Critical Care Medicine-Neurologic Disorders>>>>>Congenital Heart Disease in Adults
Question 5#

A 23-year-old male presents to the emergency department after collapsing during a pick-up basketball game. On examination you find a young male in no apparent distress. He exhibits a harsh, systolic crescendo-decrescendo murmur. His EKG is an unremarkable save for short, sharp Q-waves in the lateral leads.

Which of the following is most strongly associated with this diagnosis?

a. Family history
b. Smoking
c. Drug use
d. Alcohol use

Correct Answer is A

Comment:

Correct Answer: A

This patient’s history strongly suggests hypertrophic obstructive cardiomyopathy (HOCM). Of the listed options, family history has the strongest risk association with sudden death from HOCM. HOCM is an autosomal dominant genetic disorder that affects the beta-myosin chains leading to asymmetric septal wall hypertrophy. This leads to a leftventricular outflow obstruction and the subsequent symptoms. Symptoms are typically effort related, including exertional angina, dyspnea, syncope, and sudden death. Heart failure can develop over time because of stiffening of the left ventricle and development of left-ventricular hypertrophy. EKG findings include LVH as well as a “pseudo infarction pattern” evidenced by “dagger-like” Q waves in the lateral or inferior leads. These pathognomonic findings are not associated with smoking, drugs, or alcohol use (B, C, and D). Treatment includes beta-blockers or calcium channel blockers, surgical myectomy, or cardiac ablation of portions of the septum. 

References:

  1. Colledge NR, Walker BR, Ralston S, Davidson S. Davidson’s Principles and Practice of Medicine. Edinburgh: Churchill Livingstone/Elsevier; 2010.
  2. Gersh BJ, Maron BJ, Bonow RO, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2011;124:2761.
  3. Faber L. Percutaneous septal ablation in hypertrophic obstructive cardiomyopathy: from experiment to standard of care. Adv Med. 2014;2014:464851. doi:10.1155/2014/464851.