Article
Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.
Circulation - 11 May 2021
Goli Rahul, Li Jian, Brandimarto Jeff, Levine Lisa D, Riis Valerie, McAfee Quentin, DePalma Steven, Haghighi Alireza, Seidman J G, Seidman Christine E, Jacoby Daniel, Macones George, Judge Daniel P, Rana Sarosh, Margulies Kenneth B, Cappola Thomas P, Alharethi Rami, Damp Julie, Hsich Eileen, Elkayam Uri, Sheppard Richard, Alexis Jeffrey D, Boehmer John, Kamiya Chizuko, Gustafsson Finn, Damm Peter, Ersbøll Anne S, Goland Sorel, Hilfiker-Kleiner Denise, McNamara Dennis M, Arany Zolt
Abstract excerpt
BACKGROUND: Peripartum cardiomyopathy (PPCM) occurs in ≈1:2000 deliveries in the United States and worldwide. The genetic underpinnings of PPCM remain poorly defined. Approximately 10% of women with PPCM harbor truncating variants in TTN (TTNtvs). Whether mutations in other genes can predispose to PPCM is not known. It is also not known if the presence of TTNtvs predicts clinical presentation or outcomes. Nor is...
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