Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation
Karolina E. Kryczka, Zofia Dzielińska, Maria Franaszczyk, Izabela Wojtkowska, Jan Henzel, Mateusz Śpiewak, Janina Stępińska, Zofia T. Bilińska, Rafał Płoski, Marcin Demkow
Department of Coronary and Structural Heart Diseases, Institute of Cardiology, Warsaw, Poland
Am J Case Rep 2018; 19:820-824
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