Key result
A markedly elevated rate of rare, heterogeneous copy number variants of uncertain clinical significance was observed in 42% (12/28) of women with earthquake-induced stress cardiomyopathy.
Why the study?
Is there an underlying genetic predisposition, such as copy number variants, in women who suffered earthquake-induced stress cardiomyopathy?
Observational (n=28)
No
Is there an underlying genetic predisposition, such as copy number variants, in women who suffered earthquake-induced stress cardiomyopathy?
Absolute Event Rate: 42% vs 28.3%
p-value: p=<0.02
Stress cardiomyopathy predisposition may be associated with a high rate of rare copy number variants impacting cardiac function and development pathways.
Suggests a potential genetic predisposition to stress cardiomyopathy; leaves open whether these variants are causal, remaining.
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 elevated rate of rare, heterogeneous copy number variants (CNV) of uncertain clinical significance (in 12/28 subjects). Several of these CNVs impacted on genes of cardiac relevance including RBFOX1, GPC5, KCNRG, CHODL, and GPBP1L1. There is no physical overlap between the CNVs, and the genes they impact do not appear to be functionally related. The recognition that SCM predisposition may be associated with a high rate of rare CNVs offers a novel perspective on this enigmatic condition.
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Lacey et al. (2018) conducted an observational in Earthquake-induced stress cardiomyopathy (n=28). Rare copy number variants (CNVs) vs. Clinical aCGH testing cohorts was evaluated on Presence of rare, heterogeneous copy number variants (CNVs) of uncertain clinical significance (p=<0.02). A markedly elevated rate of rare, heterogeneous copy number variants of uncertain clinical significance was observed in 42% (12/28) of women with earthquake-induced stress cardiomyopathy.
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