PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

ABSTRACT:

Purpose

Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2 variants.

Methods

Synthesis of clinical and molecular data concerning 34 individuals harboring five previously reported PPA2 variants and 12 novel variants, 11 of which were functionally characterized.

Results

Among the 34 individuals, only 6 remain alive. Twenty-three died before the age of 2 years while five died between 14 and 16 years. Within these 28 cases, 15 died of sudden cardiac arrest and 13 of acute heart failure. One case was diagnosed prenatally with cardio

SUBMITTER: Guimier A 

PROVIDER: S-EPMC8629752 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature