Influence of Genetics and Gender in Takotsubo Syndrome: Unexplored Areas of an Incompletely Understood Disease

Author:

Longobardo Luca1,Zito Concetta1,Carerj Scipione1,Caracciolo Giuseppe2,Khandheria Bijoy K.234

Affiliation:

1. Department of Clinical and Experimental Medicine, Section of Cardiology, University of Messina, Messina, Italy.

2. Aurora Cardiovascular Services, Aurora Sinai/Aurora St. Luke's Medical Centers, Milwaukee, Wisconsin.

3. Department of Medicine, University of Wisconsin School of Medicine and Public Health, Milwaukee, Wisconsin.

4. Marcus Family Fund for Echocardiography (ECHO) Research and Education, Milwaukee, Wisconsin.

Abstract

Stress cardiomyopathy, also known as “Takotsubo syndrome” (TS), is a complex disease that typically affects postmenopausal women. The pathophysiology is still largely unknown, but evidence of a frequent association between TS and stressful events has evoked the hypothesis of a pathophysiologic role of sympathetic overdrive in the myocardial dysfunction. However, despite several studies, the role gender plays in TS onset remains unclear because stress cardiomyopathy also has been described in young women and in men. Moreover, although several cases of a familial cluster of TS have been reported, no responsible gene mutations or polymorphisms have been clearly identified so far, and neither the modality of transmission or the true impact of genetic background. In this review, we discuss the role of gender in the onset, course, and outcomes of TS and we report the available data about polymorphisms and gene mutations so far investigated, trying to critically analyze the evidence reported in the literature.

Publisher

The Foundation for Gender-Specific Medicine, Inc.

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