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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
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Storage diseases with hypertrophic cardiomyopathy phenotype
Luis Ruiz-Guerrero1, Roberto Barriales-Villa2,3
1Cardiology Service, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla (IDIVAL), Santander, Spain.
Global Cardiology Science & Practice
|November 6, 2018
Summary
Hypertrophic cardiomyopathy (HCM) can be mimicked by storage diseases, not just sarcomeric causes. Early diagnosis of these HCM phenocopies is crucial for timely treatment and genetic counseling.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is often assumed to be sarcomeric.
- HCM phenocopies, primarily storage diseases, represent 5-10% of cases.
- Senile cardiac amyloidosis is increasingly prevalent, particularly in developing nations.
Purpose of the Study:
- To review HCM phenocopies, focusing on storage disorders.
- To highlight the diagnostic challenges posed by these heterogeneous conditions.
- To emphasize the importance of early diagnosis for effective management.
Main Methods:
- Classification of storage disorders into extracellular and intracellular deposit types.
- Focus on prevalent conditions relevant to cardiologists.
- Review of current understanding and clinical implications.
Main Results:
- Storage diseases present a diagnostic challenge due to multisystemic involvement.
- Delayed diagnosis impacts patient outcomes and genetic counseling.
- Emerging therapies necessitate a better understanding of these conditions.
Conclusions:
- HCM phenocopies are a significant consideration in hypertrophic cardiomyopathy diagnosis.
- Accurate identification of storage disorders is vital for appropriate treatment.
- Further research and clinical awareness are needed for optimal patient care.
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