Question 129

Question:

A 16-year-old girl presents with primary amenorrhea. On further inspection, she has broad shoulders with widely spaced nipples, webbed neck, and short stature. A chromosome analysis is pending. Which of the following congenital cardiovascular defects is associated with this syndrome?

Correct Answer: A.  Coarctation of the aorta

Patients with Turner’s syndrome (XO karyotype) usually develop with the listed physical characteristics. In addition, they often have coarctation of the aorta, which may not be detected until several years of age by unequal blood pressure in upper versus lower extremities. Incidentally, Turner’s is also associated with bicuspid aortic valve. Transposition of the great vessels can occur in isolation or in association with maternal illnesses such as Lupus and diabetes. Cystic medial necrosis involves degeneration of elastic fibers in the ascending aorta, associated with Marfan syndrome or Ehlers-Danlos syndrome, and predisposes these patients to aneurysms. A patent ductus arteriosus can be associated with congenital rubella infection. Tetralogy of Fallot can be associated with 22q11 syndromes like DiGeorge syndrome.