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 |

    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
  • Research | | open

    Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV and identify risk variants in the gene region of cardiac-specific transcription factor GATA4 and implicate GATA4 in heart valve development.

    • Bo Yang
    • , Wei Zhou
    • , Jiao Jiao
    • , Jonas B. Nielsen
    • , Michael R. Mathis
    • , Mahyar Heydarpour
    • , Guillaume Lettre
    • , Lasse Folkersen
    • , Siddharth Prakash
    • , Claudia Schurmann
    • , Lars Fritsche
    • , Gregory A. Farnum
    • , Maoxuan Lin
    • , Mohammad Othman
    • , Whitney Hornsby
    • , Anisa Driscoll
    • , Alexandra Levasseur
    • , Marc Thomas
    • , Linda Farhat
    • , Marie-Pierre Dubé
    • , Eric M. Isselbacher
    • , Anders Franco-Cereceda
    • , Dong-chuan Guo
    • , Erwin P. Bottinger
    • , G. Michael Deeb
    • , Anna Booher
    • , Sachin Kheterpal
    • , Y. Eugene Chen
    • , Hyun Min Kang
    • , Jacob Kitzman
    • , Heather J. Cordell
    • , Bernard D. Keavney
    • , Judith A. Goodship
    • , Santhi K. Ganesh
    • , Gonçalo Abecasis
    • , Kim A. Eagle
    • , Alan P. Boyle
    • , Ruth J. F. Loos
    • , Per Eriksson
    • , Jean-Claude Tardif
    • , Chad M. Brummett
    • , Dianna M. Milewicz
    • , Simon C. Body
    •  & Cristen J. Willer

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