期刊
AMERICAN JOURNAL OF CASE REPORTS
卷 19, 期 -, 页码 820-824出版社
INT SCIENTIFIC LITERATURE, INC
DOI: 10.12659/AJCR.909601
关键词
Cardiomyopathy, Dilated; Frameshift Mutation; Heart Failure; Pregnancy Complications, Cardiovascular
资金
- Institute of Cardiology [2.56/II/2014]
- National Science Centre Poland [2013/11/N/NZ2/02528, 2011/01/B/NZ4/03455]
- DETECTIN-HF project (ERA-CVD framework)
Objective: Unknown ethiology Background: Peripartum cardiomyopathy (PPCM) is a potentially life-threatening, pregnancy-associated cause of heart failure affecting previously healthy women. Recent research suggests a possible role of 16-kDa prolactin in promoting cardiomyocyte damage. However, the genetic predisposition is not well recognized. Case Report: We report the case of a 25-year-old woman with a severe course of PPCM with left ventricle ejection fraction of 25-30%, complicated by ventricular arrhythmia and postpartum thyroiditis. As no traditional risk factors of PPCM were identified, the patient was referred for genetic testing. Next-generation sequencing revealed a novel titin gene-truncating mutation NM_001267550: p.Leu23499fs/c. 70497_40498insT in the proband as well as in her mother. In the patient, a very late recovery > 12 months postpartum was observed, which required long-term medical treatment with bromocriptine. Conclusions: PPCM may occur in women with the genetic predisposition, being modified by an interaction of biological factors, such as a high prolactin level, a ventricular arrhythmia, and an autoimmune disorder. Recovery from severe heart failure due to an inherited cardiomyopathy is possible with careful and appropriate medical management.
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