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

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.

Familial risk of myocardial infarction with non-obstructive and obstructive coronary arteries-A nation-wide cohort study

“…In SCAD, genomewide association studies have identified genetic risk variants, however studies have been small and results conflicting (24). In takotsubo syndrome, reports of familial cases, high recurrence rates and case reports of patients with rare genetic syndromes supports a familial component (25)(26)(27). The lack of evidence of a family history of a MINOCA in our study is not proof of absence of a family history of MINOCA but could be a result of limitations in the study design, including sample size and selection.…”