Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Skip to content

Try the next-generation Data Catalog at catalog-beta.data.gov and help shape it with your feedback.

  • Feedback

    • Genetic counselling for hypertrophic cardiomyopathy: are we ready for it?

    Metadata Updated: September 6, 2025

    Hypertrophic cardiomyopathy (HCM) is a dominant genetic disorder of the myocardium associated with dysfunctional contractile proteins. The major risk of HCM is sudden cardiac death, which may occur even in asymptomatic carriers. Causes are highly heterogeneous. Over 140 different mutations in nine sarcomeric genes have been described to date. The majority of cases (80% or more) may eventually be traced to one of these genes. Although genetic counselling is suggested even if mutations are not known, molecular diagnosis implies new options such as carrier identification or - theoretically - preclinical risk stratification. A scheme according to which cardiologists and clinical and molecular geneticists could cooperate in counselling patients and managing HCM clinically is proposed.

    Access & Use Information

    Public: This dataset is intended for public access and use. License: No license information was provided. If this work was prepared by an officer or employee of the United States government as part of that person's official duties it is considered a U.S. Government Work.

    Downloads & Resources

    Dates

    Metadata Created Date July 24, 2025
    Metadata Updated Date September 6, 2025

    Metadata Source

    Harvested from Healthdata.gov

    Other Data Resources

    Additional Metadata

    Resource Type Dataset
    Metadata Created Date July 24, 2025
    Metadata Updated Date September 6, 2025
    Publisher National Institutes of Health
    Maintainer
    NIH
    Identifier https://healthdata.gov/api/views/3rf9-gyz8
    Data First Published 2025-07-14
    Data Last Modified 2025-09-06
    Category NIH
    Public Access Level public
    Bureau Code 009:25
    Metadata Context https://project-open-data.cio.gov/v1.1/schema/catalog.jsonld
    Metadata Catalog ID https://healthdata.gov/data.json
    Schema Version https://project-open-data.cio.gov/v1.1/schema
    Catalog Describedby https://project-open-data.cio.gov/v1.1/schema/catalog.json
    Harvest Object Id 1350dea2-f362-46d6-a5e3-8286ca199657
    Harvest Source Id 651e43b2-321c-4e4c-b86a-835cfc342cb0
    Harvest Source Title Healthdata.gov
    Homepage URL https://healthdata.gov/d/3rf9-gyz8
    Program Code 009:033
    Source Datajson Identifier True
    Source Hash f59a4ee784d0cfe2b95c3a07f15433142248832d2f4f3c10047425abf325e75d
    Source Schema Version 1.1

    Didn't find what you're looking for? Suggest a dataset here.