A 1-week-old boy is brought to the office for his first primary care visit following an uncomplicated vaginal delivery at 40 weeks gestation. The boy was born to a 30-year-old woman who took prenatal vitamins throughout the pregnancy. She was diagnosed with gestational diabetes mellitus at 28 weeks gestation, which was treated with dietary modification and exercise. The nursery course was uncomplicated, and the boy was discharged at around 30 hours of life following observation of appropriate breastfeeding, voiding, and stooling. His weight, length, and head circumference are at the 50th percentile. Physical examination shows a grade II/VI harsh, holosystolic murmur best heard at the left mid to lower sternal border. Birth records show that no murmur was heard by 2 different health care providers in the newborn nursery. Which of the following is the most likely diagnosis?

Question

A 1-week-old boy is brought to the office for his first primary care visit following an uncomplicated vaginal delivery at 40 weeks gestation.  The boy was born to a 30-year-old woman who took prenatal vitamins throughout the pregnancy.  She was diagnosed with gestational diabetes mellitus at 28 weeks gestation, which was treated with dietary modification and exercise.  The nursery course was uncomplicated, and the boy was discharged at around 30 hours of life following observation of appropriate breastfeeding, voiding, and stooling.  His weight, length, and head circumference are at the 50th percentile.  Physical examination shows a grade II/VI harsh, holosystolic murmur best heard at the left mid to lower sternal border.  Birth records show that no murmur was heard by 2 different health care providers in the newborn nursery.  Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

11ec160b_38ec_3c33_9249_8931a97b5caf_MD0001_00 This patient's presentation is consistent with a ventricular septal defect (VSD), the most common congenital heart lesion. Echocardiography should be performed to confirm the location and size of the VSD. Patients with small VSDs typically have a loud, "blowing," holosystolic murmur at the mid to lower left sternal border and no symptoms. The murmur is not usually detectable at birth, but becomes audible around age 4-10 days as pulmonary vascular resistance (PVR) continues to decline, permitting significant left-to-right shunting. Most small VSDs are hemodynamically insignificant and close spontaneously. In contrast, moderate to large VSDs usually present with heart failure, failure to thrive, and diaphoresis with feeding. Large VSDs may have no murmur as right ventricular pressures are similar to those of the left ventricle. In addition, large VSDs rarely close spontaneously and can result in chronic pulmonary hypertension and cyanosis (Eisenmenger syndrome) if the defect is not closed early in life. (Choice A) Coarctation of the aorta is a non-cyanotic congenital heart disease that can present in infancy with shock when the patent ductus arteriosus closes. Children and adults who present in later life tend to have milder coarctation that manifests as upper body hypertension and collateral intercostal vessels. (Choice B) Ebstein's anomaly is characterized by displacement of a malformed tricuspid valve into the right ventricle. Soon after birth, it presents as cyanosis and heart failure from severe tricuspid regurgitation. (Choices C, E, and F) Atrial septal defects (wide, fixed splitting of S2) and patent ductus arteriosus (continuous murmur) are non-cyanotic congenital heart diseases. These initially cause left-to-right intracardiac shunting, although untreated large defects may become complicated by Eisenmenger syndrome. (Choice D) Peripheral pulmonary stenosis (ie, pulmonary branch stenosis) is a common cause of innocent murmur that is heard after the first day of life when the patent ductus arteriosus is closed. The murmur results from the relative hypoplasia of branch pulmonary arteries compared to the relatively large main pulmonary artery. Auscultation may reveal a low-grade, mid-systolic, high-pitched, or blowing ejection murmur that is best heard in the pulmonary area with radiation to the axilla and back. (Choice G) Tetralogy of Fallot symptoms depend on the severity of right ventricular outflow obstruction. Those with severe obstruction present with profound cyanosis in infancy, but patients with moderate obstruction have "tet" spells later in childhood. (Choice H) The hallmark of Wolff-Parkinson-White (WPW) syndrome is preexcitation, which manifests on ECG as a short PR interval, delta wave, and widening of the QRS complex. Arrhythmias are associated with WPW but not with murmurs. Educational objective: Ventricular septal defect (VSD) typically presents in the neonatal period after pulmonary vascular resistance has declined. The clinical presentation depends on the size of the defect, which ranges from an asymptomatic holosystolic murmur (small VSD) to heart failure (large VSD). __________ References: Ventricular septal defect. (http://www.ncbi.nlm.nih.gov/pubmed/21349577) Evaluation and management of heart murmurs in children. (http://www.ncbi.nlm.nih.gov/pubmed/22010618)

A 1-Week-Old Boy Is Brought to the Office for His