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Hypertrophic Cardiomyopathy 1

Hypertrophic cardiomyopathy
pathology

Question

Vignette: A 45-year-old woman presents to her primary care physician with increasing fatigue, occasional palpitations, and shortness of breath for the past 3 months. She has no significant past medical history. On physical examination, her blood pressure is 110/70 mmHg, pulse rate is 72 beats/min, and respirations are 18 breaths/min. Auscultation of her heart reveals a harsh systolic ejection murmur heard best at the second right intercostal space that increases with standing and the Valsalva maneuver. An EKG is performed which shows a normal sinus rhythm. The physician orders an echocardiogram which shows left ventricular hypertrophy and asymmetrical septal hypertrophy. Which of the following is the most likely diagnosis?

Choices

A. Hypertrophic cardiomyopathy

B. Dilated cardiomyopathy

C. Restrictive cardiomyopathy

D. Mitral valve prolapse

E. Aortic stenosis

Answer

A. Hypertrophic cardiomyopathy

Explanation

The patient's presentation of fatigue, palpitations, shortness of breath, and the physical examination findings of a harsh systolic ejection murmur that increases with standing and the Valsalva maneuver, along with the echocardiogram findings of left ventricular hypertrophy and asymmetrical septal hypertrophy, are suggestive of hypertrophic cardiomyopathy (HCM). HCM is a genetic disorder characterized by left ventricular hypertrophy, particularly of the interventricular septum, in the absence of another cardiac or systemic disease that could cause the hypertrophy (e.g., hypertension, aortic stenosis). The murmur in HCM is due to left ventricular outflow tract obstruction and mitral regurgitation. The increase in murmur with standing and the Valsalva maneuver is due to the decrease in left ventricular size, which exacerbates the outflow obstruction.

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