In the present study, we detected a novel pathogenic variant, SLC22A5 (NM_003060.4), c.821G > A: p.Trp274Ter, in an Iranian family with early manifestations of hypertrophic cardiomyopathy and metabolic abnormalities, corresponding to the clinical and paraclinical symptoms of PCD. The gene discussed is SLC22A5; the disease is hypertrophic cardiomyopathy.