Congenital heart defects

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 | | open

    Nuclear envelopathies are a group of diseases caused by genetic mutations in essential nuclear envelope genes. Here, the authors report a nuclear envelopathy with a homozygous nonsense variant in TOR1AIP1 which leads to changes in the nuclear morphology including large nuclear-spanning channels in patients’ fibroblasts.

    • Boris Fichtman
    • , Fadia Zagairy
    • , Nitzan Biran
    • , Yiftah Barsheshet
    • , Elena Chervinsky
    • , Ziva Ben Neriah
    • , Avraham Shaag
    • , Michael Assa
    • , Orly Elpeleg
    • , Amnon Harel
    •  & Ronen Spiegel
  • Research |

    • Alexander H. Li
    • , Neil A. Hanchard
    • , Mahshid Azamian
    • , Lisa C. A. D’Alessandro
    • , Zeynep Coban-Akdemir
    • , Keila N. Lopez
    • , Nancy J. Hall
    • , Heather Dickerson
    • , Annarita Nicosia
    • , Susan Fernbach
    • , Philip M. Boone
    • , Tomaz Gambin
    • , Ender Karaca
    • , Shen Gu
    • , Bo Yuan
    • , Shalini N. Jhangiani
    • , HarshaVardhan Doddapaneni
    • , Jianhong Hu
    • , Huyen Dinh
    • , Joy Jayaseelan
    • , Donna Muzny
    • , Seema Lalani
    • , Jeffrey Towbin
    • , Daniel Penny
    • , Charles Fraser
    • , James Martin
    • , James R. Lupski
    • , Richard A. Gibbs
    • , Eric Boerwinkle
    • , Stephanie M. Ware
    •  & John W. Belmont
  • Research |

    Individuals with biscuspid aortic valve and ascending aortic aneurysm show enrichment of rare variants in ROBO4. Functional studies suggest that ROBO4 mutations disrupt endothelial cell performance and contribute to pathological remodeling of aortic tissues.

    • Russell A. Gould
    • , Hamza Aziz
    • , Courtney E. Woods
    • , Manuel Alejandro Seman-Senderos
    • , Elizabeth Sparks
    • , Christoph Preuss
    • , Florian Wünnemann
    • , Djahida Bedja
    • , Cassandra R. Moats
    • , Sarah A. McClymont
    • , Rebecca Rose
    • , Nara Sobreira
    • , Hua Ling
    • , Gretchen MacCarrick
    • , Ajay Anand Kumar
    • , Ilse Luyckx
    • , Elyssa Cannaerts
    • , Aline Verstraeten
    • , Hanna M. Björk
    • , Ann-Cathrin Lehsau
    • , Vinod Jaskula-Ranga
    • , Henrik Lauridsen
    • , Asad A. Shah
    • , Christopher L. Bennett
    • , Patrick T. Ellinor
    • , Honghuang Lin
    • , Eric M. Isselbacher
    • , Christian Lacks Lino Cardenas
    • , Jonathan T. Butcher
    • , G. Chad Hughes
    • , Mark E. Lindsay
    • , David Valle
    • , Hua Ling
    • , James Lupski
    • , Harry C. Dietz
    • , Andrew S. McCallion
    • , Gregor Andelfinger
    • , Bart L. Loeys
    • , Lut Van Laer
    • , Per Eriksson
    • , Salah A. Mohamed
    • , Luc Mertens
    • , Anders Franco-Cereceda
    • , Seema Mital
    • , Luc Mertens
    • , Anders Franco-Cereceda
    • , Judith M. A. Verhagen
    • , Marja Wessels
    • , Salah A. Mohamed
    • , Per Eriksson
    • , Seema Mital
    • , Lut Van Laer
    • , Bart L. Loeys
    • , Gregor Andelfinger
    • , Andrew S. McCallion
    •  & Harry C. Dietz
    Nature Genetics 51, 42-50

News and Comment