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

Ludmila De Oliveira Jaime Sales1, Paulo Sampaio Gutierrez1, Adailson Wagner D Siqueira1

  • 1Pediatric Cardiology and Adult with Congenital Heart Disease Unit, Instituto do Coração (InCor) do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Frontiers in Transplantation
|January 7, 2025
PubMed

Insights

Restrictive cardiomyopathy, a rare condition, can be caused by mutations in the Filamin C (FLNC) gene. Understanding FLNC gene mutations is crucial for diagnosing and managing this heart muscle disease.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Cardiomyopathy encompasses dilated, restrictive, and hypertrophic types, affecting the heart muscle.
  • Restrictive cardiomyopathy, characterized by impaired ventricular filling, has rare causes including Filamin C (FLNC) gene mutations.
  • Filamin C, an actin-binding protein, is vital for sarcomere stability in striated muscle and its variants are linked to various cardiomyopathies.
Abstract

Keywords:
Filamin Cdesminheart failureheart transplantationrestrictive cardiomyopathy

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