PRDM16

Professionals

Left ventricular noncompaction, LVNC (LVNC8, OMIM 615373), constitutes a primary cardiomyopathy that is typically characterized with a severely thickened, 2-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses. LVNC may appear in association with other cardiomyopathies (dilated or hypertrophic cardiomyopathy). LVNC may arise in children or in adults. One of the disease genes for LVNC is PRDM16. The prevalence of general LVNC is 1:2000 but the prevalence for the PRDM16 associated LVNC is not available. Inheritance of LVNC is autosomal dominant in the majority of cases. In cases where inheritance of PRDM16 associated LVNC was investigated, the altered variant occurred de novo.

Dilated cardiomyopathy, DCM (DCM 1LL, OMIM 615373), is a cardiomyopathy affecting heart muscle function. The hallmark of DCM is the enlargement (dilatation) of the left ventricle of the heart. Left ventricular dysfunction leads to reduced blood supply for the whole body. In the consequence, DCM patients experience signs of fatigue and reduced exercise ability. DCM can be acquired e.g. due to myocarditis, chemotherapy or metabolic disease. Primary DCM is due to genetic defects in a number of cardiomyopathy disease genes and can be inherited. The prevalence of general DCM is 1:250 but a prevalence for the PRDM16 associated DCM is not available. Inheritance for the PRDM16 associated DCM is assumed to be autosomal dominant.

1p36 deletion syndrome (OMIM 607872) is the most frequent deletion syndrome occurring with a frequency of 1:5000-1:10.000. Patients with 1p36 deletion syndrome are characterized by craniofacial dysmorphism, structural brain abnormalities, seizure disorder, hearing loss, intellectual disability, obesity, and growth delay. Patients with 1p36 deletion syndrome may develop cardiomyopathy and/or structural heart defects.