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Human Genetics of Truncus Arteriosus

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Congenital Heart Diseases: The Broken Heart

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1441))

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Abstract

Integrated human genetics and molecular/developmental biology studies have revealed that truncus arteriosus is highly associated with 22q11.2 deletion syndrome. Other congenital malformation syndromes and variants in genes encoding TBX, GATA, and NKX transcription factors and some signaling proteins have also been reported as its etiology.

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Author information

Authors and Affiliations

  1. Division of Pediatric Cardiology, Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

    Hiroyuki Yamagishi

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  1. Hiroyuki Yamagishi
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Correspondence to Hiroyuki Yamagishi .

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Editors and Affiliations

  1. Cardiovascular Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany

    Silke Rickert-Sperling

  2. Developmental Biology, Institut de Biologie du Dévelopment de Marseille, Aix Marseille Université, Marseille, France

    Robert G. Kelly

  3. LMU Ludwig Maximilian University, Klinikum der Universität München, München, Bayern, Germany

    Nikolaus Haas

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Yamagishi, H. (2024). Human Genetics of Truncus Arteriosus. In: Rickert-Sperling, S., Kelly, R.G., Haas, N. (eds) Congenital Heart Diseases: The Broken Heart. Advances in Experimental Medicine and Biology, vol 1441. Springer, Cham. https://doi.org/10.1007/978-3-031-44087-8_51

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