Truncating Variant Prevalence Up in Peripartum Cardiomyopathy

Prevalence of 15 percent, similar to that seen in patients with dilated cardiomyopathy


FRIDAY, Jan. 8, 2016 (HealthDay News) -- Women with peripartum cardiomyopathy have a prevalence of truncating variants similar to that seen in patients with dilated cardiomyopathy, according to a study published online Jan. 6 in the New England Journal of Medicine.

James S. Ware, Ph.D., from Harvard Medical School in Boston, and colleagues sequenced 43 genes with variants that have been associated with dilated cardiomyopathy in 172 women with peripartum cardiomyopathy. The authors compared the prevalence of different variant types in these women with the prevalence in individuals with dilated cardiomyopathy, and with population controls.

Among the women with peripartum cardiomyopathy, the researchers identified 26 distinct, rare truncating variants in eight genes. The prevalence of truncated variants was similar to that seen in patients with dilated cardiomyopathy (15 versus 17 percent; P = 0.81), and was significantly higher than that seen in the reference population (15 versus 4.7 percent; P = 1.3 × 10−7). Two-thirds of truncating variants were identified in TTN; almost all were located in the titin A-band. Seven of the variants had been reported in patients with idiopathic dilated cardiomyopathy. The presence of TTN truncating variants correlated with lower ejection fraction at one-year follow-up in a cohort of 83 women with peripartum cardiomyopathy (P = 0.005).

"The distribution of truncating variants in a large series of women with peripartum cardiomyopathy was remarkably similar to that found in patients with idiopathic dilated cardiomyopathy," the authors write.

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