Related Experiment Video

Updated: May 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

3.3K

Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy

Marco Merlo1, Gianfranco Sinagra, Elisa Carniel

  • 1Cardiovascular Institute and Adult Medical Genetics, University of Colorado, Aurora, Colorado, USA; Cardiovascular Department "Ospedali Riuniti,"and University of Trieste, Trieste, Italy.

Clinical and Translational Science
|October 15, 2013
PubMed

Insights

Rare sarcomeric gene variants in dilated cardiomyopathy (DCM) patients indicate a poorer prognosis after age 50. Genetic testing in DCM aids in risk stratification for better patient outcomes.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Epidemiology

Background:

  • Dilated cardiomyopathy (DCM) prognosis is unclear for rare sarcomeric gene variants.
  • Understanding these variants is crucial for clinical management and risk stratification.

Purpose of the Study:

  • To investigate the clinical and prognostic impact of rare sarcomeric gene variants in DCM patients.
  • To compare long-term survival outcomes between DCM patients with and without these variants.

Main Methods:

  • Identified DCM families with rare sarcomeric variants in MYH6, MYH7, MYBPC3, TNNT2, and TTN.
  • Performed genotype-phenotype association analysis.
  • Compared long-term survival free from death or heart transplant between carriers and noncarriers.

Main Results:

  • Identified 24 rare variants in 52 subjects across 25 families.
  • Variant carriers exhibited severe phenotypes, including sudden death, heart failure, and heart transplants.
  • No overall survival difference was observed between carriers and noncarriers (p=0.322).
  • However, carriers showed a decreased combined endpoint of death or transplant after age 50 (p=0.026).

Conclusions:

  • DCM patients with rare sarcomeric gene variants have a poorer prognosis post-50 years of age.
  • These findings underscore the importance of genetic testing for DCM risk stratification.
  • Genetic insights can guide personalized treatment strategies for dilated cardiomyopathy.
Abstract

Keywords:
cardiomyopathygenesgeneticsmolecular geneticsphenotypingprognosis

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

36.1K
A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish08:09

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish

Published on: June 7, 2018

9.2K

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...
812
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,...
802
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...
837
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
762
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...
968
Imbalances in Cardiac Output01:26

Imbalances in Cardiac Output

The heart's primary function is to pump blood throughout the body, maintaining a balance between blood sent out (cardiac output) and blood returning (venous return). If this balance is disrupted, it can result in congestive heart failure (CHF), a severe condition where the heart becomes an inefficient pump, leading to inadequate blood circulation.
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send...
3.3K