Why the study?
Do truncating variants in TTN and other cardiomyopathy genes affect clinical presentation and outcomes in women with peripartum cardiomyopathy?
Population
469 women with peripartum cardiomyopathy (PPCM) from US and international academic centers
Comparison
Next-generation sequencing of 67 genes to… vs Reference population and women without TTN…
Design
Cohort
Key result
Truncating variants in TTN were significantly more prevalent in women with peripartum cardiomyopathy compared to a reference population (10.4% vs 1.2%; OR 9.4, P=1.2x10^-46).
Authors
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TTN variants may identify higher-risk peripartum cardiomyopathy; extends genetic overlap with dilated cardiomyopathy but leaves outcomes unresolved.
Observational (n=469)
Yes
Do truncating variants in TTN and other cardiomyopathy genes affect clinical presentation and outcomes in women with peripartum cardiomyopathy?
Peripartum cardiomyopathy shares significant genetic overlap with nonischemic dilated cardiomyopathy, and the presence of TTN truncating variants is associated with a lower ejection fraction at presentation.
Odds Ratio: 9.4
Absolute Event Rate: 10.4% vs 1.2%
p-value: p=1.2x10^-46
Goli et al. (2021) conducted an observational in Peripartum cardiomyopathy (n=469). Truncating variants in TTN (TTNtvs) vs. Reference population was evaluated on Presence of TTN truncating variants (TTNtvs) (OR 9.4, p=1.2x10^-46). Truncating variants in TTN were significantly more prevalent in women with peripartum cardiomyopathy compared to a reference population (10.4% vs 1.2%; OR 9.4, P=1.2x10^-46).