What is it about?
Large natural disasters are well known to trigger clusters of stress-induced "heart attacks" (called stress cardiomyopathy, and often referred to as "broken heart syndrome"). These events occur within hours or days of the disaster, and while they can be fatal, if properly managed the patients recover well. It is a mysterious disorder that affects mainly post-menopausal women. There are many examples of sibling-sibling and mother-daughter cases of the condition, and it can be recurrent, suggesting underlying biological (genetic) risk factors. We examined possible genetic factors in 28 women who suffered broken heart syndrome in the immediate aftermath of two major earthquakes that caused massive damage to the city of Christchurch, New Zealand, in 2010 and 2011. Our most striking finding was the observation of large deletions or duplications of DNA (copy number variation, or CNV) in the genomes of these women. These CNVs were much more common than than would be expected by chance, and they often spanned or were located close to genes that influence heart or muscle function. None of the patients had the same pattern of CNV.
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Why is it important?
We do not understand this disease, although there is a suspicion that genetics may play a role. We describe the novel observation of a high rate of large, rare copy number variations in the genomes of people who suffered this condition after the Christchurch earthquakes. This observation may stimulate further studies of such genetic factors in other people who suffer stress cardiomyopathy, and perhaps this will lead to an improved understanding of this perplexing and intriguing condition.
Perspectives
Very few opportunities exist to study disaster-induced stress cardiomyopathy in detail. We were fortunate that Christchurch hospital continued to function and operate through a series of major earthquakes that devastated the city and killed many people. Our cardiology team was quick to recognize the opportunity to study stress cardiomyopathy, and to track and consent patients for study. We searched for possible genetic factors using techniques including whole exome sequencing and gene chip analysis, but it was only when we applied a method for detecting large genomic deletions or duplications that we made the surprising discovery that forms the basis of this paper. We hope this observation stimulates further work, and helps lead us to a more satisfactory understanding of this very unusual and potentially lethal condition.
Martin Kennedy
University of Otago
Read the Original
This page is a summary of: Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy, Scientific Reports, May 2018, Springer Science + Business Media,
DOI: 10.1038/s41598-018-25827-5.
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Resources
Genomes, earthquakes and broken hearts
Powerpoint of presentation by Prof M A Kennedy, at the Queenstown Research Week, New Zealand. Sept 2015.
CTG-repeat expansions in the DMPK gene do not cause takotsubo syndrome
Takotsubo syndrome (TTS) and myotonic dystrophy type 1 (MD1) are seemingly unrelated conditions. However we have noted remarkable similarities between two cases reported separately. What is of particular interest is that not only did each patient have both conditions, they had identical unusual complications from their TTS. In each case the TTS was complicated by torsades de pointes and during coronary angiography both patients required defibrillation.
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