHD care, cardiopulmonary exercise testing can be used for quantitative assessment of cardiopulmonary efficiency in both the presence and absence of symptoms. Routine exercise testing will assess for arrhythmias and ischemia as well, and stress echocardiography may be of use to assess worsening valvular disease or pulmonary hypertension, especially if exertional symptoms are out of proportion to resting imaging results. Obstructive sleep apnea may coexist in select diagnoses within this population and may be worth evaluating. For the ACHD patient, multidisciplinary ACHD team review is essential in patient care and prudent before recommendations are made.After a definitive diagnosis and treatment plan are evolved at a specialized center, collaborative relationships with community cardiologists are essential to the ongoing care of patients with mild disease and some with moderate disease. The model of 2-way conversation about patient management over the years is not well established in US medical practice; such collaborative patient-centered care would be of benefit to this ACHD population.CHD Diagnosed and Treated in ChildhoodSimple ShuntsPatients with repaired atrial septal defects (ASDs) or ventricular septal defects (VSDs), or with closed ductus arteriosus, can anticipate excellent quality of life in general, with a near-normal lifespan.16 Late structural complications in simple shunt lesions may include aortic cusp prolapse after VSD repair (or in unrepaired restrictive VSD) with aortic insufficiency and, rarely, development of a subaortic membrane or right ventricular (RV) muscle bundle hypertrophy and a double-chambered RV.Electrophysiological concerns late in life can include IART after ASD closure or patch repair for partial anomalous pulmonary venous return and sinus venosus atrial defect. Sick sinus syndrome or low atrial rhythms can also be seen late after sinus venosus and anomalous pulmonary venous return repair. Atriotomy incisions, performed in myriad CHD surgeries, can lead to atrial flutter, whereas other times, surgery may disrupt the sinus node arterial branch.Some patients with shunt lesions may be at risk of pulmonary arterial hypertension (PAH) later in life, and of note, in patients with large shunts who may have had pulmonary artery (PA) banding to limit pulmonary blood flow in childhood, some may present later in life with supravalvular pulmonic stenosis.Atrioventricular Septal DefectIn patients with an atrioventricular septal defect (AVSD), there is often late left-sided atrioventricular (AV) valve regurgitation that necessitates reintervention. Overall freedom from reintervention at 10 years may be as low as 67.2% or as high as 86%17 or 89%.18 Independent risk factors for need for reoperation may include associated cardiovascular anomalies (P<0.001), left AV valve dysplasia (P<0.001), and nonclosure of the cleft (P=0.027) or primary cleft closure rather than patch augmentation. Survival is higher after left AV valve repair than after replacement (P=0.010), and cardiomyopathy may be more likely after replacement; however, both repair and replacement are associated with a high incidence of reoperation. Fortunately, overall survival of patients who undergo reoperation for left AV valve regurgitation is favorable (88.1% at 10 years in a recent study).17,19Tetralogy of FallotAn as yet unknown proportion of patients with repaired tetralogy of Fallot (TOF) develop pulmonary insufficiency, which can progress to enlargement of the right side of the heart and heart failure that requires pulmonary valve replacement (PVR). Criteria for optimal timing of valve replacement are evolving, with the goal of maintaining RV size and function after valve replacement.20RV to Pulmonary Artery ConduitsThe use of conduits between the RV and PA is an intrinsic part of many CHD repairs, including pulmonary atresia with VSD, Rastelli repair of D-TGA with VSD, and truncus arteriosus. In all cases in which a valve is present in the conduit, that valve may develop stenosis or insufficiency over time. RV to PA conduits are notorious for requiring reintervention, often for combined stenosis and insufficiency.21 PVR may be accomplished with the use of percutaneously implanted valves. Bioprosthetic valves are usually chosen for placement in the RV outflow tract (RVOT) and have a finite, unpredictable life span such that multiple replacements are anticipated. Recurrent pulmonary stenosis, either at the annulus or in the branch PAs, occurs in these patients and is often approachable and addressed by interventional means. RV and left ventricular (LV) failure, ventricular tachycardia (VT), and atrial tachycardia occur in this population as well.14Obstruction of the Left Side of the HeartCongenital aortic stenosis (AS) and coarctation of the aorta and BAV all occur in congenital forms and often in combination. BAV carries with it the risk of aortic root dilation and aortic dissection in an unknown proportion of cases.22 BAVs may develop progressive stenosis or insufficiency that requires repair or replacement.Recurrent or residual coarctation of the aorta with hypertension may be responsive to further dilation and stent placement in the narrowed site. A high percentage of patients with coarctation repair develop aortic valve disease as well.23The role of adult weight gain and obesity as they relate to functional obstruction of the original coarctation is not clear. Patients with coarctation have often been thought to have increased risk of coronary artery disease (CAD); however, this appears to reflect the presence of known risk factors in the coarctation population (eg, male sex, hypertension, and hyperlipidemia).24LV outflow tract obstruction may develop late after initial AVSD repair. Lesions that lead to obstruction may include subaortic membrane, fibromuscular obstruction, tunnel obstruction, hypertrophic cardiomyopathy/muscular obstruction, or anomalies of the mitral subvalvar apparatus, including attachments from the mitral valve to the septum, which are important to recognize in surgical decision making. There are multiple potential operative strategies, most of a complex nature, that should be performed by a surgeon with experience treating the adult with CHD in an ACHD center, in whose hands there are favorable early and midterm outcomes.25Most patients with isolated thin, discrete subaortic stenosis treated with transluminal balloon tearing of the membrane in childhood had sustained relief at subsequent follow-ups without restenosis, the need for surgery, progression to muscular obstructive disease, or an increase in the degree of aortic regurgitation.26 However, in the older adult with CHD with a history of repair of subaortic stenosis in childhood as described above, moderate to severe aortic regurgitation (16%) or progressive valvular AS requiring surgery (26%) may develop. In 1 long-term follow-up study of older adults with a history of subaortic stenosis after childhood surgery, valve surgery for AS was more common in patients with concomitant BAV disease (P=0.008), coarctation of the aorta (P=0.03), and supravalvular stenosis (P=0.02). Careful clinical follow-up of the discrete subaortic stenosis population to monitor aortic valve status continues to be warranted even after a successful surgical resection.27In people with Williams syndrome, there may be late presentation of supravalvar AS in those who were not diagnosed at an earlier age.Transposition of the Great Arteries (D-TGA and L-TGA)Transposition of the great arteries in the older adult will generally represent either D-TGA after atrial switch (Mustard or Senning) repair or levo-transposition (L-TGA), also known as congenitally corrected transposition (CCTGA), both of which have a morphological RV as the systemic, subaortic ventricle. In 1 multicenter study, among patients who had undergone L-TGA, heart failure developed by age 45 years in 67% of those with associated lesions (eg, VSD, tricuspid insufficiency, or pulmonary stenosis) and in 25% of those with no associated lesions.28After atrial switch for D-TGA, the 20-year survival rate is ≈80% to 85%, with nearly equal survival after the Senning and Mustard procedures. Because these studies were first performed in the early 1960s, there are an increasing number of patients who have survived to age 40 and beyond.29–32 Sudden death has been the most common cause of death in the D-TGA patients.33 In the systemic RV associated with atrial baffle repair (Mustard or Senning operation) of dextro-transposition of the great vessels, RV failure is uncommon,33 although many RVs are enlarged. Complications in the older adult may include obstruction of systemic or pulmonary venous pathways created by baffling of the atria, sinus node dysfunction or marked bradycardia (potentially requiring pacemaker placement), and atrial reentrant tachyarrhythmias (which may benefit from radiofrequency ablation by an experienced electrophysiologist with knowledge of their complex anatomy). The change to the arterial switch operation in the 1980s will mean that there will be fewer of these patients in coming years.Longstanding subpulmonic stenosis in L-TGA (or D-TGA after atrial switch) may be observed and in fact may play a protective physiological role in maintaining subpulmonary LV pressures and preventing systemic RV annular dilation and progressive systemic tricuspid valve regurgitation.Single-Ventricle PhysiologyThis includes a diverse group of anatomic diagnoses such as tricuspid atresia, double-inlet LV, malaligned AV canal, and hypoplastic left heart syndrome. The morbidity of these diagnoses are expected to vary with the type of single ventricle, for example, anatomic LV or anatomic RV.Very few patients with Fontan palliation of single ventricle have reached 40 years of age; those who have most likely had late Fontan operations, that is, were natural survivors of their single-ventricle status. In younger patients, cirrhosis is markedly more frequent in single-ventricle patients hospitalized for any cause than in others, with a rapidly increasing number of admissions and diagnoses of ascites and portal hypertension.34 In the older Fontan patient, risk factors for cirrhosis are being investigated, but prospective assessment of liver disease will be necessary to better understand the progression and potential avoidance of or treatment for liver complications. Atrial reentrant tachycardias are very common in this population and may benefit, temporarily or potentially long-term, from radiofrequency ablation.CHD Diagnosed in Childhood but Not TreatedThe proportion of patients with known but unrepaired CHD not undergoing surgery appeared stable from 1970 to 1992 at >60%, during which time patients with more complex disease underwent surgery, but their survival to adulthood remained significantly below that of others.11 In a multicenter European study of 5 years of follow-up of 4110 patients surveyed from 79 centers in 29 countries, 57% of ASD and 56% of VSD patients had not undergone closure of the defects. Approximately 10% of patients with coarctation of the aorta had not had previous repair. Of the 4110 patients, 390 had Eisenmenger syndrome and therefore may not have had surgery.35It is estimated that at least half of all children born with CHD may not need surgical intervention in their lifespan.11 These data must be reconciled with the known occurrence of atrial tachycardia, endocarditis, heart failure, and other associated problems of ACHD patients that are not limited to the operated patients.CHD Diagnosed in AdulthoodAtrial Septal DefectASD is one of the most commonly diagnosed CHDs among adults. The anatomy of the septal defect that presents in adulthood will most often be a classic ostium secundum defect or a patent foramen ovale, or it can be a sinus venosus defect, which often coexists with partial anomalous pulmonary venous return. The secundum ASD will often have a right axis and right bundle-branch block on the ECG, as well as a pulmonic flow murmur and widely split S2 on physical examination. The physiology that leads to symptoms in adulthood may be multifactorial. Adult comorbidities such as ischemic heart disease, hypertension, or development of diabetes mellitus can all result in a reduction in LV compliance and an increase of LV diastolic and left atrial pressure compared with right atrial pressure, leading to increased left-to-right shunting with pulmonary overcirculation. In extreme cases, this may accelerate RV failure. Superimposed pulmonary disease, including interstitial disease or obstructive sleep apnea, may adversely affect the RV as well.The mechanism of adult presentation is relevant to all atrial level shunts. Sinus venosus defect, with or without partial anomalous pulmonary venous return, may present additionally with sinus node dysfunction, a low atrial rhythm, or atrial arrhythmias (also seen in secundum ASD). Any adult presenting with atrial arrhythmia and a dilated RV should be investigated for an atrial level shunt lesion.With age, pulmonary arteriolar remodeling will lead to increased pulmonary vascular resistance; however, the late presentation of Eisenmenger syndrome, with right-to-left shunting leading to cyanosis, is rare. It is more common with associated genetic syndromes or in people in rural or underserved areas without adequate access to health care who may be living with a large unrepaired shunt (often AVSD, VSD, or patent ductus arteriosus).Although ASD closure is known to improve morbidity and mortality in children and young adults, data on older adults are more recent and sometimes controversial. However, recent research suggests that in patients >60 years of age, ASD repair has few if any procedure-related deaths and low major complication rates (lower with percutaneous than surgical closure in some series) and results in improved quality of life and New York Heart Association (NYHA) class, as well as decreased RV size with increased biventricular function. These benefits are demonstrated with percutaneous and surgical closure. The prevalence of atrial arrhythmia in this age group may remain stable, perhaps secondary to the additional causes for atrial arrhythmia by this decade of life.36 In general, with repair at any age >25 years, the risk of atrial arrhythmias is not abolished, although it may be attenuated.37 Mitral valve competence also may deteriorate after ASD repair in older patients with a large ASD and should be monitored.38Bicuspid Aortic ValveBAV has a bimodal distribution of progression of AS. These patients may present in their fourth decade of life with progressive AS, or they may do well into late adulthood. Aortic insufficiency may be a concomitant or primary lesion. Aortic dilation does not have a predictable pattern of progression, and routine follow-up and echocardiography are recommended. Unicuspid aortic valve may progress with AS at a slightly younger age, and quadricuspid aortic valve is diagnosed rarely, but the approach to assessment and surgical correction is similar to that for BAV. In patients diagnosed in late adulthood with BAV, associated lesions should not be overlooked, including aortic dilation, coarctation of the aorta, and, occasionally, other left-sided obstructi