FAMILY SCREENING IN VALVULAR ABNORMALITIES
Research type
Research Study
Full title
Valvular abnormalities in sudden cardiac death and cardiac arrest. Role of an extensive family screening programme.
IRAS ID
342449
Contact name
Gherardo Finocchiaro
Contact email
Sponsor organisation
St George's University Hospitals NHS Foundation Trust
Duration of Study in the UK
1 years, 5 months, 31 days
Research summary
Sudden cardiac death (SCD) can be the first manifestation of heart disease in apparently healthy individuals. The majority of SCDs or sudden cardiac arrests (SCAs) are attributable to acquired coronary artery disease in older population, whereas inheritable heart muscle diseases and inheritable heart electrical abnormalities are most common causes in the young (<35 years).
The inherited nature of these conditions underscores the need for cardiac evaluation of first-degree relatives of the victims. In the survivors, comprehensive clinical evaluation can provide important information to guide the evaluation of family members. In the deceased, post-mortem examination is critical to guide clinical evaluation of surviving relatives.
The interpretation of the results, however, can be complex because of uncertainties about the significance of certain clinical and autopsy findings. These include heart valve abnormalities such as mitral valve prolapse (MVP), isolated mitral valve abnormalities (iMVA) and bicuspid aortic valve (BAV).
These valvular abnormalities are found in individuals who suffered sudden cardiac arrest (SCA) or SCD and may be inheritable. However, the exact mechanisms through which these valvular abnormalities can contribute to SCD is poorly understood. Moreover, these abnormalities are relatively common in the general population and often not associated with SCD. It is possible they are causal factors for the development of fatal arrhythmias; however, it is also possible that they are innocent bystanders. The role of family screening in valvular abnormalities has not been previously evaluated.
REC name
London - Dulwich Research Ethics Committee
REC reference
24/PR/0954
Date of REC Opinion
17 Sep 2024
REC opinion
Further Information Favourable Opinion