Pathogenic BAG3 Variant in Peripartum Cardiomyopathy and Significant Family History of Sudden Death

Abstract

The BAG3 gene encodes the BAG3 protein, a multifunctional chaperone involved in proteostasis and protection of cardiomyocytes. Pathogenic BAG3 variants have previously been associated with dilated cardiomyopathy (DCM), including peripartum cardiomyopathy (PPCM). We present the case of a woman who complained of palpitations during the late postpartum period and was diagnosed with left ventricular dysfunction; genetic testing revealed a pathogenic variant of the BAG3 gene. Several cases of sudden death were noted in her family history. After 3 years of follow-up, ventricular function was significantly improved with regular cardiovascular medication, and no symptoms were reported. We emphasize the role of genetic testing in this case.