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Review Question - QID 109796

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QID 109796 (Type "109796" in App Search)
A 2-month-old infant presents for a well-child visit. The mother, a recent immigrant from El Salvador, delivered her child in the United States with an unclear prenatal history. Her child sleeps throughout the day and night but has also had 3 "flu" episodes during which the infant coughed and felt feverish. She managed each episode using traditional non-pharmacological remedies. Because the baby sleeps so much, he rarely breastfeeds. His temperature is 99.5°F (37.5°C), blood pressure is 70/30 mmHg, pulse is 160/min, respirations are 27/min, and oxygen saturation is 91% on room air. On physical exam, the patient is the 5th percentile for weight and height. He has a hyperinflated thorax and is tachypneic. Auscultation of the heart reveals a holosystolic murmur heard at the left lower sternal border and a diastolic rumble at the apex. Chest radiography is shown in Figure A. Which of the following is the most likely diagnosis?
  • A

Atrial septal defect

0%

0/54

Endocardial cushion defect

20%

11/54

Mitral regurgitation

0%

0/54

Tetralogy of Fallot

48%

26/54

Ventricular septal defect

28%

15/54

  • A

Select Answer to see Preferred Response

This infant with failure to thrive and chronic respiratory infections in the setting of an abnormal cardiac exam likely has a ventricular septal defect (VSD).

VSD is the most common congenital cardiac defect. Clinical presentation of VSD depends on the size of the defect and the pulmonary flow and pressure. Small defects can be asymptomatic. The murmur of a VSD is typically a harsh pansystolic murmur at the left lower sternal border, often associated with a thrill. Large defects can cause dyspnea, feeding difficulties, and poor growth. Electrocardiography can suggest left ventricular hypertrophy as there is increased workload on the left heart due to excessive blood returning to the left heart from the left to right shunt that increases pulmonary blood flow and return to the left ventricle. In patients with elevated right ventricular pressure, right ventricular hypertrophy can also be seen on ECG. Echocardiography and surgical repair is warranted for large VSDs.

Elmarsafawy et al. review the evidence regarding the treatment of patients with ventricular septal defects. They discuss how the outcomes after closure of the defect are satisfactory. They recommend monitoring patients for long-term complications such as progressive heart block.

Figure/Illustration A shows a chest radiograph with a grossly enlarged heart (red circle), prominent pulmonary arteries, and increased pulmonary vascular markings. These findings are consistent with heart failure.

Incorrect Answers:
Answer 1: Atrial septal defects (ASD) usually present with a systolic ejection murmur in the left upper sternal border and a wide, fixed split S2. Patients are often asymptomatic during childhood. Treatment is observation or surgical closure if the defect becomes symptomatic.

Answer 2: Endocardial cushion defects occur when ASD and VSD are present and contiguous, with mixed cardiac auscultatory findings. Trisomy 21 patients are at the highest risk for these defects. Treatment is with surgical reconstruction of the interventricular septum.

Answer 3: Mitral regurgitation murmur is that of a high-pitched, holosystolic murmur best heard at the apex. Symptoms can be similar to that of VSD. Patients often have previous underlying history of rheumatic fever or infection. Treatment is with valve replacement.

Answer 4: Tetralogy of Fallot (ToF) includes pulmonary stenosis, VSD, dextroposition of the aorta, and right ventricular hypertrophy. Symptoms depend on the size of the VSD and the degree of the right ventricular outflow tract obstruction. Harsh systolic ejection murmurs are present with a single or soft S2. Treatment is with surgical reconstruction.

Bullet Summary:
Ventricular septal defect (VSD) is associated with a holosystolic murmur heard at the left lower sternal border and a diastolic rumble at the apex.

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