Question
20 year old athlete died during practice session and attending doctor declared him dead on arrival. His gross specimen is shown below. What is the plausible cause and advise to family?
| A. |
Cardiac arrest check cholesterol in family members
|
| B. |
Cardiac arrest due to hypertrophic cardiomyopathy, screen family members
|
| C. |
Cardiac arrest due to valvular heart disease
|
| D. |
Cardiac arrest due to arrhythmias and heart block
|
Show Answer
|
Correct Answer � B
Explanation
|
|
Image Clue:
– Heart shows asymmetric septal hypertrophy, classic for hypertrophic cardiomyopathy (HCM).
Clinical Clue:
– Young athlete collapsing during exertion is a red flag for sudden cardiac death (SCD).
– HCM is a leading cause of SCD in young athletes during physical activity.
Hypertrophic Cardiomyopathy (HCM) Key Facts:
– Autosomal dominant genetic disease (sarcomeric protein mutations, e.g., beta-myosin heavy chain).
– Features: asymmetric septal hypertrophy, diastolic dysfunction, ventricular arrhythmias.
– Symptoms may be absent or include syncope, dyspnea, palpitations, sudden death (often first sign).
Why Family Screening is Advised:
– HCM is familial; all first-degree relatives should have:
– Echocardiography
– ECG
– Genetic counseling/testing
Why Other Options Are Incorrect:
– A. Cholesterol screening: relevant to coronary artery disease, uncommon in young without risk factors.
– C. Valvular disease: presents with murmur & progressive symptoms, not sudden arrest in young.
– D. Arrhythmias/heart block: arrhythmias in HCM stem from structural hypertrophy, not primary electrical disease.
