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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Inherited metabolic cardiomyopathies]
Dominique P Germain1, Ales Linhart, Michel Desnos
1Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif (syndromes d'Ehlers-Danlos et pseudoxanthome elastique), Assistance Publique-Hôpitaux de Paris, Paris (75), France. dominique.germain@egp.aphp.fr
Presse Medicale (Paris, France : 1983)
|June 5, 2007
Summary
Genetic storage diseases like PRKAG2 deficiency, Danon disease, and Pompe disease cause hypertrophic cardiomyopathy when sarcomeric gene mutations are undetected. These conditions share a short PR interval and require specific management strategies.
Area of Science:
- Cardiology
- Genetics
- Metabolic Diseases
Background:
- Hypertrophic cardiomyopathy (HCM) affects 1/500 individuals.
- Genetic mutations in sarcomeric proteins explain only two-thirds of HCM cases.
- A subset of unexplained HCM is linked to genetic storage diseases.
Purpose of the Study:
- To investigate genetic storage diseases as a cause of HCM.
- To highlight common clinical features and genetic underpinnings of these conditions.
Main Methods:
- Review of genetic analyses for HCM.
- Identification of storage diseases (PRKAG2 deficiency, Danon disease, Pompe disease, Fabry disease) associated with cardiomyopathy.
- Analysis of clinical presentations and genetic mutations.
Main Results:
- PRKAG2 deficiency, an autosomal dominant disorder, causes storage cardiomyopathy with risks of sudden death.
- Danon disease, an X-linked dominant disorder, presents with cardiomyopathy, myopathy, and intellectual disability.
- Pompe disease, particularly infantile form, shows cardiac improvement with enzyme replacement therapy.
Conclusions:
- Genetic storage diseases are crucial differential diagnoses for HCM.
- Common features include short PR interval, necessitating targeted genetic testing.
- Specific therapies are available for some of these conditions, impacting patient outcomes.
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