NPPA and familial dilated cardiomyopathy: Prominent pathways included cardiovascular-related ones such as Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) (enrich ratio: 0.2267), Dilated Cardiomyopathy (DCM) (enrich ratio: 0.2258), and Hypertrophic Cardiomyopathy (HCM) (enrich ratio: 0.2135), involving genes like NPPA, ITGB1, and CACNA2D2. Metabolic pathways, including Glyoxylate and Dicarboxylate Metabolism (enrich ratio: 0.3333) and Synthesis and Degradation of Ketone Bodies (enrich ratio: 0.4444), featured ACAT2 and ENO1, indicating metabolic reprogramming for hypoxic adaptation.