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

**Authors:** Bader Alghamdi, Shahad Aljuhani, Ghaday Alansari, Nouf M BinHumaid, Abdulkareem Alkahtani

PMC · DOI: 10.7759/cureus.54632 · 2024-02-21

## 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.

## Key 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.

## Linked entities

- **Diseases:** pulmonary arterial hypertension (MONDO:0015924), empty sella syndrome (MONDO:0006740), panhypopituitarism (MONDO:0019591)

## Full-text entities

- **Genes:** BMPR2 (bone morphogenetic protein receptor type 2) [NCBI Gene 659] {aka BMPR-II, BMPR3, BMR2, BRK-3, POVD1, PPH1}
- **Diseases:** PAH (MESH:D000081029), panhypopituitarism (MESH:C563172), metabolic syndromes (MESH:D024821), Empty Sella Syndrome (MESH:D004652), endocrine disorders (MESH:D004700)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC10959505/full.md

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Source: https://tomesphere.com/paper/PMC10959505