News, Publication

Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals

June 2nd, 2021

An original investigative study of 413 adults who had unexplained sudden cardiac death, nearly 1/5 of individuals had pathogenic or likely pathogenic genetic variants consistent with inherited cardiomyopathies or arrhythmia syndromes, despite having normal cardiac findings. Read more…

 

Figure 1.  Study Flow and Variant Filtering Schematic Diagrams
Study Flow and Variant Filtering Schematic Diagrams

A, Noncardiac death included intracranial hemorrhage or drug overdose. Lack of sufficient information indicates missing data (eg, cause of death, heart dimensions); sudden coronary death, acute coronary syndrome, 75% or greater stenosis in any epicardial coronary arteries, or poststent implantation or bypass graft; sudden cardiac death, cardiomyopathy, valvular heart disease, congenital heart disease, myocarditis, pericarditis, or infective carditis, severe hypertrophy in myocardium, and severe fibrosis in myocardium. ACMG/AMP indicates American College of Medical Genetics and Genomics and the Association for Molecular Pathology; OCME-MD, Office of the Chief Medical Examiner of the State of Maryland; and UTR, untranslated region.