A 12-year-old girl is brought to the physician by her parents, who are concerned about her loss of interest in playing sports at school. During a recent competition, she walked off the field in the middle of the game, complaining about the pain in her legs. The patient has no other medical conditions and takes no medications. Her vaccination schedule is up-to-date. Physical examination shows pulsatile vessels within the intercostal spaces and diminished femoral pulses relative to brachial pulses. This patient's symptoms are most likely associated with which of the following conditions?

Question

A 12-year-old girl is brought to the physician by her parents, who are concerned about her loss of interest in playing sports at school.  During a recent competition, she walked off the field in the middle of the game, complaining about the pain in her legs.  The patient has no other medical conditions and takes no medications.  Her vaccination schedule is up-to-date.  Physical examination shows pulsatile vessels within the intercostal spaces and diminished femoral pulses relative to brachial pulses.  This patient's symptoms are most likely associated with which of the following conditions?

Quizplus · Accepted Answer

11ec160b_3755_be2e_9249_1d4b52bfd233_MD0001_00 This patient most likely has congenital coarctation of the aorta, which typically affects the region of the aorta just distal to the left subclavian artery. Although traditionally classified into preductal and postductal types, the signs and symptoms of aortic coarctation depend more on the age at presentation, which varies according to the severity of the stenosis. Severe coarctation usually presents in infancy with differential cyanosis affecting the lower extremities as long as the ductus arteriosus remains patent. On ductal closure, these neonates can develop signs of heart failure and shock. More moderate stenosis often presents in childhood or adolescence with symptoms of lower-extremity claudication (eg, pain and cramping with exercise), blood pressure discrepancy between the upper and lower extremities, and delayed or diminished femoral pulses. Continuous murmurs and pulsatile intercostal collaterals can also develop secondary to restricted circulation. Congenital aortic coarctation occurs in up to 10% of patients with Turner syndrome (45,XO). (Choice A) DiGeorge syndrome is associated with at least 15% of cases of interrupted aortic arch, a more extreme anomaly than aortic coarctation in which the aortic arch is atretic or a segment of the arch is absent. Affected patients have poor lower-extremity pulses, but respiratory distress, variable cyanosis, and signs of congestive heart failure will also develop during the first days of life. (Choice B) Down syndrome is associated with endocardial cushion defects that result in ostium primum atrial septal defects and regurgitant atrioventricular valves. (Choice C) Friedreich ataxia is marked by spinocerebellar degeneration with predominantly spinal ataxia. This can produce difficulty walking, but femoral pulses are not affected. This autosomal recessive condition is associated with hypertrophic cardiomyopathy. (Choice D) In Kartagener syndrome, cilia are immotile due to a microtubular dynein arm defect. Infertility, recurrent sinusitis, and bronchiectasis occur as a result. This syndrome is associated with situs inversus, not aortic coarctation. (Choice E) Marfan syndrome is associated with cystic medial necrosis of the aorta, which may result in aortic dissection and aortic valve incompetence. Mitral valve prolapse can also occur due to the same degenerative process. (Choice F) Tuberous sclerosis is an autosomal dominant syndrome characterized by cutaneous angiofibromas (adenoma sebaceum), seizures, and mental retardation. Pathological lesions include central nervous system hamartomas and benign neoplasms, renal and other visceral cysts, and cardiac rhabdomyomas. Educational objective: Aortic coarctation in a child/young adult presents with lower-extremity claudication (eg, pain and cramping with exercise), blood pressure discrepancy between the upper and lower extremities, and delayed or diminished femoral pulses. Turner syndrome (45,XO) is associated with coarctation of the aorta in up to 10% of cases.

A 12-Year-Old Girl Is Brought to the Physician by Her