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Article

Alcohol-Induced Sudden Cardiac Death in a Teenager With PPA2 Gene Mutations.

The American journal of forensic medicine and pathology - 1 Dec 2023

Graham Sydney, Peterson Diane C, James Christine

Abstract excerpt

ABSTRACT: The PPA2 gene encodes a mitochondrial pyrophosphatase protein. Mutations in the gene are inherited in an autosomal recessive fashion and, when mutated, function to induce mitochondrial ATP production failure resulting in increased stress on the heart and sudden cardiac death, especially when combined with alcohol. Herein, we describe a case of a 19-year-old female patient with a history of "alcohol...

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Identifiers

PMID: 37249496
DOI: 10.1097/PAF.0000000000000841

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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