Introduction Rheumatic Heart Disease (RHD) is the cardiac consequence of acute rheumatic fever (ARF), an inflammatory disease triggered by streptococcal pharyngitis. Although the prevalence of RHD has decreased in high-income countries, lack of social and economic development and poor primary prevention – mainly in in low- and middle-income countries – perpetuate an environment where RHD remains endemic. It is estimated that RHD continues to affect nearly 33 million people worldwide. According to the World Health Organization (WHO), RHD is responsible […]

Introduction Sudden cardiac arrest (SCA) in young adults is frequently caused by inherited cardiac diseases, particularly cardiomyopathies and ion channelopathies. Genetic testing can be essential in the follow-up of survivors and today´s genetic diagnostics may include the parallel analysis of several SCA related genes, most commonly those associated with ion channelopathies and hypertrophic cardiomyopathy (HC). We present the case of a young survivor of SCA, carrier of double heterozygosity for mutations in the SNC5A and MYBPC3 genes, illustrating the complexity […]