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Atrial septal defect
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Ebstein cardiac anomaly
Patent ductus arteriosus
Rheumatic heart disease
Ventricular septal defect
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This patient presents with an asymptomatic harsh holosystolic murmur best heard at the left sternal border as well as a history of infections. They most likely have a previously undiagnosed ventricular septal defect. A ventricular septal defect is a congenital defect resulting in an opening in the interventricular septum of the heart. This type of defect creates an intra-cardiac shunt that allows for blood to move from the left to the right side of the heart. The turbulent movement of blood through this defect is heard as a harsh holosystolic murmur best appreciated over the left sternal border. Larger defects can present with softer murmurs because there is less turbulence in the flow. Over time, this shunting of blood results in increased volume in the pulmonary vasculature and pulmonary hypertension that can result in reversal of flow known as Eisenmenger syndrome. Patients are often asymptomatic throughout the early years of childhood but may present with shortness of breath, fatigue, failure to thrive, and difficulty with feeding. Management includes echocardiogram to diagnose the disorder and surgical reconstruction to repair the defect. Asschenfeldt et al. studied the neurological development of children who underwent repair of congenital atrial septal and ventricular septal defects. They found that these patients had an increased rate of neurodevelopmental disability and altered cerebral microstructure. They recommend increased awareness of these complications in patients with congenital heart defects. Incorrect Answers: Answer 1: Atrial septal defects would present with a fixed split S2 due to the shunting of blood between the left and right sides of the heart. This condition is usually asymptomatic during childhood but may present with delayed pulmonary hypertension. Patients may also have a soft midsystolic murmur heard in the left upper sternal border. Answer 2: Ebstein cardiac anomaly is caused by lithium use in utero and manifests as displacement of the tricuspid valve leaflets towards the apex of the heart. This condition may also present with an asymptomatic murmur best appreciated at the left sternal border; however, the associated tricuspid regurgitation would be best heard as an early systolic decrescendo murmur. More severely affected patients can have heart failure and failure to thrive. Answer 3: Patent ductus arteriosus is a congenital heart defect that is caused by a persistent connection between the pulmonary artery and the aorta. This disease is usually asymptomatic; however, it would present with a continuous "machine-like" murmur that varies in intensity and pitch over time best heard in the left upper sternal border. A large patent ductus arteriosus may also result in reversal of flow and Eisenmenger syndrome over time. Answer 4: Rheumatic heart disease affects children with untreated Streptococcus pyogenes infection and primarily occurs in places with poor access to healthcare. This disease most commonly causes mitral valve stenosis, which would be heard as a mid-diastolic rumbling murmur with an opening snap best appreciated at the apex of the heart. Heart failure may ensue. Bullet Summary: Ventricular septal defects often present with an asymptomatic harsh holosystolic murmur best appreciated at the left sternal border and more frequent childhood infections.
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