2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Genetics Bridge The Link Between Mitral Valve Prolapse, Arrhythmia and Sudden Death!

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

Genetic Testing

Cardiovascular System

Cardiac/circulatory disorders

Co-Author Anwar A. Chahal, MD PhD MRCP FACC FESC

Co-Author Sandy Tran, BSN, RN

Co-Author Adnan Malik, MD

Co-Author Rise Perry, MSN, AGACNP-BC, AGPCNP-BC

Co-Author Edmond Obeng-Gyimah, MD

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