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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Genetics Bridge The Link Between Mitral Valve Prol ...
Genetics Bridge The Link Between Mitral Valve Prolapse, Arrhythmia and Sudden Death!
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Pdf Summary
Mitral valve prolapse (MVP), a common heart condition, is usually benign and does not require surgery. However, in some cases, it can lead to severe regurgitation and arrhythmias, including ventricular tachyarrhythmias and sudden cardiac death (SCD). Researchers are studying the mechanisms connecting MVP and arrhythmia. In this case study, a patient with arrhythmic MVP was found to have a pathogenic variant in the FLNC gene, which is associated with cardiomyopathies and SCD risk. The patient also had other genetic variants of uncertain significance.<br /><br />The patient underwent cardiac magnetic resonance (CMR), which revealed late gadolinium enhancement and active inflammation. Family history was also relevant, with a history of SCD in the paternal grandfather and grandmother. Gene testing revealed the pathogenic variant in FLNC, as well as other variants in NKX2-5 and RYR2 genes.<br /><br />Based on the genetic findings and the patient's condition, a dual chamber implantable cardioverter defibrillator (ICD) was implanted to reduce the risk of SCD. A subsequent procedure helped suppress the arrhythmias. Cascade family screening and genetic testing have been offered to family members to determine if they also carry the genetic variants.<br /><br />The study concludes that arrhythmic MVP may have an underlying genetic cause, which is associated with cardiomyopathies and SCD. Therefore, it is important to evaluate patients with arrhythmic MVP using detailed family history and targeted genetic testing. Larger studies comparing arrhythmic MVP to benign MVP are needed for further investigation.
Asset Subtitle
Presenting Author - Ghaith Sharaf Dabbagh, MD; Co-Author - Edmond Obeng-Gyimah, MD; Co-Author - Rise Perry, MSN, AGACNP-BC, AGPCNP-BC; Co-Author - Adnan Malik, MD; Co-Author - Sandy Tran, BSN, RN; Co-Author - Anwar A. Chahal, MD PhD MRCP FACC FESC;
Meta Tag
Cardiac/circulatory disorders
Cardiovascular System
Genetic Testing
Co-Author
Edmond Obeng-Gyimah, MD
Co-Author
Rise Perry, MSN, AGACNP-BC, AGPCNP-BC
Co-Author
Adnan Malik, MD
Co-Author
Sandy Tran, BSN, RN
Co-Author
Anwar A. Chahal, MD PhD MRCP FACC FESC
Presenting Author
Ghaith Sharaf Dabbagh, MD
Keywords
Mitral valve prolapse
arrhythmias
sudden cardiac death
FLNC gene
cardiomyopathies
cardiac magnetic resonance
family history
implantable cardioverter defibrillator
genetic testing
arrhythmic MVP
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