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Cardiomyopathy — Genetic Counseling

Genetic testing and cascade screening in inherited cardiomyopathies.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Kardiyoloji department. Book Appointment →

What is Cardiomyopathy — Genetic Counseling?

Most cardiomyopathies have a heritable component. Pathogenic variants are detected in about 60% of hypertrophic cardiomyopathy (HCM), 50% of arrhythmogenic right-ventricular cardiomyopathy (ARVC) and 30–40% of dilated cardiomyopathy (DCM) cases.

Genetic testing of the index patient guides cascade screening of first-degree relatives, allows early identification of carriers and supports informed reproductive choices.

Symptoms

Established diagnosis of cardiomyopathy
Family history of sudden death at a young age
More than one affected family member

Risk Factors

Familial cardiomyopathy
Sudden cardiac death below age 40 in the family
Cardiomyopathy of unknown aetiology

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • When a cardiomyopathy is newly diagnosed (consider genetic testing)
  • When a pathogenic variant is identified for cascade family screening
  • When planning pregnancy or pre-implantation genetic testing

Treatment Methods

01
Cardiomyopathy-targeted gene panel testing
02
Cascade screening of first-degree relatives
03
Clinical follow-up of variant carriers
04
Management of variants of uncertain significance
05
Pre-implantation genetic testing where indicated
06
Psychosocial support and reproductive counseling

Which Department to Visit?

You can visit our Kardiyoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.