12 July 2018 : Case report
Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation
Unknown etiologyKarolina E. Kryczka1ABCDEF, Zofia Dzielińska1ABCDEF, Maria Franaszczyk2BCDEG, Izabela Wojtkowska3ABCD, Jan Henzel1BCDEF, Mateusz Śpiewak4BD, Janina Stępińska3AD, Zofia T. Bilińska5ADEFG*, Rafał Płoski6DEFG, Marcin Demkow1ADE
Am J Case Rep 2018; 19:820-824
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.
Keywords: Cardiomyopathy, Dilated, Frameshift Mutation, Heart Failure, Pregnancy Complications, Cardiovascular
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