Systemic pathology: cardiovascular, respiratory, GI, renal, endocrine, CNS, bone and soft tissue: 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.

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Pathology · Systemic pathology: cardiovascular, respiratory, GI, renal, endocrine, CNS, bone and soft tissue: cardiomyopathy

Sample item

A 17-year-old athlete dies suddenly during exertion. Autopsy shows an asymmetrically thickened septum with myocyte disarray and interstitial fibrosis. Which gene group is most often mutated?

ASarcomeric proteins such as beta-myosin heavy chainBTitin truncation onlyCDystrophinDDesmosomal proteins

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

The answer and the reasoning

A. Sarcomeric proteins such as beta-myosin heavy chain

Hypertrophic cardiomyopathy is an autosomal dominant disease usually of sarcomeric genes, especially beta-myosin heavy chain and myosin-binding protein C. Disarray of myocytes underlies arrhythmia.

Option by option

A. Sarcomeric proteins such as beta-myosin heavy chain (correct)
Correct. Sarcomere gene mutations, as of beta-myosin heavy chain, cause hypertrophic cardiomyopathy.
B. Titin truncation only
Titin truncation is a common cause of dilated, not hypertrophic, cardiomyopathy.
C. Dystrophin
Dystrophin defects cause Duchenne muscular dystrophy and an X-linked dilated cardiomyopathy.
D. Desmosomal proteins
Desmosomal mutations cause arrhythmogenic right ventricular cardiomyopathy with fatty replacement.

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.

Questions about this Pathology question

What is the answer to this Pathology question?

The best answer is A, Sarcomeric proteins such as beta-myosin heavy chain. Hypertrophic cardiomyopathy is an autosomal dominant disease usually of sarcomeric genes, especially beta-myosin heavy chain and myosin-binding protein C.

Why is "Titin truncation only" not the answer?

Titin truncation is a common cause of dilated, not hypertrophic, cardiomyopathy.

Why is "Dystrophin" not the answer?

Dystrophin defects cause Duchenne muscular dystrophy and an X-linked dilated cardiomyopathy.

Why is "Desmosomal proteins" not the answer?

Desmosomal mutations cause arrhythmogenic right ventricular cardiomyopathy with fatty replacement.

What concept does this question test?

It tests Systemic pathology: cardiovascular, respiratory, GI, renal, endocrine, CNS, bone and soft tissue: cardiomyopathy in Pathology. Disarray of myocytes underlies arrhythmia.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. 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 Systemic pathology: cardiovascular, respiratory, GI, renal, endocrine, CNS, bone and soft tissue: 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.