Aurelia Ahokas

Expanding the cardiac phenotype of homozygous PPA2 variants: insights from a large Finnish family

Cardiomyopathies in children associate with significant morbidity and mortality. PPA2 deficiency is a rare mitochondrial disorder linked to sudden cardiac death in children and adolescents. Most reported cases are post-mortem, with limited data on surviving individuals. To expand the phenotypic understanding of...