Pulmonary Alveolar Microlithiasis Coexisting With Rheumatic Heart Disease and Severe Pulmonary Hypertension: A Case Report

TL;DR

A rare case of lung disease with calcium deposits coexisting with heart disease and severe lung hypertension is reported, emphasizing the need for broad diagnostic thinking.

Contribution

This case report highlights the rare coexistence of PAM, rheumatic heart disease, and severe pulmonary hypertension, emphasizing dual pathology in complex patients.

Findings

PAM was diagnosed alongside rheumatic mitral stenosis and severe pulmonary hypertension in a 63-year-old patient.

The SLC34A2 gene mutation was identified, supporting the diagnosis of PAM.

The case underscores the importance of considering multiple pathologies in complex cardiopulmonary presentations.

Abstract

Pulmonary Alveolar Microlithiasis (PAM) is a rare diffuse lung disease characterized by intra-alveolar calcium phosphate microlith accumulation. Its coexistence with rheumatic valvular heart disease with resultant severe pulmonary hypertension is exceedingly uncommon and poses unique diagnostic and management challenges. This case underscores the importance of maintaining a broad differential diagnosis, emphasizing that new or worsening respiratory symptoms in patients with established cardiac disease should not be automatically attributed to cardiac pathology alone.

We report the case of a 63-year-old gentleman with longstanding rheumatic heart disease (RHD) who presented with progressive dyspnoea. Clinical evaluation revealed features suggestive of severe pulmonary hypertension. Investigations confirmed PAM with characteristic “sandstorm” calcifications on chest imaging, supported by bronchoalveolar lavage demonstrating calcospherites and identification of an SLC34A2 gene mutation, alongside rheumatic mitral stenosis. The patient’s pulmonary hypertension was attributed to a combination of PAM and RHD.

This case illustrates a rare combination of PAM with RHD and severe pulmonary hypertension. It underlines the importance of considering dual pathology in patients with complex cardiopulmonary presentations. Early recognition of PAM, even in the presence of another disease like RHD, is crucial for appropriate management and prognostication. This report adds to the limited literature on such coexistence and highlights the need for multidisciplinary care in these patients.

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