Heritable Pulmonary Arterial Hypertension in a Patient With Empty Sella Syndrome: A Case Report

TL;DR

A 32-year-old woman with a rare case of heritable pulmonary arterial hypertension and empty sella syndrome is reported.

Contribution

This case highlights a rare non-BMPR2 mutation heritable PAH associated with empty sella syndrome and panhypopituitarism.

Findings

The patient had heritable PAH without a BMPR2 mutation.

The case was complicated by empty sella syndrome and panhypopituitarism.

It suggests a potential link between endocrine disorders and PAH.

Abstract

Pulmonary arterial hypertension (PAH) is a progressive disease with multiple contributing factors. Genetics, epigenetics, hormonal, and immune factors all contribute to the development and progression of the disease. A number of endocrine disorders and metabolic syndromes are being studied for their potential role in the development of PAH. We report to you a case of a 32-year-old female with a rare presentation of a non-BMPR2 mutation heritable PAH complicated with empty sella syndrome and panhypopituitarism.

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