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Functional Genetics of Peripartum Cardiomyopathy

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[Technical Report, Annual Report]

Corporate Author:

University of Pennsylvania

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Peripartum cardiomyopathy PPCM is marked by loss of cardiac contractile function in women late in pregnancy orsoon after delivery. PPCM affects approximately 11000 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 phenotypegenotype 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.

Subject Categories:

  • Medicine and Medical Research

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[A, Approved For Public Release]