A 22-Year-Old Man Who Lost Consciousness Climbing Stairs

Andres Applewhite, MD

Disclosures

August 20, 2019

Editor's Note:
The Case Challenge series includes difficult-to-diagnose conditions, some of which are not frequently encountered by most clinicians but are nonetheless important to accurately recognize. Test your diagnostic and treatment skills using the following patient scenario and corresponding questions. If you have a case that you would like to suggest for a future Case Challenge, please contact us.

Background

The patient is a 22-year-old white man who presents after he lost consciousness while climbing a flight of stairs. He states that this is the first such incident. He also states that he does not take any supplements, medications, or illicit drugs. He is a nonsmoker. He claims that his alcohol intake is infrequent, minimal, and limited to social events. He has not had any recent travel, illness, or sick contacts. His family history is only significant for type 1 diabetes in his maternal grandfather.

Physical Examination and Workup

Upon physical examination, the patient has a temperature of 99.5° F (37.5° C). His blood pressure is 115/75 mm Hg, his respiratory rate is 17 breaths/min (with a pulse oximetry of 95% on room air), and his heart rate is 85 beats/min. Examination also reveals a parasternal heave, a pansystolic murmur that is loudest at the left lower sternal edge, and an accompanying thrill in the suprasternal region. His weight is 151.7 lb (68.8 kg), and his height is 5' 7" (1.7 m).

An examination of his neck, lungs, and abdomen is unremarkable. Severe clubbing of his fingers is noted. Muscle strength is 5/5, and reflexes are 2+ throughout. No peripheral edema or jugular venous distention is appreciated. Peripheral pulses are palpable. Finger-to-nose test results are normal. Romberg sign is negative. His gait is normal. Neurological examination is unremarkable. He is calm, cooperative, and in no discomfort.

Electrocardiography reveals sinus rhythm, right axis deviation, and evidence of right ventricular hypertrophy with secondary ST-T wave abnormalities. Chest radiography is suggestive of right ventricular hypertrophy.

Transthoracic echocardiography reveals a hypokinetic, small-volume left ventricle with an ejection fraction of 40%. It also reveals a hypertrophied septal wall, a membranous ventricular septal defect with a right-to-left shunt, a hypokinetic and severely enlarged right ventricle, dilated right atrium, and subvalvular right ventricular outflow tract obstruction.

His complete blood cell count, basic metabolic panel, arterial gas, and cardiac enzyme findings are within the reference range, other than a hematocrit level of 56.8% and lactate levels of 3.4 mmol/L.

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