Cardiac sudden deathResent molecular genetic study revealed that defects in sarcomeric genes causes cardiomyopathies. Comprehensive screening of 3 sarcomeric genes: TTN (titin), TCAP (telethonin) and TPM1 (alpha-tropomyosin) were performed in 35 consented autopsy cases diagnosed as cardiomyopathy. One...
heart attack and sudden death. “One of the added values to knowing that you are at risk for developing DCM is that we can do prophylactic screening so that silent arrhythmias are picked up before they become harmful,” said Christine
Cardiac pathologies are among the most frequent causes of death worldwide. Regarding cardiovascular deaths, it is estimated that 5 million cases are caused by sudden cardiac death (SCD) annually. The primary cause of SCD is ventricular arrhythmias. Genomic studies have provided pathogenic, likely pat...
MutationTaster is a web-based application designed to assess the disease-causing potential of DNA sequence variants. It employs in silico tests to estimate the impact of a variant on the gene product or protein, conducting assessments at both the protein and DNA levels. Unlike tools limited to ...
sudden cardiac deathTTNdoi:10.1016/j.jacep.2024.09.040Matthew YeeSchool of Medicine, University of California-San Francisco, San Francisco, California, USAJames W. SalazarSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, University of California-San Francisco, San ...
Sudden deathMutationsNGSRARE VARIANTSGENETICSRISKDISEASECardiac pathologies are among the most frequent causes of death worldwide. Regarding cardiovascular deaths, it is estimated that 5 million cases are caused by sudden cardiac death (SCD) annually. The primary cause of SCD is ventricular arrhythmias....
MISSENSE mutationHYPERTROPHIC cardiomyopathySUDDEN death preventionHEART valve diseasesTACHYARRHYTHMIASIntroduction: Left ventricular hypertrophy (LVH) diagnosed by echocardiography has broad differential diagnosis. LVH is most frequently caused by abnormal loading conditions (i.e. uncontrolled arterial...
Structural or electrophysiologic cardiac anomalies may compromise cardiac function, leading to sudden cardiac death (SCD). Genetic screening of families with severe cardiomyopathies underlines the role of genetic variations in cardiac‐specific genes. The present study details the ...