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Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers
D de Gonzalo-Calvo1, M Quezada2, O Campuzano3
1Cardiovascular Research Center, CSIC-ICCC, Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
International Journal of Cardiology
|November 28, 2016
Summary
Familial dilated cardiomyopathy (FDC) is a common inherited heart condition. Integrated imaging, genetic, and biomarker approaches improve FDC diagnosis and management.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Idiopathic dilated cardiomyopathy is a prevalent inherited heart condition.
- 30-50% of dilated cardiomyopathy cases have a familial origin.
- High genetic heterogeneity complicates familial dilated cardiomyopathy (FDC) studies.
Purpose of the Study:
- To discuss current procedures and novel approaches for FDC clinical management.
- To highlight the importance of integrating multiple diagnostic modalities.
Main Methods:
- Clinical screening, electrocardiogram, and echocardiography are standard.
- Cardiac magnetic resonance imaging (MRI) is considered.
- Next-generation sequencing enables extensive genetic testing for FDC.
Main Results:
- New imaging techniques (e.g., speckle-tracking, strain analysis, cardiac MRI) show promise.
- Circulating biomarkers, including non-coding RNAs, are emerging tools.
- Genetic testing is fundamental for FDC clinical management.
Conclusions:
- A combined approach using imaging, genetic, and blood-based tests is recommended for FDC evaluation.
- Novel strategies enhance the clinical management of familial dilated cardiomyopathy.
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