Haemodynamics: pulmonary hypertension: 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 · Haemodynamics: pulmonary hypertension

Sample item

A 28-year-old woman has progressive exertional dyspnoea, a loud pulmonary second sound and right ventricular hypertrophy. Her mother died of a similar illness. Lung biopsy shows concentric intimal fibrosis of small arteries with plexiform lesions. Which gene is most commonly mutated in the heritable form of this condition?

ATGFBR2BSERPINA1CBMPR2DCFTR

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

The answer and the reasoning

C. BMPR2

Heritable pulmonary arterial hypertension is most often due to loss-of-function mutations in BMPR2, a TGF-beta superfamily receptor, with incomplete penetrance. Pathology shows medial hypertrophy, intimal fibrosis and plexiform lesions, with right ventricular hypertrophy.

Option by option

A. TGFBR2
TGFBR2 mutations cause Loeys-Dietz syndrome with aortic aneurysm, not familial pulmonary hypertension.
B. SERPINA1
SERPINA1 mutations cause alpha-1 antitrypsin deficiency with panacinar emphysema and liver disease.
C. BMPR2 (correct)
Correct. BMPR2 mutations account for most familial pulmonary arterial hypertension.
D. CFTR
CFTR mutations cause cystic fibrosis, with bronchiectasis rather than isolated pulmonary arteriopathy.

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 C, BMPR2. Heritable pulmonary arterial hypertension is most often due to loss-of-function mutations in BMPR2, a TGF-beta superfamily receptor, with incomplete penetrance.

Why is "TGFBR2" not the answer?

TGFBR2 mutations cause Loeys-Dietz syndrome with aortic aneurysm, not familial pulmonary hypertension.

Why is "SERPINA1" not the answer?

SERPINA1 mutations cause alpha-1 antitrypsin deficiency with panacinar emphysema and liver disease.

Why is "CFTR" not the answer?

CFTR mutations cause cystic fibrosis, with bronchiectasis rather than isolated pulmonary arteriopathy.

What concept does this question test?

It tests Haemodynamics: pulmonary hypertension in Pathology. Pathology shows medial hypertrophy, intimal fibrosis and plexiform lesions, with right ventricular hypertrophy.

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 Haemodynamics: pulmonary hypertension?

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.