A 58-year-old man presented to the outpatient clinic for a general medical examination. He reported that he lived a healthy lifestyle and ran 5 mile/d without any symptoms. He had no known medical history and did not take any regular medications. His family history was notable for maternal death from heart failure of an undifferentiated cardiomyopathy at age 73 and a brother requiring coronary artery bypass graft surgery at age 50.
Clinical and laboratory examination
Physical examination revealed blood pressure of 132/61 mm Hg and a pulse of 77 beats/min. Cardiovascular examination revealed regular rate and rhythm with no apparent murmur. When palpating the chest, a hyperdynamic precordium was appreciated. There was no jugular venous distention or lower extremity edema. The remainder of his examination and basic laboratory assessment was normal. Electrocardiography (ECG) indicated left ventricular (LV) hypertrophy (sum of the S wave in lead V1 and the R wave in lead V5, >35 mm).
Because of his ECG findings, screening transthoracic echocardiography was performed, which revealed a normal LV chamber size, a left ventricular ejection fraction (LVEF) of 72%, asymmetric septal hypertrophy with a maximum thickness of 20 mm, no resting or provocable LV outflow tract obstruction, and bileaflet mitral valve prolapse with systolic anterior motion of the mitral valve chordae.
On the basis of the patient's cardiovascular testing results, which one of the following is the most likely diagnosis?
a. Left ventricular hypertrophy secondary to chronic
b. Fabry disease (α-galactosidase A deficiency)
c. Hypertrophic cardiomyopathy (HCM)
d. Athlete's heart
e. Cardiac amyloidosis
Answer to be disclosed shortly!
Source: Mayo clinic