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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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[Modern genetic counselling : Practical aspects exemplified by hypertrophic cardiomyopathy]

F Czepluch1, G Hasenfuß2, B Wollnik3

  • 1Klinik für Kardiologie und Pneumologie, Universitätsmedizin Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Deutschland. f.czepluch@med.uni-goettingen.de.

Der Internist
|June 27, 2018
PubMed

Insights

Genetic counseling and molecular testing are crucial for diagnosing inherited heart conditions like hypertrophic cardiomyopathy (HCM). Early diagnosis aids treatment and prognosis for patients and families.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Diagnostics

Background:

  • Inherited monogenic heart diseases require genetic counseling and molecular testing.
  • Early diagnosis through molecular diagnostics is vital for patient and family management.
  • Hypertrophic cardiomyopathy (HCM) is the most common monogenic structural heart disease.

Purpose of the Study:

  • To elucidate essential aspects of modern genetic counseling for inherited heart diseases.
  • To illustrate the application of genetic counseling and diagnostics using HCM case examples.
  • To highlight the importance of genetic diagnostics for early detection, therapy, and prognosis.

Main Methods:

  • Review of genetic counseling principles in monogenic heart diseases.
  • Case study analysis of hypertrophic obstructive cardiomyopathy.
  • Case study analysis of congenital HCM associated with Noonan syndrome.

Main Results:

  • Genetic counseling and molecular testing are fundamental for suspected inherited monogenic heart diseases.
  • Molecular diagnostics facilitate early diagnosis, preventive therapy, and prognosis assessment.
  • HCM serves as a key example to demonstrate the utility of genetic approaches.

Conclusions:

  • Genetic counseling and molecular diagnostics are indispensable for managing inherited monogenic heart diseases.
  • Personalized management strategies are informed by genetic testing results.
  • Understanding genetic underpinnings of heart conditions improves patient outcomes and family screening.

Keywords:
CardiogeneticsGene panelGenetic testingNoonan syndromePedigree

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