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A. Atrial septal defect
B. Congenital atrioventricular block
C. Patent ductus arterious
D. Translocation of the great arteries
E. Truncus arterious
F. Ventricular septal defect
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Case #18
Subject: Embryology
The correct answer is F [ 70% ]
This patient's microcephaly, micrognathia, overlapping fingers, absent palmar creases, and rocker-bottom feet are consistent with trisomy 18 (Edwards syndrome). Congenital heart disease occurs in more than half of affected patients, with ventricular septal defect (VSD) being the most common abnormality. As pulmonary vascular resistance decreases after birth, VSD presents as a holosystolic murmur that is best heard at the left lower sternal border. Central cyanosis, which typically affects the trunk and mucous membranes, is not usually present with an isolated VSD, as evidenced by this infant's pink oral mucosa. This patient does have acrocyanosis, or peripheral cyanosis, which affects the hands and feet and is present in most healthy newborns.
The prognosis for trisomy 18 is very poor as most affected children die in the first month of life. Surgical repair of VSD improves survival, but those who survive are severely intellectually disabled.
Medcloud™
Case #18
Subject: Embryology
Medcloud™
Case #18
Subject: Embryology
(Choices A and C) Atrial septal defect and patent ductus arteriosus are associated with trisomy 18. However, atrial septal defect most commonly presents with a fixed, split S2 (due to delayed closure of the pulmonic valve) and/or a systolic ejection murmur at the left upper sternal border (due to increased blood flow across the pulmonic valve). Patent ductus arteriosus presents with a continuous flow murmur best heard in the left subclavicular region. None of these findings are present in this neonate.
Medcloud™
Case #18
Subject: Embryology
(Choice B) Congenital heart block primarily causes bradycardia and is associated with neonatal lupus, which typically presents as erythematous, annular rashes on the scalp and periorbital region.
(Choices D and E) Transposition of the great arteries and truncus arteriosus are congenital heart defects that present with central cyanosis and a single S2 sound. This infant has acrocyanosis, or peripheral cyanosis, a normal finding in the first few days of life. Truncus arteriosus is associated with DiGeorge syndrome, but neither defect is associated with trisomy 18.
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