A case of resuscitated cardiac arrest in a school-aged child with PPA2 deficiency
Deficiency of the mitochondrial inorganic pyrophosphatase 2 (PPA2) protein resulting from biallelic genetic variants reducing enzyme activity has been identified as a rare cause of sudden cardiac death in young children and teenagers, often associated with preceding viral infection or alcohol consumption. As the field of cardiac genetics continues to evolve, the PPA2 gene is now included on many, but not all, commercially available arrhythmia and cardiomyopathy panels. As a result, a total of 65 patients with PPA2 deficiency have been reported in the literature over the past eight years, with 11 known survivors.
