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Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy.


ABSTRACT: The pathophysiology of stress cardiomyopathy (SCM), also known as takotsubo syndrome, is poorly understood. SCM usually occurs sporadically, often in association with a stressful event, but clusters of cases are reported after major natural disasters. There is some evidence that this is a familial condition. We have examined three possible models for an underlying genetic predisposition to SCM. Our primary study cohort consists of 28 women who suffered SCM as a result of two devastating earthquakes that struck the city of Christchurch, New Zealand, in 2010 and 2011. To seek possible underlying genetic factors we carried out exome analysis, genotyping array analysis, and array comparative genomic hybridization on these subjects. The most striking finding was the observation of a markedly el

SUBMITTER: Lacey CJ 

PROVIDER: S-EPMC5954162 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature