Related Experiment Video

Updated: Mar 10, 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

4.3K

Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy

Xueqi Dong1, Peng Fan1, Tao Tian1

  • 1Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing 100037, China.

Clinica Chimica Acta; International Journal of Clinical Chemistry
|December 20, 2016
PubMed

Insights

Left ventricular noncompaction cardiomyopathy (LVNC) is a rare heart muscle disease. This review covers gene mutations linked to LVNC and discusses recent genetic research into its causes.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Left ventricular noncompaction cardiomyopathy (LVNC) is a myocardial disorder.
  • Characterized by excessive trabeculations and deep recesses in the ventricular wall.
  • Clinical presentations vary widely, from asymptomatic cases to severe heart failure, arrhythmias, thromboembolism, and sudden cardiac death.

Purpose of the Study:

  • To review identified gene mutations in LVNC patients.
  • To summarize recent advancements in molecular genetic analysis of LVNC.
  • To explore potential shared pathways in LVNC pathogenesis.

Main Methods:

  • Literature review of genetic studies in LVNC.
  • Analysis of candidate gene mutations in human patients and animal models.
  • Synthesis of current knowledge on molecular mechanisms.

Main Results:

  • LVNC is a heterogenetic disease with autosomal, X-linked, and mitochondrial inheritance patterns.
  • Numerous candidate gene mutations have been identified in LVNC.
  • The precise molecular mechanisms underlying LVNC pathogenesis remain largely unknown.

Conclusions:

  • Genetic factors play a significant role in LVNC development.
  • Further research into molecular genetics is crucial for understanding LVNC pathogenesis.
  • Identifying shared pathways may lead to novel therapeutic strategies.

Keywords:
Gene mutationsGeneticsLeft ventricular noncompactionNoncompaction cardiomyopathy

More Related Videos

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

6.3K
Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia09:36

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia

Published on: December 22, 2023

1.9K

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...
602
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...
741
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,...
695
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...
702
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...
566