In human pathology, molecular alterations (deletions and point mutations) of the PRDM16 gene are associated with cardiomyopathy [10], while chromosomal rearrangements involving PRDM16 (such as translocations with RUNX1 or ETV6), contribute to hematological malignancies like AML and myelodysplastic neoplasms (MDS), often leading to poor prognosis [11–14]. The gene discussed is PRDM16; the disease is cardiomyopathy.