Did a shared thioredoxin-reductase gene mutation lead to maternal peripartum cardiomyopathy and fatal dilated cardiomyopathy in her son? A case report
نویسندگان
چکیده
منابع مشابه
A case of fatal peripartum cardiomyopathy.
A case of fatal cardiomyopathy presenting in the puerperium is described. Despite extensive investigation and post-mortem examination no aetiological factor was found. The diagnosis of specific peri-partum cardiomyopathy is discussed.
متن کاملPeripartum Cardiomyopathy as a Part of Familial Dilated Cardiomyopathy
Background—Anecdotal cases of familial clustering of peripartum cardiomyopathy (PPCM) and familial occurrences of PPCM and idiopathic dilated cardiomyopathy (DCM) together have been observed, suggesting that genetic factors play a role in the pathogenesis of PPCM. We hypothesized that some cases of PPCM are part of the spectrum of familial DCM, presenting in the peripartum period. Methods and R...
متن کاملPeripartum cardiomyopathy and dilated cardiomyopathy: different at heart
Peripartum cardiomyopathy (PPCM) is a severe cardiac disease occurring in the last month of pregnancy or in the first 5 months after delivery and shows many similar clinical characteristics as dilated cardiomyopathy (DCM) such as ventricle dilation and systolic dysfunction. While PPCM was believed to be DCM triggered by pregnancy, more and more studies show important differences between these d...
متن کاملTitin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.
AIM Peripartum cardiomyopathy (PPCM) can be an initial manifestation of familial dilated cardiomyopathy (DCM). We aimed to identify mutations in families that could underlie their PPCM and DCM. METHODS AND RESULTS We collected 18 families with PPCM and DCM cases from various countries. We studied the clinical characteristics of the PPCM patients and affected relatives, and applied a targeted ...
متن کاملMutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy.
AIMS Cardiac energy requirement is met to a large extent by oxidative phosphorylation in mitochondria that are highly abundant in cardiac myocytes. Human mitochondrial thioredoxin reductase (TXNRD2) is a selenocysteine-containing enzyme essential for mitochondrial oxygen radical scavenging. Cardiac-specific deletion of Txnrd2 in mice results in dilated cardiomyopathy (DCM). The aim of this stud...
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ژورنال
عنوان ژورنال: Case Reports in Women's Health
سال: 2020
ISSN: 2214-9112
DOI: 10.1016/j.crwh.2020.e00196