Cardiomyopathy and Preeclampsia

• DOI: 10.1161/circulationaha.117.031527
• Publication Date: 2018-07-18T12:06:12Z
• Authors: Hilary S. Gammill; Rakesh Chettier; Alina Brewer; James M. Roberts; Raj Shree; Eleni Tsigas; Kenneth Ward
• Keywords: Peripartum Cardiomyopathy; Exome

Preeclampsia is associated with diastolic dysfunction, peripartum cardiomyopathy, and both pre-existing subsequent maternal cardiovascular disease. Gene mutations causing idiopathic cardiomyopathy were recently implicated in cardiomyopathy. We sought to determine whether gene are also a contributory factor preeclampsia.Subjects participants The Registry Biobank. After providing informed consent, subjects history of preeclampsia completed detailed questionnaire provided medical records for diagnostic confirmation. Saliva samples collected DNA isolation. Whole exome sequencing was performed detect rare variants (minor allele frequency <0.1%) 43 genes Missense deemed damaging missense if so classified by any 7 standard function prediction algorithms. Variants defined as loss-of-function they caused stop-gain, splicing, or frame-shift insertion deletion. Results compared data from 2 control groups: unrelated women gynecologic disorder sequenced using the same methods instruments (n=530) well published variant 33 000 Exome Aggregation Consortium. not excluded groups.Of 181 confirmed preeclampsia, 96% white. Seventy-two percent had ≥1 preterm delivery <37 weeks. Among subjects, whole demonstrated 10 228 considered. prevalence these significantly higher (5.5%) local (2.5%) population ( P=0.014). Sixty-eight carried (mean 1.94 mutations). As seen most (55%) found TTN gene. Seventy-three cohort versus 48% controls P=1.36E-11).Women who develop more likely carry protein-altering particularly TTN. Mutations promoting prevalent important risk factors widening spectrum disorders. Detecting should allow specific diagnosis, classification, counseling, management at risk.