A 14-year-old girl is brought to the office for a routine physical examination. The patient will be starting her freshman year of high school soon. She plays the clarinet in the school band but does not play any sports. The patient says that she is not sexually active and does not use tobacco, alcohol, or illicit drugs. Height is at the 5th percentile, and weight is at the 25th percentile. Her temperature is 36.7 C (98 F), blood pressure is 120/80 mm Hg, pulse is 88/min, and respirations are 16/min. Physical examination shows a short and thick neck, a broad chest, and shortened fourth metacarpals bilaterally. A murmur is heard on cardiac auscultation. Which of the following would most likely be seen in an echocardiogram?

Question

A 14-year-old girl is brought to the office for a routine physical examination.  The patient will be starting her freshman year of high school soon.  She plays the clarinet in the school band but does not play any sports.  The patient says that she is not sexually active and does not use tobacco, alcohol, or illicit drugs.  Height is at the 5th percentile, and weight is at the 25th percentile.  Her temperature is 36.7 C (98 F), blood pressure is 120/80 mm Hg, pulse is 88/min, and respirations are 16/min.  Physical examination shows a short and thick neck, a broad chest, and shortened fourth metacarpals bilaterally.  A murmur is heard on cardiac auscultation.  Which of the following would most likely be seen in an echocardiogram?

Quizplus · Accepted Answer

11ec160b_3756_a88f_9249_7bb81eca23eb_MD0001_00 This patient's short stature, short and thick neck, broad chest, and shortened fourth metacarpals are characteristic of Turner syndrome (TS). Bicuspid aortic valve is the most common congenital cardiac malformation in patients with TS. It is usually an isolated abnormality; however, it may occur in combination with other anomalies, particularly aortic coarctation. A nonstenotic bicuspid aortic valve manifests with an aortic ejection sound, which is an early systolic, high-frequency click heard over the right second interspace. As the valve calcifies, it may result in progressive valvular dysfunction, manifesting with aortic stenosis or regurgitation and associated murmurs. Patients with a bicuspid aortic valve are susceptible to infectious endocarditis due to abnormal leaflet structure and turbulent flow. (Choices A and F) Complete atrioventricular canal, atrial septal defect (ASD), and ventricular septal defect (VSD) are the most common cardiac anomalies in Down syndrome. Fixed splitting of the second heart sound is characteristically heard with an ASD, whereas VSDs produce a holosystolic murmur at the left lower sternal border. (Choice C) Mitral stenosis is seen in rheumatic heart disease. It produces a mid-diastolic, low-pitched, rumbling murmur that may begin with an opening snap. (Choice D) A mid-systolic click, often accompanied by a late systolic murmur, is the hallmark of mitral valve prolapse (MVP). MVP is more common in connective tissue disorders such as Marfan and Ehlers-Danlos syndromes. (Choice E) Patent ductus arteriosus (PDA) produces a continuous, machinelike murmur during both systole and diastole. PDA is common in premature infants, especially those with respiratory distress syndrome. A PDA may also be seen in an infant with coarctation of the aorta but is less likely in older patients. Educational objective: Turner syndrome is associated with congenital anomalies of the aorta, and the most common defect is a bicuspid aortic valve. A nonstenotic bicuspid aortic valve can manifest as an early systolic, high-frequency click over the right second interspace. Bicuspid aortic valves are at risk for stenosis, insufficiency, and infection. __________ References: Turner syndrome: diagnosis and management. (http://www.ncbi.nlm.nih.gov/pubmed/17708142) Aortic valve disease in Turner syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/18466808)

A 14-Year-Old Girl Is Brought to the Office for a Routine