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Published on: August 8, 2022
Cardiomyopathies in children
1Department of Pediatrics, Ewha Womans University School of Medicine, Seoul, Korea.
Insights
Cardiomyopathy (CMP) is a cardiac muscle disease with dilated or hypertrophic types, often with genetic links. Genetic testing is crucial for diagnosing CMP, guiding treatment, and identifying new therapeutic targets.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Cardiomyopathy (CMP) is a heterogeneous cardiac muscle disease with primary and secondary forms.
- Primary CMP lacks extrinsic causes and can be influenced by genetics and ethnicity.
- Existing classification systems for primary CMP vary among major cardiology organizations.
Purpose of the Study:
- To review the epidemiology, pathophysiology, diagnosis, and treatment of cardiomyopathy.
- To provide pediatricians with insights for early identification and management of idiopathic CMP in children.
- To highlight the role of genetic testing in CMP diagnosis, care, and prognosis.
Main Methods:
- Literature review focusing on cardiomyopathy epidemiology, pathophysiology, diagnosis, and treatment.
- Analysis of genetic factors and their impact on CMP incidence and classification.
- Examination of diagnostic and therapeutic strategies for idiopathic CMP in pediatric populations.
Main Results:
- CMP presents as dilated or hypertrophic types, with primary CMP often linked to genetic factors and family history.
- Genetic testing is vital for confirming CMP diagnosis, personalizing patient care, and potentially improving prognosis.
- Identifying genetic causes in families can lead to the discovery of novel therapeutic targets for CMP.
Conclusions:
- Early identification and management of pediatric idiopathic CMP are critical.
- Genetic testing offers significant benefits for patients and families affected by cardiomyopathy.
- Further research into genetic factors may unlock new treatment avenues for this complex disease.
Abstract:
Cardiomyopathy (CMP) is a heterogeneous disease caused by a functional abnormality of the cardiac muscle. CMP is of 2 major types, dilated and hypertrophic, and is further classified as either primary or secondary. Secondary CMP is caused by extrinsic factors, including infection, ischemia, hypertension, and metabolic disorders. Primary CMP is diagnosed when the extrinsic factors of secondary CMP are absent. Furthermore, the World Health Organization, American Heart Association, and European Cardiology Association have different systems for clinically classifying primary CMP. Primary CMP is rare and associated with a family history of the disease, implying that genetic factors might affect its incidence. In addition, the incidence of CMP varies widely according to patient ethnicity. Genetic testing plays an important role in the care of patients with CMP and their families because it confirms diagnosis, determines the appropriate care for the patient, and possibly affects patient prognosis. The diagnosis and genetic identification of CMP in patients' families allow the possibility to identify novel genes that may lead to new treatments. This review focuses on the epidemiology, pathophysiology, diagnosis, and treatment of CMP, with the aim of providing pediatricians with insights that may be helpful in the early identification and management of idiopathic CMP in children.
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Cardiomyopathy II: Dilated Cardiomyopathy
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Cardiomyopathy VI: Nursing Management

