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Genetic counselling for hypertrophic cardiomyopathy: are we ready for it?
1Max-Planck-Institute for Physiological and Clinical Research, Bad Nauheim, Germany. hvosberg@kerchkoff.mpg.de
Insights
Hypertrophic cardiomyopathy (HCM) is a genetic heart condition with a high risk of sudden cardiac death. Identifying genetic mutations offers new possibilities for carrier identification and risk stratification in HCM patients.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Hypertrophic cardiomyopathy (HCM) is a primary genetic disorder of the heart muscle.
- It is characterized by dysfunctional contractile proteins and carries a significant risk of sudden cardiac death, even in individuals without symptoms.
- The genetic causes of HCM are diverse, with over 140 mutations identified in nine sarcomeric genes.
Purpose of the Study:
- To highlight the genetic basis of Hypertrophic Cardiomyopathy (HCM).
- To discuss the implications of molecular diagnosis for patient management.
- To propose a collaborative framework for clinical and genetic management of HCM.
Main Methods:
- Review of existing literature on HCM genetics.
- Analysis of identified mutations in sarcomeric genes.
- Development of a proposed cooperative scheme for clinical and genetic management.
Main Results:
- Over 140 mutations in nine sarcomeric genes are linked to HCM, accounting for the majority of cases.
- Molecular diagnosis enables carrier identification and potential preclinical risk stratification.
- Genetic heterogeneity necessitates a comprehensive diagnostic approach.
Conclusions:
- Genetic factors are central to the pathophysiology of HCM.
- Molecular diagnosis opens avenues for personalized risk assessment and management.
- Multidisciplinary collaboration between cardiologists and geneticists is crucial for optimal HCM care.
Abstract:
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.