Congenital heart disease (CHD) is the most common birth defect, occurring in 1 in 100 live births. There is a wide spectrum ranging from small ventricular septal defects (VSD), which spontaneously close before adulthood to complex disease states that require lifelong cardiac care. Children with history of CHD were restricted from exercise until studies demonstrated how exercise can have cardiovascular and quality of life benefits for individuals with surgical repairs (1,2). Because of the advances in diagnosis and surgical repair, the prevalence of adult survivors with CHD continues to grow at a pace of 5% per year, so that there are more than 1 million adults with CHD in the United States (4). These patients often perceive themselves to be “cured” because of surgical repair at a young age. As these individuals become adolescents and adults, they often seek medical advice regarding exercise and sports. Some individuals, however, continue to have reduced exercise capacity from residual abnormalities, and others live with fear and anxiety regarding physical activity. They are often lost to cardiac follow-up and present in adulthood with complications related to their prior repair. It is important to evaluate any patient with history of surgical repair before prescribing exercise. Remember that there are many forms of CHD that present initially in adulthood.
KEY POINTS IN THE HISTORICAL ASSESSMENT
Simple types of CHD include repaired and unrepaired problems shown in the Table. Patients with repaired defects without residual shunt or pulmonary hypertension can participate in all sports without restriction. Patients with unrepaired defects such as a small-to-moderate atrial septal defect (ASD) or patent ductus arteriosus (PDA) are typically asymptomatic. Late symptoms include dyspnea on exertion or palpitations, and these patients will have history of a murmur. Arrhythmia, heart failure, and pulmonary hypertension are late complications. These patients will need to be referred for further imaging and closure of the shunt before participation in physical activity.
Moderate-to-complex types of CHD are outlined in the Table. Initial presentation of these lesions in adulthood is rare. Athletes may complain of dyspnea on exertion, dizziness with exertion, palpitations, or syncope. They may have history of a heart murmur, cyanosis, or clubbing. Heart failure, arrhythmias, and sudden cardiac death are shared complications of all these defects. For instance, an athlete may complain of dizziness with exertion and be found to have atrioventricular (AV) block with exercise secondary to AV conduction disease commonly seen in congenitally corrected transposition of the great arteries. In this defect, the patient has atrioventricular and ventriculoarterial discordance whereby the morphologic right ventricle is the systemic ventricle. These patients are prone to complete heart block later in life. Another example of de novo presentation of CHD in adulthood includes hypertension in the adolescence or young adult. Coarctation of the aorta is a narrowing of the aortic isthmus at the proximal descending thoracic aorta, which results in hypertension and late complications of aortic aneurysms, heart failure, and sudden death. These patients will need to be referred for further imaging and surgical/percutaneous repair before participation in sports activities. Individuals with repaired coarctation of the aorta and no residual obstruction or aortic dilation can participate in all sports.
More commonly, patients with moderate-to-complex CHD will present having been repaired in early childhood. These individuals will seek recommendation regarding the safety of physical activity. It is important to inquire about symptoms and auscultate for heart murmurs. The history assessment should focus on residual abnormalities that are often present in this patient population such as pulmonary regurgitation in patients with repaired tetralogy of Fallot. Patients with no residual shunting, no significant right ventricular volume overload, and no arrhythmias can participate in all sports. Patients with residual right ventricular hypertension or arrhythmias should only participate in low-intensity sports.
KEY POINTS IN THE PHYSICAL EXAMINATION
1. Peripheral Examination
Blood pressure can be quite helpful in CHD. A large pulse pressure suggests diastolic runoff from PDA, ruptured sinus of Valsalva, or aortic regurgitation, whereas a narrow pulse pressure suggests aortic or left ventricular outflow stenosis. A difference in blood pressure between the arms and legs may suggest coarctation of the aorta or peripheral vascular disease. The presence of cyanosis is always pathologic in CHD and typically represents an intracardiac shunt. Clubbing of the fingers can be seen in cyanotic CHD. Dysmorphic features may alert one to a syndrome such as Turner, Noonan, or Down syndrome.
2. Precordial Examination
Upon examination of the chest, scapular scars suggest previous shunt operations and thoracotomy scars are indicative of previous coarctation or PDA surgery. Palpation of the pericardium identifies the location of the apex beat, which can be located on the right in dextrocardia. A palpable thrill may indicate a prominent murmur. The first heart sound (S1) can be loud in mitral stenosis and diminished and “muffled” in mitral regurgitation. The second heart sound (S2) has two components that are physiologically split during inspiration. Fixed splitting is typically seen in an ASD. A loud P2 can be appreciated in pulmonary hypertension.
A VSD produces a holosystolic murmur located at the left sternal edge. It is differentiated from mitral regurgitation in that it produces a low-pitch “harsh” sound indicating the high pressure gradient across the defect. Diastolic murmurs such as pulmonary regurgitation can be seen years after tetralogy of Fallot repair. A continuous murmur is typically associated with PDA.
Case 1: Soccer Player with Shortness of Breath
A 23-year-old woman with history of repaired VSD and subaortic membrane stenosis at age 5 presents with shortness of breath. She has been playing soccer normally for many years without any difficulty until the last year when she had noted that she was more out of breath with exertion. Upon examination, heart rate is 60 bpm, blood pressure is 100/70, and O2sat is 100%. She has a loud systolic ejection murmur at the left upper sternal border with an RV lift and thrill. Electrocardiogram result was within normal limits. An echocardiogram demonstrated prominent muscle bundles at the right ventricular outflow tract with a peak gradient of 125 mm Hg. The right ventricle was hypertrophied and dilated. There was tricuspid regurgitation and no residual VSD or pulmonary hypertension. A cardiac catheterization confirmed double-chamber right ventricle with a proximal RV pressure of 83/15 and low distal RV pressures. The anomalous muscle bundles were resected from the right ventricular outflow tract without complication. She was able to resume sports activity with no further dyspnea.
Key Point: Residual hemodynamic abnormalities can occur in patients with history of CHD repair.
Case 2: Marathon Runner with Dyspnea on Exertion
A 20-year-old marathon runner presents to her family doctor with increased dyspnea on exertion, climbing two flights of stairs. Her heart rate is 98 bpm, with blood pressure of 100/60. Prior auscultation examination revealed a pulmonic click, which decreased with inspiration, but no click was heard now. She has a systolic ejection murmur best heard at the left second intercostal space and no diastolic murmur. Echocardiography confirmed the diagnosis of pulmonary stenosis. Upon physical examination, she has two components of her second heart sound. The P2 is normally split. Her pulmonic click is the only right-sided heart sound, which diminishes with inspiration. When inspiring, the venous return is increased to the heart, causing the highly mobile domed valve, which has been primed to open with less intensity, and thereby creates a softer click. The absence of a diastolic murmur suggests no concomitant pulmonary regurgitation. Percutaneous valvuloplasty relieved the pulmonary stenosis and allowed her to return to marathon running.
Key Point: Change in physical examination and presence of heart murmur should prompt further evaluation for CHD.
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