Related Experiment Video

Updated: Jul 12, 2025

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

3.2K

Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives

Søren K Nielsen1, Frederikke G Hansen2, Torsten B Rasmussen3

  • 1Department of Cardiology, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark; Department of Cardiology, Lillebaelt Hospital, Vejle, Denmark.

Journal of the American College of Cardiology
|October 25, 2023
PubMed

Insights

Family screening for hypertrophic cardiomyopathy (HCM) in relatives of patients with normal genetic tests revealed a low frequency of new diagnoses. Affected individuals generally had a favorable prognosis, suggesting value in continued screening.

Area of Science:

  • Cardiology
  • Genetics
  • Preventive Medicine

Background:

  • Current guidelines advocate genetic screening for relatives of hypertrophic cardiomyopathy (HCM) index patients.
  • The utility of family screening in HCM cases with normal genetic testing for known genes remains unclear.

Purpose of the Study:

  • To assess the frequency of familial hypertrophic cardiomyopathy (HCM) among relatives of index patients who underwent normal genetic investigations.
  • To characterize the clinical presentation and prognosis of relatives diagnosed with HCM through family screening.

Main Methods:

  • Clinical and genetic investigations were conducted on relatives of HCM index patients lacking pathogenic variants in known HCM genes.
  • Relatives underwent clinical assessments to identify HCM diagnoses and monitor disease progression over time.

Main Results:

  • Among 80% of relatives screened, 5% were diagnosed with HCM at baseline, and 0.3% developed it over 5 years.
  • The median age of diagnosis was 57 years, with two-thirds identified via family screening.
  • Affected relatives showed a favorable prognosis with no adverse complications and a low risk of sudden cardiac death (SCD).

Conclusions:

  • Family screening of HCM index patients with normal genetic results identifies affected relatives at a low frequency.
  • These identified relatives typically exhibit a favorable clinical course, supporting the value of systematic screening.
Abstract

Keywords:
genetic investigationshypertrophic cardiomyopathynatural historypenetrancesudden cardiac death

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

5.8K
Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples14:39

Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples

Published on: April 21, 2014

17.4K

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...
16
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...
14
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,...
11
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...
14
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...
12
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
22