Functional Genetics of Peripartum Cardiomyopathy
Abstract
Peripartum cardiomyopathy (PPCM) is marked by loss of cardiac contractile function in women late in pregnancy orsoon after delivery. PPCM affects approximately 1:1000 births worldwide, and frequently leads to chronic heartfailure, cardiac transplantation, or death. Our proposal is focused on understanding how mutations in TTNpredispose to PPCM.Aim 1: Human genetics: we have collated a cohort of >600 clinically annotated women with PPCM, and haveperformed deep sequencing of the TTN gene, followed by detailed phenotype/genotype correlations, includingevaluation of correlation between TTN mutations and severity of disease on presentation, and recovery fromPPCM. We will be submitting a manuscript describing this work in the next few weeks. We have also analyzed theUPenn and Geisinger Biobank data sets of >70,000 exomes for TTN truncating variants, and concluded thatsurprisingly large number of people carry these variants without having PPCM or other dilated cardiomyopathy.This work was published in Circulation in April of last year.
Document Details
- Document Type
- Technical Report
- Publication Date
- Sep 01, 2020
- Accession Number
- AD1112042
Entities
People
- Zoltan Arany
Organizations
- University of Pennsylvania