# Lamin AC Cardiomyopathy, the Next Masquerader: Laminopathy Mimicking Cardiac Sarcoidosis

**Authors:** Hanad Bashir, Cassady Palmer, Abhimanyu Reddy, Wojciech Mazur, Thomas OBrien

PMC · DOI: 10.7759/cureus.80563 · Cureus · 2025-03-14

## TL;DR

This paper discusses the challenges in distinguishing lamin AC cardiomyopathy from cardiac sarcoidosis due to their similar symptoms and emphasizes the importance of genetic testing for accurate diagnosis.

## Contribution

The paper highlights the diagnostic challenges and advocates for early genetic testing in cases of cardiomyopathy.

## Key findings

- Lamin AC-DCM and cardiac sarcoidosis share similar clinical features, complicating diagnosis.
- Genetic testing is crucial for accurate diagnosis when clinical and imaging findings are ambiguous.
- Early integration of genetic testing can improve outcomes for patients with these conditions.

## Abstract

Phenotypic expression of lamin AC-dilated cardiomyopathy (LMNA-DCM) and cardiac sarcoidosis (CS) at times presents with similar clinical findings, including arrhythmia, conduction abnormalities, and heart failure. Lamin AC-dilated cardiomyopathy is one of the most common causes of genetic DCM with an autosomal dominant inheritance pattern. Contrastingly, a smaller proportion of sarcoid cases present with isolated cardiac involvement, highlighting the intricate nature of this systemic disease. This paper presents three cases highlighting potential pitfalls in the clinical diagnosis and management of laminopathies. Also highlighted is the need for extreme caution when endomyocardial biopsies are equivocal and there is sole reliance on cardiac imaging to establish diagnostic criteria. In addition, this case series highlights the imperative role of genetic testing during the initial workup for establishing the accurate etiology in the setting of cardiomyopathy. The strikingly similar clinical characteristics of LMNA-DCM and CS underscore the necessity for a robust diagnostic approach, including early integration of genetic testing, as this approach holds great promise for improving outcomes and the quality of life for those grappling with these challenging cardiac conditions. Innovative strategies, including comprehensive advanced imaging protocols and precision medicine, promise to advance our comprehension and management of both disease entities.

## Linked entities

- **Genes:** LMNA (lamin A/C) [NCBI Gene 4000]
- **Diseases:** cardiac sarcoidosis (MONDO:0001707), heart failure (MONDO:0005252)

## Full-text entities

- **Diseases:** CS (MESH:D012507), heart failure (MESH:D006333), arrhythmia (MESH:D001145), Cardiomyopathy (MESH:D009202), disease (MESH:D004194), involvement (MESH:C564676), cardiac conditions (MESH:D006331), Laminopathy (MESH:D000083083), conduction abnormalities (MESH:D054537)

## Full text

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## Figures

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## References

10 references — full list in the complete paper: https://tomesphere.com/paper/PMC11994089/full.md

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Source: https://tomesphere.com/paper/PMC11994089