Congenital heart defects

Definition

Congenital heart defects are abnormal structural conditions of the heart, and/or large blood vessels, that are present at birth. Symptoms might not be apparent until later in life.

Latest Research and Reviews

  • Research |

    Exome sequencing of 2,871 probands with congenital heart disease (CHD) provides new insights into the genetic architecture of these disorders. The results implicate new genes in CHD pathogenesis and highlight striking overlap between genes with damaging de novo mutations in individuals with CHD and autism.

    • Sheng Chih Jin
    • , Jason Homsy
    • , Samir Zaidi
    • , Qiongshi Lu
    • , Sarah Morton
    • , Steven R DePalma
    • , Xue Zeng
    • , Hongjian Qi
    • , Weni Chang
    • , Michael C Sierant
    • , Wei-Chien Hung
    • , Shozeb Haider
    • , Junhui Zhang
    • , James Knight
    • , Robert D Bjornson
    • , Christopher Castaldi
    • , Irina R Tikhonoa
    • , Kaya Bilguvar
    • , Shrikant M Mane
    • , Stephan J Sanders
    • , Seema Mital
    • , Mark W Russell
    • , J William Gaynor
    • , John Deanfield
    • , Alessandro Giardini
    • , George A Porter Jr
    • , Deepak Srivastava
    • , Cecelia W Lo
    • , Yufeng Shen
    • , W Scott Watkins
    • , Mark Yandell
    • , H Joseph Yost
    • , Martin Tristani-Firouzi
    • , Jane W Newburger
    • , Amy E Roberts
    • , Richard Kim
    • , Hongyu Zhao
    • , Jonathan R Kaltman
    • , Elizabeth Goldmuntz
    • , Wendy K Chung
    • , Jonathan G Seidman
    • , Bruce D Gelb
    • , Christine E Seidman
    • , Richard P Lifton
    •  & Martina Brueckner
    Nature Genetics 49, 1593–1601
  • Research |

    Cecilia Lo and colleagues report the recovery of mice with hypoplastic left heart syndrome (HLHS) from a large mutagenesis screen. They find genetic heterogeneity among HLHS mice and functionally validate mutations in two genes, Sap130 and Pcdha, as contributing to HLHS in a combinatorial manner.

    • Xiaoqin Liu
    • , Hisato Yagi
    • , Shazina Saeed
    • , Abha S Bais
    • , George C Gabriel
    • , Zhaohan Chen
    • , Kevin A Peterson
    • , You Li
    • , Molly C Schwartz
    • , William T Reynolds
    • , Manush Saydmohammed
    • , Brian Gibbs
    • , Yijen Wu
    • , William Devine
    • , Bishwanath Chatterjee
    • , Nikolai T Klena
    • , Dennis Kostka
    • , Karen L de Mesy Bentley
    • , Madhavi K Ganapathiraju
    • , Phillip Dexheimer
    • , Linda Leatherbury
    • , Omar Khalifa
    • , Anchit Bhagat
    • , Maliha Zahid
    • , William Pu
    • , Simon Watkins
    • , Paul Grossfeld
    • , Stephen A Murray
    • , George A Porter Jr
    • , Michael Tsang
    • , Lisa J Martin
    • , D Woodrow Benson
    • , Bruce J Aronow
    •  & Cecilia W Lo
    Nature Genetics 49, 1152–1159

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