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Similar genetic properties found in peripartum, dilated cardiomyopathies
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Researchers found that genetic variants associated with idiopathic dilated cardiomyopathy were similarly distributed in women with peripartum cardiomyopathy.
In both disorders, the most prevalent genetic predisposition was truncating variants found in the TTN gene, they wrote in The New England Journal of Medicine.
According to the study background, idiopathic dilated cardiomyopathy is caused by mutations in more than 40 genes, one of which is TTN, responsible for encoding the sarcomere protein titin. Because peripartum cardiomyopathy shares some of the same clinical features as idiopathic dilated cardiomyopathy, the researchers investigated whether the two conditions share the same genetic characteristics.
James S. Ware, PhD, MRCP, from Brigham and Women’s Hospital and Imperial College London, and colleagues sequenced 43 genes known to have variants associated with dilated cardiomyopathy in 172 women with peripartum cardiomyopathy.
They compared the prevalence of different variant types in those women with those in people with dilated cardiomyopathy (n = 332) and in a population-based control group (n = 60,706).
Ware and colleagues identified 26 truncating variants in eight genes in the women with peripartum cardiomyopathy. The prevalence of those variants was higher in those with peripartum cardiomyopathy than in the control group (15% vs. 4.7%; P = 1.3 x 10-7) but similar in those with peripartum cardiomyopathy and those with dilated cardiomyopathy (15% vs. 17%; P = .81), they found.
Of those variants, two-thirds were in TTN, TTN variants occurred in 10% of the peripartum cardiomyopathy group vs. 1.4% of controls (P = 2.7 x 10-10), and most of the TTN variants were in the titin A-band, the researchers wrote.
Of the TTN variants, seven of them had been previously reported in patients with dilated cardiomyopathy, they wrote.
They also found that among 83 women with peripartum cardiomyopathy from the IPAC study, those with TTN truncating variants were more likely to have reduced left ventricular ejection fraction at 1 year (P = .005).
“Since a gene-based diagnosis is clinically available for dilated cardiomyopathy, it is plausible that the same genetic diagnosis could be used for peripartum cardiomyopathy with similar sensitivity and specificity,” Ware and colleagues wrote. “However, further study is needed to understand the penetrance of variants identified in the context of peripartum cardiomyopathy.” – by Erik Swain
Disclosure: Ware reports no relevant financial disclosures. See the full study for a list of the other researchers’ relevant financial disclosures.
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