Human Genetics of Hypoplastic Left Heart Syndrome

Nov 21, 2016 by in CARDIOLOGY Comments Off on Human Genetics of Hypoplastic Left Heart Syndrome

© Springer-Verlag Wien 2016Silke Rickert-Sperling, Robert G. Kelly and David J. Driscoll (eds.)Congenital Heart Diseases: The Broken Heart10.1007/978-3-7091-1883-2_56 56. Human Genetics of Hypoplastic Left Heart Syndrome Woodrow D. Benson1   (1) Department of Pediatrics, Herma Heart Center, Children’s Hospital…

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Human Genetics of Ebstein Anomaly

Nov 21, 2016 by in CARDIOLOGY Comments Off on Human Genetics of Ebstein Anomaly

Chromosomal disorder Number of patients reported Proven or suspected causal gene(s) References Deletion 1p36 9 DVL1, SKI, RERE, PDPN, SPEN, CLCNKA, ECE1, HSPG2, LUZP1, WASF2, PRDM16, PRKCZ, UBE4B, MASP2 [12,…

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Clinical Presentation and Therapy of Ebstein Anomaly

Nov 21, 2016 by in CARDIOLOGY Comments Off on Clinical Presentation and Therapy of Ebstein Anomaly

Fig. 52.1 Pathologic specimen of Ebstein anomaly (left) and echocardiographic image (right). The septal leaflet is plastered against the septum (failure of delamination), and the anterior leaflet is markedly enlarged…

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Human Genetics of Truncus Arteriosus

Nov 21, 2016 by in CARDIOLOGY Comments Off on Human Genetics of Truncus Arteriosus

Fig. 47.1 Cellular and molecular basis for normal and abnormal outflow tract development of the heart. The interaction of progenitor cells derived from the second heart field (SHF cells) and…

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