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 wom...

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Published inInternational journal of cardiovascular sciences Vol. 37
Main Authors Pereira, Antonio Pedro Lima Costa, Rodrigues, Eduarda Vieira, Tassi, Eduardo Marinho, Lima, Maria Angelica de Faria Domingues de, Souza, Fabio de
Format Journal Article
LanguagePortuguese
Published Sociedade Brasileira de Cardiologia 2024
Subjects
CARDIAC & CARDIOVASCULAR SYSTEMS
Peripartum Period
Sudden Death
Dilated Cardiomyopathy
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Summary: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.
ISSN:2359-5647
2359-5647
DOI:10.36660/ijcs.20240007