Related Experiment Video

Updated: Aug 9, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience

P Charron1, D Héron, M Gargiulo

  • 1Service de Cardiologie, Hôpital Pitié-Salpêtriére, Paris, France. pcharron@infobiogen.fr

Journal of Medical Genetics
|October 4, 2002
PubMed

Insights

Genetic testing for hypertrophic cardiomyopathy (HCM) requires a specialized, multidisciplinary approach. Our experience highlights the need for careful psychological and medical consideration in clinical practice.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Counseling

Background:

  • Genetic testing for hypertrophic cardiomyopathy (HCM) is now clinically available.
  • This raises complex questions regarding implications, benefits, and procedural organization.
  • A structured approach is needed to manage the medical and psychological aspects.

Purpose of the Study:

  • To discuss questions and propose guidelines for genetic testing in HCM.
  • To report preliminary experience with a specific multidisciplinary procedure for genetic testing in HCM.

Main Methods:

  • Developed a multidisciplinary, multi-step procedure involving cardiologists, geneticists, and psychologists.
  • Evaluated 70 subjects across presymptomatic diagnosis, prenatal counseling, and diagnostic testing scenarios.

Main Results:

  • Patients primarily sought presymptomatic and prenatal genetic testing.
  • Of 29 adults for presymptomatic diagnosis, 19 continued, with 6 finding mutations and 2 experiencing negative psychological impact.
  • Prenatal and diagnostic testing were pursued by some, while prognostic testing was not performed.

Conclusions:

  • Preliminary experience confirms the complexity of genetic testing in HCM.
  • A specific, multidisciplinary procedure is essential for good clinical practice.
Abstract

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

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

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

Published on: August 8, 2022

Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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,...
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...
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...
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...