Abstract

Introduction: Rheumatic Heart Disease (RHD) is determined by a complex interaction between socioeconomic environment and host susceptibility. Relatives of patients with advanced RHD share both, and may be at high-risk. We aimed to use echocardiographic (echo) family screening to evaluate the risk of RHD among 1 st degree relatives of patients with advanced RHD. Methods: From Feb 2020 - Jun 2021 patients with advanced RHD were consecutively enrolled in the University Hospital’s outpatient clinics. Consented 1 st degree relatives were invited for echo screening (2012 World Heart Federation Criteria) utilizing handheld devices (GE VSCAN) by non-physicians, with telemedicine interpretation by 2 experts. Matched controls (spouses, neighbors) living in the same household were also enrolled in a 1:5 fashion. A confirmatory full echo (GE Vivid IQ) was scheduled if abnormalities were observed, and all positive RHD cases were referred for follow-up. Results: In 16 months, 202 relatives and 42 controls of 117 patients were screened, including 114 children, 68 siblings and 20 parents. Mean age was 41±18 years, 62% were women and 214 (88%) lived with the index case for >10 years. At total 51 (21%) individuals had hypertension, 17 (7%) diabetes, 5 reported a previous stroke and only 5 (all relatives) had personal history of RHD. Among index cases, 73% reported current or past prescription of Penicillin. Echo findings suggestive of RHD were observed in 0 controls and 14 (7%) relatives (p=0.08), being 11 with mitral valve (MV) disease and 3 with mixed (mitral and aortic valve (AV)) disease. Eleven patients had mild/moderate MV regurgitation, 4 with associated MV stenosis and abnormal morphology. Two patients had mild AV regurgitation and abnormal AV morphology, associated with mild AV and MV stenosis, and 1 patient had bioprostheses in the MV and AV. One case of mild left ventricular dysfunction was observed, and 1 patient had indication of commissurotomy for MV stenosis at the time of diagnosis. Conclusions: First-degree relatives of individuals with clinical RHD are at greater risk of having RHD and family screening should be considered. Genotyping studies are warranted to better understand individual and family susceptibility to RHD, in addition to socioeconomic conditions.

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