Abstract
Inorganic pyrophosphate A2 (PPA2) deficiency is a rare autosomal recessive mitochondrial disorder associated with cardiomyopathy and sudden cardiac death (SCD). Limited cases have been reported globally, with none documented in Pakistan. This case reports the first genetically confirmed case of PPA2 deficiency in an asymptomatic, 13-month-old Pakistani male. Following the sudden death of his sibling, a cardiac and genetic evaluation was performed. Whole-exome sequencing revealed a homozygous mutation in the patient's PPA2 gene, with parents being carriers. A multidisciplinary management approach was adopted, focusing on lifestyle modification and risk mitigation. Diagnostic challenges and the importance of genetic evaluation in families with unexplained SCD, particularly in regions of high levels of consanguinity, are highlighted. Individuals with a family history of SCD should be screened for any genetic predisposition to cardiac disease. Strengthening investigative services and adopting a multidisciplinary approach is essential for early diagnosis and management.