Related Experiment Video

Updated: Jan 7, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.1K

Genetic and Clinical Characterization of FLNC Variants in Chinese Patients with Cardiomyopathy

Guofeng Xing1, Li Chen2, Lizhi Lv1

  • 1Department of Pediatric Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, No.2 Anzhen Street, Chaoyang District, Beijing 100029, China.

Journal of Cardiovascular Development and Disease
|December 24, 2025
PubMed

Insights

Filamin C (FLNC) mutations are linked to inherited cardiomyopathies in Chinese patients. These mutations, particularly nonsense variants, correlate with severe heart conditions and poorer prognosis, emphasizing FLNC

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Basis of Heart Disease

Background:

  • Inherited cardiomyopathies are significant causes of heart failure.
  • Filamin C (FLNC) mutations are implicated in myofibrillar myopathy and dilated cardiomyopathy (DCM).
  • Missense FLNC variants are associated with hypertrophic cardiomyopathy (HCM) and protein aggregation.

Purpose of the Study:

  • To investigate the spectrum of FLNC mutations in Chinese cardiomyopathy patients.
  • To correlate FLNC mutation types with clinical phenotypes and outcomes.
  • To understand the genetic basis of inherited cardiomyopathies in this population.

Main Methods:

  • Whole-exome sequencing (WES) was performed on 25 Chinese cardiomyopathy patients.
  • Variants were classified using American College of Medical Genetics and Genomics (ACMG) guidelines.
  • Clinical data, including echocardiography and follow-up, were analyzed using SPSS.

Main Results:

  • Twenty-five FLNC mutations were identified, including pathogenic, likely pathogenic, and variants of uncertain significance (VUS).
  • Diagnoses included dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), and left ventricular non-compaction.
  • Nonsense FLNC mutations were associated with higher tricuspid regurgitation prevalence and reduced left ventricular ejection fraction (LVEF).
  • Frameshift mutations co-segregated with familial DCM and severe phenotypes, including sudden cardiac death.

Conclusions:

  • FLNC mutations are a significant genetic cause of cardiomyopathies in the studied Chinese cohort.
  • Specific FLNC mutation types correlate with distinct clinical presentations and disease severity.
  • Genetic screening for FLNC mutations is crucial for diagnosing and managing inherited cardiomyopathies.

Keywords:
FLNCcardiomyopathiesfilamins

More Related Videos

Improved Generation of Induced Cardiomyocytes Using a Polycistronic Construct Expressing Optimal Ratio of Gata4, Mef2c and Tbx510:05

Improved Generation of Induced Cardiomyocytes Using a Polycistronic Construct Expressing Optimal Ratio of Gata4, Mef2c and Tbx5

Published on: November 13, 2015

9.1K
Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes11:33

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

Published on: March 12, 2013

13.7K

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
360
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
471
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
422
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.8K
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
431