arrhythmogenic right ventricular dysplasia/epileptični krč

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Syncopal Episodes of Arrhythmogenic Right Ventricular Cardiomyopathy in a Patient with Pre-existing Seizure Disorder.

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Prijava / prijava

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.

Hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia in young patients.

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Prijava / prijava

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

Autopsy findings of a 37-year-old man with a complex mosaic karyotype involving del(18p), monosomy 13, and trisomy 20.

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Prijava / prijava

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

An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region.

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Prijava / prijava

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

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