Cardiac sarcoidosis in a carrier of transthyretin gene mutation: a case report.

ABSTRACT:

Background

Sarcoidosis is a rare multiorgan inflammatory disorder of unknown aetiology, characterized by the formation of non-caseating granulomas in the affected organs. Cardiac involvement is underrecognized and observed in up to 25% of cases in autopsy studies, and is associated with a high mortality rate, especially due to sudden cardiac death due to ventricular arrhythmias.

Case summary

A 41-year-old man well known to our hospital because of his father's diagnosis of cardiac amyloidosis, and carrier of transthyretin (TTR) gene mutation, was hospitalized following a resuscitated cardiac arrest. The patient was hospitalized a month before for a syncopal episode with demonstration of preserved left ventricular ejection fraction (LVEF) with akinetic basal septum at h

SUBMITTER: Menale S 

PROVIDER: S-EPMC9933939 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature