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Published on: February 14, 2017
Mitral Valve Prolapse: Multimodality Imaging and Genetic Insights.
Purvi Parwani1, Jean-Francois Avierinos2, Robert A Levine3
1Department of Medicine, Division of Cardiology, University of California San Francisco, San Francisco, CA, United States.
Mitral valve prolapse (MVP), a common heart condition, is diagnosed using imaging techniques. Genetic studies are revealing early signs and improving our understanding of MVP
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Mitral valve prolapse (MVP) is a prevalent heritable valvulopathy affecting 2.4% of the population.
- It is a primary cause of mitral regurgitation (MR) necessitating surgical intervention.
- MVP involves fibromyxomatous changes and leaflet displacement into the left atrium.
Purpose of the Study:
- To review multimodality imaging techniques for MVP assessment.
- To explore the phenotypic spectrum of MVP.
- To detail recent genetic discoveries enhancing understanding of MVP pathophysiology.
Main Methods:
- Echocardiography as the primary diagnostic tool.
- Cardiac magnetic resonance for ventricular quantitation and function assessment.
- Late gadolinium enhancement and T1 mapping for myocardial fibrosis evaluation.
Main Results:
- Multimodality imaging aids diagnosis, prognosis, and phenotyping in genetic studies.
- Genotype-phenotype studies identify milder MVP morphologies in gene carriers.
- Imaging reveals early MVP expression in individuals with genetic predispositions.
Conclusions:
- Multimodality imaging is crucial for comprehensive MVP evaluation.
- Genetic insights are deepening the understanding of MVP mechanisms and potential therapies.
- Identifying early phenotypic expressions aids in managing this common valvulopathy.
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