Acute heart failure in adulthood as the first manifestation of a homozygous pyrophosphatase 2 variant, expanding the phenotypic spectrum: a case report

This is the first known case of PPA2-related cardiomyopathy presenting with reversible heart failure in adulthood, highlighting an expanded phenotypic spectrum. Recognizing adult-onset cases is crucial, as it provides an opportunity to manage these patients in a personalized manner and to prevent complications, decompensation, or fatal outcomes.