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Human Genetics of Tricuspid Atresia and Univentricular Heart

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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

Tricuspid atresia (TA) is a rare congenital heart condition that presents with a complete absence of the right atrioventricular valve. Because of the rarity of familial and/or isolated cases of TA, little is known about the potential genetic abnormalities contributing to this condition. Potential responsible chromosomal abnormalities were identified in exploratory studies and include deletions in 22q11, 4q31, 8p23, and 3p as well as trisomies 13 and 18. In parallel, potential culprit genes include the ZFPM2, HEY2, NFATC1, NKX2-5, MYH6, and KLF13 genes. The aim of this chapter is to expose the genetic components that are potentially involved in the pathogenesis of TA in humans. The large variability in phenotypes and genotypes among cases of TA suggests a genetic network that involves many components yet to be unraveled.

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Author information

Authors and Affiliations

  1. Faculty of Medicine, American University of Beirut, Beirut, Lebanon

    Abdul-Karim Sleiman, Liane Sadder & George Nemer

  2. College of Health and Life Sciences, Hamad bin Khalifa University, Doha, Qatar

    George Nemer

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  1. Abdul-Karim Sleiman
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  2. Liane Sadder
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  3. George Nemer
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Correspondence to George Nemer .

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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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Sleiman, AK., Sadder, L., Nemer, G. (2024). Human Genetics of Tricuspid Atresia and Univentricular Heart. 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_54

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