This website provides information on patients with genetic variants in the PRDM16 gene, including clinical data, molecular data, management, and research options.

Genetic alterations affecting specifically the PRDM16 gene cause isolated left ventricular noncompaction cardiomyopathy (LVNC) and dilated cardiomyopathy (DCM). Genetic defects involving deletion of genomic regions including the PRDM16 gene cause the multisystem disorder 1p36 deletion syndrome. Patients with 1p36 deletion syndrome may have cardiomyopathy associated with or without structural heart defects.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with genetic variants in the PRDM16 gene.

Sabine Klaassen, MD, Research group leader, Charité - Universitätsmedizin Berlin, Experimental and Clinical Research Center (ECRC), Berlin, Germany, klaassen@mdc-berlin.de

Jirko Kühnisch, PhD, Project manager, Charité - Universitätsmedizin Berlin, Experimental and Clinical Research Center (ECRC), Berlin, Germany, Jirko.kuehnisch@mdc-berlin.de