A 1-day-old boy is in the neonatal intensive care unit due to congenital anomalies noted at birth. The infant was born vaginally at 36 weeks gestation to a 25-year-old woman, gravida 2 para 2, who declined prenatal testing and reported decreased fetal movement in the week preceding delivery. The infant was not latching well for the first 24 hours but has urinated and stooled. Examination shows a small face and jaw with a prominence on the back of the head. The oral mucosa is pink, but the hands and feet are mildly cyanotic. There are no skin creases on the palmar aspect of the digits. There is overlapping of the fingers bilaterally along with convexity of bilateral soles and limited hip abduction. A murmur at the left lower sternal border is heard on auscultation. Which of the following cardiovascular abnormalities is most likely present in this patient?

Question

A 1-day-old boy is in the neonatal intensive care unit due to congenital anomalies noted at birth.  The infant was born vaginally at 36 weeks gestation to a 25-year-old woman, gravida 2 para 2, who declined prenatal testing and reported decreased fetal movement in the week preceding delivery.  The infant was not latching well for the first 24 hours but has urinated and stooled.  Examination shows a small face and jaw with a prominence on the back of the head.  The oral mucosa is pink, but the hands and feet are mildly cyanotic.  There are no skin creases on the palmar aspect of the digits.  There is overlapping of the fingers bilaterally along with convexity of bilateral soles and limited hip abduction.  A murmur at the left lower sternal border is heard on auscultation.  Which of the following cardiovascular abnormalities is most likely present in this patient?

Quizplus · Accepted Answer

11ec25c8_d63c_1041_bc81_574ff4470f1e_MD0003_00 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. ventricular septal defect 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. (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. patent ductus arteriosus (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. Transposition of the great arteries truncus arteriosus Educational objective: Trisomy 18 (Edwards syndrome) is characterized by micrognathia, microcephaly, rocker-bottom feet, overlapping fingers, and absent palmar creases. Ventricular septal defect is common in these patients and presents with a holosystolic murmur at the left lower sternal border. References: The trisomy 18 syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/23088440)

A 1-Day-Old Boy Is in the Neonatal Intensive Care Unit