Match each patient's clinical presentation to the most likely underlying cardiovascular anomaly.
- A 4-year-old boy with elfin facial features, developmental delay, hypercalcemia, and a systolic ejection murmur heard best at the right upper sternal border.Supravalvular aortic stenosis
- A 15-year-old girl with primary amenorrhea, short stature, a webbed neck, and diminished femoral pulses compared to brachial pulses.Coarctation of the aorta
- A 3-day-old cyanotic neonate with hypocalcemic seizures, a cleft palate, and echocardiography showing a single large vessel arising from the heart.Truncus arteriosus
- A 2-month-old infant with hypotonia, upslanting palpebral fissures, a single palmar crease, and a loud S1 with a hyperdynamic precordium.Complete atrioventricular septal defect
- A newborn infant presenting with severe bradycardia (heart rate of 45/min) born to a mother with a history of recurrent miscarriages and joint pains.Congenital complete heart block
Answer
Williams syndrome pairs with supravalvular aortic stenosis; Turner syndrome pairs with coarctation of the aorta; DiGeorge syndrome pairs with truncus arteriosus; Down syndrome pairs with complete atrioventricular septal defect; and Neonatal lupus pairs with congenital complete heart block.
Each clinical vignette provides classic physical exam and historical clues for a specific syndrome. Williams syndrome (elfin facies, hypercalcemia) causes supravalvular aortic stenosis. Turner syndrome (short stature, webbed neck, amenorrhea) is linked to coarctation of the aorta. DiGeorge syndrome (hypocalcemia, cleft palate, conotruncal defects) is linked to truncus arteriosus. Down syndrome (hypotonia, typical facies) is linked to complete atrioventricular septal defect. Maternal SLE (recurrent miscarriages, joint pain) with anti-Ro antibodies causes congenital complete heart block in the neonate.
Step-by-Step Solution
Key Concept
Many pediatric cardiovascular disorders are strongly associated with specific genetic syndromes or maternal autoimmune conditions. Recognizing the syndromic phenotype is critical for targeted screening, accurate diagnosis, and appropriate management of the underlying cardiac defect.