Pathogenic BAG3 Variant in Peripartum Cardiomyopathy and Significant Family History of Sudden Death
Open Access
- 23 August 2024
- journal article
- Published by Sociedade Brasileira de Cardiologia in International Journal of Cardiovascular Sciences
- Vol. 37
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 [...] 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 yearsKeywords
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