arrhythmogenic right ventricular dysplasia/seizures

Arrhythmogenic right ventricular cardiomyopathy (ARVC), is a heritable condition that is an important, and under-recognized cause of sudden cardiac death. Microscopically, it is represented by fibrofatty replacement of myocardium involving the right ventricular inflow area, apex, and infundibulum.

The annual incidence of sudden cardiac death in young athletes is approximately 1 in 200,000. The most common causes include hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia/cardiomyopathy. These genetic disorders typically manifest in the second decade of life and have the

We report on the autopsy findings of a 37-year-old man with a complex karyotype (mos46,XY,del(18)(p11.1)[14]/46,XY, -13, del (18)(p11.1), +20[8]/47,XY,del(18)(p11.1), +20[8]). He was known to be blind, non-ambulatory, have severe mental retardation, and a seizure disorder. External physical findings

We report a rare autopsy case of early infantile-onset vanishing white matter disease, with a submicroscopic deletion of 14q24.3, which included EIF2B2 and a missense mutation of EIF2B2 (V85E) of the remaining allele. The patient was a 4-year-old boy, who was found to have suddenly died during