Lamin AC Cardiomyopathy, the Next Masquerader: Laminopathy Mimicking Cardiac Sarcoidosis
Year: 2025
Type: article
Study design: Case Report
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.
Source: Cureus
DOI: 10.7759/cureus.80563
Authors: Hanad Bashir, Cassady Palmer, Abhimanyu Reddy, Wojciech Mazur, Thomas OBrien
Institution: Christ Hospital
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4408470813