Cardiomegaly in a young infant

Case Presentation A male infant was born at term (vaginal route, forceps used at the mid-pelvic level) after an uneventful pregnancy to a 30-year-old primigravida, in whom polyhydramnios was noted at surgical rupture of the membranes. Late decelerations of the fetal heart were noted during the first stage of labor. Birth weight was 2.58 kg (at the 5th percentile for a term male), and he was symmetrically growth retarded, with supine body length of 48 cm and head circumference of 32 cm. Apgar scores were 4 and 6 at 1 and 5 minutes, respectively. The newborn infant was mildly cyanotic with a weak cry, poor tone, and mild generalized edema. Dysmorphic features were described, including a small asymmetric head with flattened occiput, low-set and posteriorly rotated ears, short limbs, micropenis, undescended testes, and hypoplastic scrotum. Facial petechiae, mild jaundice, and hepatosplenomegaly also were present, and a heart murmur was audible. The infant was transferred to a tertiary care center at 16 hours of age. On examination, the infant was not cyanosed and had a normal heart and respiratory rate in 27% head-box oxygen. Systolic blood pressures in arm and leg were 80 and 82 mmHg, respectively. The external dysmorphic features described at birth were confirmed. The liver and spleen were palpable, 3 cm and 1.5 cm, respectively, below the costal margin. Cardiac examination showed parastemal heave and a grade 3/e systolic murmur, a normal S2 sound, and accentuation of the P2 sound.