A Child With a Murmur and an Unusual Chest X-ray

An asymptomatic 3-year-old boy presents to the pediatrician's office for a routine well child visit. On physical exam, he has normal vitals with no dysmorphic features. The precordium is quiet with normal heart sounds. A grade I out of VI soft systolic ejection murmur is heard at the base. A grade III out of IV high-frequency holodiastolic murmur is heard at the left midsternal border radiating to the apex. Pulses are prominent but equal. There is no sternal deformity, hypermobility, skin striae, or abnormal scarring. There is no family history of congenital heart disease, cardiomyopathy, connective tissue disorder, sudden cardiac arrest, or sudden death. His chest X-ray is shown in Figure 1. Select images from the echocardiogram (echo) are shown in Videos 1, 2, 3 and 4. Computed tomography (CT) angiography three-dimensional reconstruction is shown in Video 5.

Figure 1: Chest X-Ray

Figure 1

Video 1: Echo: Parasternal Long-Axis View

Video 2: Echo: Suprasternal View

Video 3: Parasternal Short-Axis View

Video 4: Echo: Parasternal Long-Axis View

Video 5: CT Angiogram of Entire Aorta

Which of the following tests are recommended for the child and other family members to identify the etiology of his condition and its long-term prognosis?

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