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Review Question - QID 109344

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QID 109344 (Type "109344" in App Search)
A 9-year-old girl presents to the pediatrician for short stature. The patient is in 3rd grade and is the shortest child in her class. She is otherwise doing well in school, and her teacher reports that she is at or above grade level in all subjects. The patient has many friends and plays well with her 2 younger siblings at home. She has a past medical history of mild hearing loss in her right ear, which her previous pediatrician attributed to recurrent bouts of otitis media when she was younger. The patient’s mother is 5 feet 6 inches tall and her father is 6 feet tall. Her family history is otherwise significant for hypothyroidism in her mother and hypertension in her father. The patient’s weight and height are in the 40th and 3rd percentile, respectively. Her temperature is 97.7°F (36.5°C), blood pressure is 155/94 mmHg, pulse is 67/min, and respirations are 14/min. On physical exam, the patient has a broad chest with widely spaced nipples. She is noted to have a short 4th metacarpal and moderate kyphosis. This patient is most likely to have which of the following findings on physical exam?

Continuous, flow murmur best heard in the interscapular region

16%

6/37

Continuous, machine-like murmur best heard in the left subclavicular region

54%

20/37

Holosystolic, harsh-sounding murmur best heard at the left lower sternal border

5%

2/37

Late systolic, crescendo murmur at the apex with mid-systolic click

5%

2/37

Systolic ejection murmur best heard at the left upper sternal border

19%

7/37

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This patient presents with short stature, hypertension, and the physical exam findings of a broad chest, short 4th metacarpals, and kyphosis, which is consistent with a diagnosis of Turner syndrome. Turner syndrome is associated with coarctation of the aorta, which causes a continuous flow murmur best heard in the interscapular region.

Turner syndrome (45, XO) classically presents with short stature, increased upper-to-lower segment ratio, webbed neck, broad chest with widely spaced nipples, and kyphosis or scoliosis. Patients are also at risk for cardiac malformations such as coarctation of the aorta and a bicuspid aortic valve. Coarctation of the aorta leads to hypertension of the upper extremities with hypotension of the lower extremities, weak or delayed distal pulses, and symptoms related to poor perfusion such as peripheral claudication. Coarctation typically presents on a cardiac exam as a continuous flow murmur best heard over the upper back, which is caused by flow through the collateral circulation in the intercostal vessels.

Morgan reviews the evidence regarding the diagnosis and symptoms associated with Turner syndrome. He discusses how this disease is often associated with congenital heart defects such as coarctation of the aorta. He recommends considering this diagnosis in patients with short stature and primary amenorrhea.

Incorrect Answers:
Answer 2: A continuous, machine-like murmur best heard in the left subclavicular region reflects patent ductus arteriosus (PDA). PDA is most commonly found in premature infants, although it may also coexist with other congenital cardiac abnormalities. Treatment of a PDA includes medications such as indomethacin as well as surgical interventions such as catheterization.

Answer 3: A holosystolic, harsh-sounding murmur at the left lower sternal border reflects a ventricular septal defect (VSD). VSD is most commonly associated with Down syndrome (trisomy 21), which presents with the dysmorphic features of upslanting palpebral fissures, epicanthal folds, a flat nasal bridge, and a single transverse palmar crease. Treatment with surgical correction of the defect is required in symptomatic cases.

Answer 4: A late systolic crescendo murmur at the apex with mid-systolic click would suggest mitral valve prolapse, which is associated with Marfan syndrome. Marfan syndrome presents with physical exam findings of tall stature, arachnodactyly, pectus excavatum, and hypermobile joints. Treatment is with valve repair or reconstruction in patients with symptomatic regurgitation.

Answer 5: A systolic ejection murmur best heard at the left upper sternal border indicates an atrial septal defect (ASD). ASD is commonly found in Down syndrome (trisomy 21) and also causes fixed splitting of the 2nd heart sound. Asymptomatic patients may not require any treatment but symptomatic patients can have surgical repair of the defective valve.

Bullet Summary:
Turner syndrome (45, XO) is frequently associated with coarctation of the aorta, which causes a continuous, flow murmur best heard over the interscapular region due to collateral circulation.

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