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Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions

Francesca Girolami1, Alessia Gozzini1, Eszter Dalma Pálinkás2,3

  • 1Pediatric Cardiology Unit, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.

Journal of Clinical Medicine
|April 13, 2023
PubMed

Insights

Genetic testing and counseling are crucial for diagnosing hypertrophic cardiomyopathy (HCM) and guiding treatment. Cardiologists and geneticists must collaborate to interpret complex genetic data and address patient concerns effectively.

Area of Science:

  • Cardiovascular Genetics
  • Medical Diagnostics

Background:

  • Genetic testing and counseling are essential components of the hypertrophic cardiomyopathy (HCM) diagnostic process.
  • These tools aid in confirming the diagnosis, differentiating HCM from similar conditions, and personalizing treatment strategies.
  • Genetic testing facilitates cascade testing within families to identify at-risk relatives.

Purpose of the Study:

  • To highlight the integral role of genetic counseling and testing in the diagnosis and management of HCM.
  • To discuss the complexities introduced by Next Generation Sequencing (NGS) in interpreting genetic alterations.
  • To present and address frequently asked questions from HCM patients based on extensive clinical experience.

Main Methods:

  • Review of genetic counseling and testing protocols for hypertrophic cardiomyopathy.
  • Discussion of the collaborative role between cardiologists and geneticists in evaluating genetic variants.
  • Analysis of patient-reported questions and concerns over a 20-year period.

Main Results:

  • Next Generation Sequencing (NGS) has increased the complexity of genetic data interpretation in HCM.
  • Effective collaboration between cardiologists and geneticists is vital for accurate pathogenicity assessment.
  • Patient communication and addressing concerns are critical for realizing the benefits of genetic testing.

Conclusions:

  • Genetic counseling and testing are indispensable for comprehensive HCM management.
  • Interdisciplinary collaboration and clear patient communication are paramount for successful genetic testing outcomes.
  • Addressing patient questions and concerns enhances the utility of genetic information in HCM care.

Keywords:
cascade testinggenetic counsellinggenetic testinghypertrophic cardiomyopathymultidisciplinary teamnext-generation sequencing

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