Work

Case Report: Filamin C gene mutation associated with restrictive cardiomyopathy leading to heart transplantation

Year: 2024

Type: article

Abstract: Background: Cardiomyopathy is a disease that affects the myocardium and can be classified as dilated, restrictive, or hypertrophic cardiomyopathy. Among the subtypes, restrictive cardiomyopathy is characterized by restriction of ventricular filling and its uncommon cause is a disease due to mutation on Filamin C (FLNC) gene. Filamin C is an actin-binding protein encoded by FLNC gene and participates in sarcomere stability maintenance, which is expressed on the striated muscle. FLNC variants have been associated with restrictive cardiomyopathy and non-compaction cardiomyopathies. The association of FLNC with a broad spectrum of cardiac phenotypes shows an important gap in knowledge. Therefore, a wide investigation is necessary to diagnose this pathology, including an anatomopathological study and genetic tests. Methods/results: The purpose of this study is to report about a patient who had restrictive cardiomyopathy due to mutation on Filamin C gene and was indicated for heart transplantation. Conclusion: The etiology of cardiomyopathy is important for the clinical management of the patient and also for guiding families regarding genetic counseling and prevention of new cases in the family.

Source: Frontiers in Transplantation

DOI: 10.3389/frtra.2024.1431851

Authors: Ludmila De Oliveira Jaime Sales, Paulo Sampaio Gutierrez, Adailson Wagner D. Siqueira, Marcelo Biscegli Jatene, Estela Azeka

Institutions: Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Instituto do Coração - HCFMUSP

Language: English

Topic: Cardiomyopathy and Myosin Studies

Subfield: Cardiology and Cardiovascular Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,125