A 25-year-old man presented with a history of bicuspid aortic valve (BAV), moderate aortic valve stenosis, moderate aortic valve insufficiency, dilated aortic root, and left ventricular noncompaction cardiomyopathy.

He was born with BAV and severe aortic valve stenosis and underwent surgical aortic valvotomy at 2 days of age. There was recurrence of the aortic valve stenosis requiring percutaneous balloon valvuloplasty at age 1 year and again at age 2 years. He ultimately required repeat surgical valvotomy at age 4 years which also included supravalvular aortoplasty with a Gore-Tex patch. He was also noted to have short stature and developmental delay. Genetic evaluation was pursued with no definitive diagnosis being established. He has been seen in scheduled follow-up since and had done reasonably well without report of cardiovascular related symptoms until 2 years ago when he began experiencing 2 pillow orthopnea and increasing fatigue with activity. Up until this time, he was living alone and working part time in a factory.

Assessment of his symptoms at that time included an echocardiogram which revealed moderate-to-severe aortic insufficiency with preserved left ventricular ejection fraction (LVEF). However, detailed assessment of the left ventricular apex showed abnormal myocardium consistent with left ventricular noncompaction (LVNC). Diuretic therapy was instituted to manage his orthopnea. He was referred to the care of the Adult Congenital Heart Disease (ACHD) and Cardiomyopathy services for further management. He continued to have heart failure (HF) symptoms and had worsening aortic insufficiency on serial imaging studies with a decline in his LVEF. Treatment with appropriate heart failure therapies was instituted and aspirin was given for his diagnosis of LVNC. Based on his severe aortic insufficiency and worsening LV systolic function, he was referred for elective replacement of his aortic valve.

He underwent successful aortic valve replacement with a 21-mm Carpentier Edwards prosthetic valve. He did well postoperatively and was discharged to home on postoperative day 6 on his preoperative medical regimen with the substitution of Coumadin for aspirin therapy. Outpatient evaluation 1 week after discharge was significant for complete resolution of his heart failure symptoms. An echocardiogram at that time revealed improvement in his LVEF with mild systolic dysfunction (LVEF 48%) and no evidence of significant prosthetic aortic valve stenosis or insufficiency.

CASE EXPLANATION

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  Many, if not all, ACHD patients are at risk of HF whether unrepaired, repaired, or palliated.

  
  
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  Several of these patients may have underlying myocardial dysfunction, valvular heart disease along with exercise intolerance. Some progress to have heart failure.

  
  
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  Myocardial dysfunction (right, left, or biventricular) is a common final pathway for these patients, which underscore the need for surveillance of systolic and diastolic function as well as resting and provocable HF symptoms.

  
  
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  Recognition of dysfunction prior to symptoms allows for institution of appropriate medical therapies and more regimented evaluations in an attempt to avoid progression to more advanced stages of HF.

  
  
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  The above patient underscores the importance of lifelong surveillance for adult congenital patients. Without appropriate ongoing evaluations, myocardial dysfunction may ensue resulting in symptoms of heart failure as well as associated morbidity and mortality.

  
  
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  Management by providers familiar with heart failure and cardiomyopathy results in opportunity for timely and needed intervention to avoid adverse outcomes.

EPIDEMIOLOGY

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  The diagnosis of heart failure continues to be a major cause of morbidity and mortality in children and adults worldwide. There are an estimated 5 million adults in the United States alone living with heart failure with approximately 650,000 new cases diagnosed each year.^{1, 2} These numbers likely are an underestimate of disease burden as they do not reflect pediatric patients or those adults surviving with palliated or repaired congenital heart disease.

  
  
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  There are now over 1 million adults with congenital heart defects (CHD) in the USA. Because of these steadily increasing numbers and many have concomitant myocardial dysfunction, the number of patients developing heart failure is also on the rise. The prevalence of HF in ACHD remains poorly defined. More importantly, agreement on appropriate HF treatment strategies does not exist secondary to the heterogeneity of the population and a paucity of published data. Those ACHD subpopulations likely at highest risk of HF include single ventricle physiology, two ventricle circulations with a systemic right ventricle, and repaired tetralogy of Fallot.³

  
  
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  The ACHD is aging secondary to increased awareness and improved care. Patients over the age of 60 with moderate or severe congenital heart defects have high mortality rates and higher utilization of health care resources with symptoms of HF, New York Heart Association (NYHA) class, and systemic ventricular dysfunction being independent predictors of outcome.⁴

  
  
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  In addition, patients with genetically triggered myocardial disease would also be predisposed to HF in conjunction with congenital heart disease.^{5, 6}

ETIOLOGY AND PATHOPHYSIOLOGY

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  Heart failure is a complex clinical syndrome that is a result of a functional or structural impairment of the ventricular filling or ejection of blood.⁷ Historically, heart failure has been defined using the NYHA Functional Classification ranging from stage I (No limitations on physical activity) to stage IV (symptoms of heart failure at rest).⁸

  
  
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  The diagnosis of heart failure may apply when symptoms of heart failure occur at rest or during exercise, which mainly include dyspnea, and to a lesser extent exertional fatigue, along with objective evidence of systolic and/or diastolic cardiac dysfunction. When the diagnosis is not clear, a favorable response to treatment directed toward heart failure may aid in the diagnosis.

  
  
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  An alternative classification strategy has been adopted that take into account structural abnormalities as well as risk factors that place individuals at risk for heart failure (stages A-D).

  
  
  
  
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    Patients who are at risk of HF but without evidence of structural heart disease fall under stage A.

    
    
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    Those patients with evidence of structural heart disease but without HF symptoms are categorized as stage B.

    
    
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    Those patients with evidence of structural heart disease and either current or prior symptoms of HF categorized as stage C.

    
    
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    Patients with refractory HF requiring advanced interventions are categorized as stage D.

  
  
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  Based on these classifications, patients with ACHD would all be classified in one of these stages with many being stage A or B.

  
  
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  Heart failure is typically subcategorized by the presence of systolic dysfunction (heart failure with reduced ejection fraction or HFrEF) or absence of systolic dysfunction (heart failure with preserved ejection fraction or HFpEF).

  
  
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  Our patient progressed from to stage C HF in the face of appropriate medical therapy. He had concomitant valvular disease that prompted a surgical intervention but currently remains in stage C. Many, if not all, ACHD patients are at risk of HF whether unrepaired, repaired, or palliated. Myocardial dysfunction (right, left, or biventricular) is a common final pathway for these patients, which underscores the need for surveillance of systolic and diastolic function as well resting and provocable HF symptoms.

  
  
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  Recognition of dysfunction prior to symptoms allows for institution of appropriate medical therapies and more regimented evaluations in an attempt to avoid progression to more advanced stages of HF.

  
  
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  Heart failure in the adult with CHD may occur for a variety of reasons some of which include primary myocardial disease, myocardial dysfunction secondary to structural heart disease, changes in function after cardiopulmonary bypass, and underlying metabolic or syndromic disease.

  
  
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  Certain lesions, such as Mustard or Senning repair of d-transposition of the great arteries (TGA), congenitally corrected TGA (CC-TGA), and single ventricle circulations (cyanotic patients or patients who have had a Fontan repair), are at risk for systemic ventricular dysfunction. Other congenital heart lesions are at risk for subpulmonary ventricular dysfunction, including repaired tetralogy of Fallot with severe pulmonary regurgitation, Ebstein’s anomaly, and patients with pulmonary hypertension.

  
  
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  Mustard and Senning patients have a 32% to 48% rate of systemic right ventricular systolic dysfunction at 15 to 18 years of follow-up. Clinical heart failure occurs in 10% to 22% of these patients.^{9, 10, 11}. Notably, the Mustard and Senning procedure were both abandoned in most centers in the 1980s in favor of the arterial switch for patients with D-TGA.

  
  
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  Arterial switch patients are not particularly prone to congestive heart failure since their systemic ventricle is their left ventricle.

  
  
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  Patients with CC-TGA usually have a left atrium connected to a right ventricle connected to the aorta, and a right atrium connected to a left ventricle connected to the pulmonary artery. CC-TGA patients often have systemic ventricular dysfunction. To some extent this is a function of age, but it may also be related to the development of substantial systemic tricuspid regurgitation. A group of patients with CC-TGA have associated lesions such as ventricular septal defects (VSDs) and pulmonary stenosis, and many have had corrective surgery which has left the right ventricle in the systemic position.

  
  
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  Patients with functionally single ventricles are certainly prone to both systolic and diastolic ventricular dysfunction. In an adult series, the prevalence of clinical heart failure in Fontan patients was 40% 16 years after the procedure.¹⁰ The probability of developing heart failure in patients with single ventricles, tetralogy of Fallot, D-TGA S/P Mustard patients, left-to-right shunt patients, valve disease patients, and aortic coarctation patients³ (Figure 15-1).

  
  
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  Systemic ventricular dysfunction is less likely to occur but can occur in the settings of uncorrected aortic or mitral valve disease, uncorrected aortic coarctation, or uncontrolled systemic hypertension. Ventricular dysfunction or valvular dysfunction occurs for a variety of reasons. Some ACHD patients may have or develop comorbidities that cause heart failure, such as coronary artery disease or forms of associated cardiomyopathy, such as dilated, hypertrophic, and noncompaction cardiomyopathy.

  
  
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  Our patient had LVNC which is a primary cardiomyopathy characterized by trabeculations in left ventricle (Figure 15-2). Other comorbidities may precipitate heart failure and/or make it more difficult to manage, such as atrial fibrillation, hyperthyroidism, and infective endocarditis. ACHD patients with heart failure do have elevated neurohormonal markers, but to a lesser degree than heart failure patients with acquired heart disease.

  
  
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  There are a group of CHD patients who have had coronary artery reimplantation. This includes patients who have had an arterial switch procedure, a valve-sparing aortic root replacement, and a Bentall procedure. These patients may develop stenoses or occlusions of these anastomoses with consequent myocardial damage, myocardial dysfunction, or angina pectoris. Optimal surveillance for asymptomatic patients who have had coronary reimplantation is controversial.

  
  
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  Patients may also have valvular disease which was seen in our patient. Significant stenosis or regurgitation may lead to myocardial dysfunction as well as symptoms of HF. In the setting of a primary cardiomyopathy or additional structural heart disease, HF symptoms may present at an earlier stage of valvular dysfunction.

DIAGNOSIS

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  The diagnosis of heart failure may be made when symptoms of heart failure including dyspnea, and to a lesser extent exertional fatigue occur at rest or during exercise and there is objective evidence of systolic and/or diastolic cardiac dysfunction by echocardiography or cardiac magnetic resonance imaging (CMRI).

  
  
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  In some cases the diagnosis of heart failure may not be clear; in this case, a favorable response to treatment directed toward heart failure, can aid in the diagnosis.

  
  
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  We will not discuss the issue of ventricular dysfunction in ACHD patients in the absence of heart failure symptoms, which is beyond the scope of this section.

Clinical History

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  Symptoms of pulmonary venous congestion include dyspnea (exertional or at rest), orthopnea, cough, or hemoptysis. All forms of heart failure may be associated with exertional fatigue, reflecting a low-output state.

  
  
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  Symptoms of systemic venous congestion include dependent edema, symptomatic hepatic congestion, and ascites.

Physical Examination

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  Physical examination findings of pulmonary venous congestion include tachypnea, crackles at the lung bases or more extensively, wheezing, pleural effusions, and a third heart sound. Physical findings of systemic venous congestion include elevation of the jugular venous pressure, hepatomegaly, ascites, and dependent edema, notably including presacral edema.

DIAGNOSTIC STUDIES

ECG and Holter Monitor

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  Electrocardiographic (ECG) monitoring may be useful in the detection of conduction system disease as well as significant arrhythmias. Findings may include varying degrees of heart block including bundle branch, atrial or ventricular ectopy, brady- or tachyarrhythmias, ST segment abnormalities, Q-waves indicating prior infarction, and T-wave abnormalities.

  
  
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  Findings of these tests may influence ongoing management such as need for a pacemaker and/or defibrillator⁵ (Figures 15-3A, 15-3B, 15-3C, 15-3D, 15-3E, 15-3F, 15-3G).