Related Experiment Video

Updated: Jan 31, 2026

Evaluation of Left Ventricular Structure and Function using 3D Echocardiography
06:34

Evaluation of Left Ventricular Structure and Function using 3D Echocardiography

Published on: October 28, 2020

4.7K

Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy

Job A J Verdonschot1,2, Mark R Hazebroek1, Ping Wang2

  • 1Department of Cardiology, Maastricht University Medical Centre, the Netherlands (J.A.J.V., M.R.H., S.S.-v.W., J.J.M., H.-P.B.-L.R., S.R.B.H.).

Circulation. Heart Failure
|December 21, 2018
PubMed

Insights

Genetic mutations in dilated cardiomyopathy (DCM) impact left ventricular reverse remodeling (LVRR) rates and long-term outcomes. Identifying these genetic factors improves prediction of LVRR and patient prognosis.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Left ventricular reverse remodeling (LVRR) is a key treatment goal for dilated cardiomyopathy (DCM) and hypokinetic non-DCM (HNDC).
  • Genetic mutations associated with DCM may influence LVRR independently of clinical factors.

Purpose of the Study:

  • To investigate the impact of genetic DCM mutations on LVRR.
  • To determine if genetic factors improve the prediction of LVRR beyond clinical parameters.

Main Methods:

  • Genotyping of 47 DCM-associated genes in 346 DCM/HNDC patients.
  • Phenotyping and assessment of LVRR based on ejection fraction and cardiac dimensions.
  • Statistical analysis to identify predictors of LVRR and assess the added value of mutation status.

Main Results:

  • LVRR occurred in 52% of patients after 12 months of optimal medical treatment.
  • Clinical predictors of LVRR included low baseline ejection fraction and beta-blocker treatment.
  • Most genetic mutations were associated with lower LVRR rates, except for TTN and LMNA, which were independently associated with LVRR.

Conclusions:

  • Genetic mutations significantly influence the clinical course and long-term prognosis of DCM/HNDC patients.
  • Mutation status improves the predictive model for LVRR.
  • LVRR is an independent predictor of reduced heart failure hospitalization and cardiovascular death risk.
Abstract

Keywords:
cardiomyopathy, dilatedhumanstherapeuticsventricular remodeling

More Related Videos

Reduction in Left Ventricular Wall Stress and Improvement in Function in Failing Hearts using Algisyl-LVR07:24

Reduction in Left Ventricular Wall Stress and Improvement in Function in Failing Hearts using Algisyl-LVR

Published on: April 8, 2013

24.7K
A Doxorubicin-Induced Murine Model of Dilated Cardiomyopathy In Vivo05:14

A Doxorubicin-Induced Murine Model of Dilated Cardiomyopathy In Vivo

Published on: May 16, 2020

5.4K

Related Concept Videos

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,...
566
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...
488
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...
532
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...
442
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...
605
Cardiomyopathy VI: Nursing Management01:29

Cardiomyopathy VI: Nursing Management

Assessment: Nursing management of patients with cardiomyopathy begins with a thorough assessment of the patient's history, including a family history of cardiomyopathy or sudden cardiac death, personal history of heart disease, hypertension, diabetes, and any alcohol consumption or drug use.During the physical examination, assess vital signs, look for signs of heart failure (such as edema, jugular venous distention, and cyanosis), auscultate for abnormal heart sounds (like murmurs and gallops),...
354