Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry.

Autor: Pfeffer TJ; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., Auber B; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Pabst B; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Agca KC; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., Berliner D; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., König T; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., Hilfiker-Kleiner D; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany; Department of Cardiovascular Complications of Oncologic Therapies, Medical Faculty of the Philipps University Marburg, Marburg, Germany., Bauersachs J; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany., Ricke-Hoch M; Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany. Electronic address: hoch.melanie@mh-hannover.de.
Jazyk: angličtina
Zdroj: International journal of cardiology [Int J Cardiol] 2023 May 15; Vol. 379, pp. 96-99. Date of Electronic Publication: 2023 Mar 12.
DOI: 10.1016/j.ijcard.2023.03.028
Abstrakt: Background: Heat shock protein family B (small) member 6 (HSPB6) mediates cardioprotective effects against stress-induced injury. In humans two gene variants of HSPB6 have been identified with a prevalence of 1% in patients with dilated cardiomyopathy (DCM). Peripartum cardiomyopathy (PPCM) is a potentially life-threatening heart disease of unknown etiology in previously healthy women of whom 16-20% of PPCM carry gene variants associated with cardiomyopathy. This study was designed to analyze the prevalence of pathogenic HSPB6 gene variants in PPCM.
Methods and Results: Whole-exome sequencing was performed in whole blood samples of PPCM patients (n = 65 PPCM patients from the German PPCM registry) and screened subsequently for HSPB6 gene variants. In this PPCM cohort one PPCM patient carries a HSPB6 gene variant of uncertain significance (VUS), which was not associated with changes in the amino acid sequence and no likely pathogenic or pathogenic variants were detected.
Conclusion: HSPB6 gene variants did not occur more frequently in a cohort of PPCM patients from the German PPCM registry, compared to DCM patients. Genetic analyses in larger cohorts and in cohorts of different ethiologies of PPCM patients are needed to address the role of the genetic background in the pathogenesis of PPCM.
Competing Interests: Declaration of Competing Interest None of the authors has a conflict of interest or financial interest.
(Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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