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Molecular Pathways and Animal Models of Hypoplastic Left Heart Syndrome

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Congenital Heart Diseases: The Broken Heart

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Abstracts

Hypoplastic left heart syndrome (HLHS) is a rare and severe defect in which the structures of the left side of the heart are severely underdeveloped. Only a very small minority of HLHS cases can currently be explained. This review summarizes how growth of the left-sided structures of the heart is initiated very early during development and which mechanisms could be defective in HLHS. Numerous cascades driving development of ventricular cardiomyocytes have been described and are put into perspective. Current genetic, epigenetic, and hemodynamic concepts in HLHS pathogenesis are discussed in the context of both animal and human models of impaired growth of left-sided structures of the heart. Understanding the contribution of these factors may be crucial for stratification of therapeutic interventions in HLHS.

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Acknowledgments

GA is funded by the Fonds de Recherche en Santé du Québec, the Canadian Institutes of Health Research, Foundation Nussia and André Aisenstadt, Fondation GO and Fondation Leducq. He holds the Banque Nationale Research Chair in Cardiovascular Genetics.

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  1. Cardiovascular Genetics, Department of Pediatrics, CHU Sainte Justine, Université de Montréal, Montréal, QC, Canada

    Florian Wünnemann & Gregor U. Andelfinger

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  1. Florian Wünnemann
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  2. Gregor U. Andelfinger
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Correspondence to Gregor U. Andelfinger .

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

    Silke Rickert-Sperling

  2. Developmental Biology, Inst. of Marseilles, Aix-Marseille Univ. , Marseille, France

    Robert G. Kelly

  3. Dpt. of Pediatrics Div.of Pediatric Card, Mayo Clinic College of Medicine, Rochester, Minnesota, USA

    David J. Driscoll

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Wünnemann, F., Andelfinger, G.U. (2016). Molecular Pathways and Animal Models of Hypoplastic Left Heart Syndrome. In: Rickert-Sperling, S., Kelly, R., Driscoll, D. (eds) Congenital Heart Diseases: The Broken Heart. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1883-2_57

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