Cardiovascular: hypertrophic cardiomyopathy: practice question

A Pathology question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

Try it

Pathology · Cardiovascular: hypertrophic cardiomyopathy

Sample item

A 19-year-old footballer collapses and dies during a match. His father had died suddenly at 40. Autopsy shows a heavy heart with asymmetric septal hypertrophy and a small left ventricular cavity, and histology shows disorganised, interweaving hypertrophied myocytes. What is the usual genetic basis of this condition?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

A. Autosomal dominant mutation of a sarcomeric protein such as beta-myosin heavy chain

Hypertrophic cardiomyopathy is usually autosomal dominant and caused by mutations in genes for sarcomeric proteins, most often beta-myosin heavy chain and myosin-binding protein C. Myocyte disarray, interstitial fibrosis and small-vessel disease predispose to arrhythmia and sudden death in young athletes. The septum is disproportionately thick and may obstruct the outflow tract.

Option by option

  • A. Autosomal dominant mutation of a sarcomeric protein such as beta-myosin heavy chain (correct)

    Correct. Sarcomere gene mutation with dominant inheritance explains familial hypertrophic cardiomyopathy.

  • B. Mutation of the dystrophin gene on the X chromosome

    Dystrophin mutations cause Duchenne dystrophy with dilated cardiomyopathy, not myocyte disarray.

  • C. Mutation of desmosomal proteins such as plakoglobin

    Desmosomal mutations cause arrhythmogenic right ventricular cardiomyopathy with fibrofatty replacement of the right ventricle.

  • D. GAA repeat expansion of the frataxin gene

    Frataxin repeat expansion causes Friedreich ataxia, which has ataxia and a hypertrophic heart but is recessive and neurological.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

More Pathology questions

Questions about this Pathology question

What is the answer to this Pathology question?

The best answer is A, Autosomal dominant mutation of a sarcomeric protein such as beta-myosin heavy chain. Hypertrophic cardiomyopathy is usually autosomal dominant and caused by mutations in genes for sarcomeric proteins, most often beta-myosin heavy chain and myosin-binding protein C.

Why is "Mutation of the dystrophin gene on the X chromosome" not the answer?

Dystrophin mutations cause Duchenne dystrophy with dilated cardiomyopathy, not myocyte disarray.

Why is "Mutation of desmosomal proteins such as plakoglobin" not the answer?

Desmosomal mutations cause arrhythmogenic right ventricular cardiomyopathy with fibrofatty replacement of the right ventricle.

Why is "GAA repeat expansion of the frataxin gene" not the answer?

Frataxin repeat expansion causes Friedreich ataxia, which has ataxia and a hypertrophic heart but is recessive and neurological.

What concept does this question test?

It tests Cardiovascular: hypertrophic cardiomyopathy in Pathology. Myocyte disarray, interstitial fibrosis and small-vessel disease predispose to arrhythmia and sudden death in young athletes. The septum is disproportionately thick and may obstruct the outflow tract.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Cardiovascular: hypertrophic cardiomyopathy?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.