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CASE REPORT article

Front. Transplant.
Sec. Thoracic Transplantation
Volume 3 - 2024 | doi: 10.3389/frtra.2024.1431851
This article is part of the Research Topic Women in Thoracic Transplantation View all 4 articles

Case Report: Filamin C Gene Mutation Associated with Restrictive Cardiomyopathy Leading to Heart Transplantation

Provisionally accepted
Ludmila De Oliveira Sales Ludmila De Oliveira Sales Paulo Sampaio Gutierrez Paulo Sampaio Gutierrez Adailson Wagner Siqueira Adailson Wagner Siqueira Marcelo Biscegli Jatene Marcelo Biscegli Jatene Estela Azeka Estela Azeka *
  • Heart Institute, Clinical Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil

The final, formatted version of the article will be published soon.

    Background: Cardiomyopathy is a disease that affects the myocardium, which 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 gene. Filamin C is an actin-binding protein encoded by filamin C (FLNC) gene and participates in sarcomere stability maintenance, that is expressed on striated muscle. FLNC variants have been associated with restrictive cardiomyopathy (RCM) and noncompaction (NCCM) cardio-myopathies. 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 anatomopathological study and genetic tests.Methods / Results: The purpose of this study is to report a patient who had restrictive cardiomyopathy due to mutation on Filamin C gene and was indicated for heart transplantation.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.

    Keywords: Restrictive cardiomyopathy, Desmin, Filamin C, Heart Transplantation, Heart failiure

    Received: 13 May 2024; Accepted: 13 Nov 2024.

    Copyright: © 2024 Sales, Gutierrez, Siqueira, Jatene and Azeka. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Estela Azeka, Heart Institute, Clinical Hospital, Faculty of Medicine, University of São Paulo, São Paulo, Brazil

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