A 5-Week-Old Boy Is Being Evaluated for a Week-Long History

A 5-week-old boy is being evaluated for a week-long history of rapid breathing and tiring with feeds.  The infant was born at home after an uneventful pregnancy.  The mother declined all prenatal testing and ultrasound evaluations.  His temperature is 36.7 C (98 F) , blood pressure is 76/38 mm Hg, pulse is 124/min, and respirations are 66/min.  The patient's cardiovascular examination is notable for a hyperdynamic precordium, a mid-diastolic rumble at the left sternal border, and a 3/6 holosystolic murmur in the apex that radiates to the left axilla.  An echocardiogram shows defects in the lower part of the interatrial septum and the interventricular septum.  This patient's condition is most likely associated with which of the following genetic conditions?

A) 22q11.2 deletion
B) Autosomal trisomy
C) Fibrillin mutation
D) Frataxin mutation
E) Hamartin gene mutation
F) Sex chromosome monosomy

Correct Answer:

Verified

Unlock this answer now
Get Access to more Verified Answers free of charge

Access For Free