5 tbx5 holtoram syndrome hos an autosomal dominant

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Unformatted text preview: extends from the cushion •  Permits oxygen ­rich blood to pass from right to led •  Septum secundum, a thick muscular membrane descends from roof of atrium 7 4/23/13 Atrial SeptaLon – Foramen ovale •  Septum secundum conLnues to develop •  Foramen ovale allows oxygenated blood to flow from RA to LA, higher pressure in RA. •  Foramen ovale valve closes ader birth as pressure in LA increases as pulmonary circulaLon increases Atrial Septal Defects •  Various types –  OsLum secundum (most common)/ patent foramen ovale –  Endocardial cushion defect –  Sinus venosus defect –  Common atrium Genes Associated with Human Congenital Atrial Septal Defects •  Nkx2.5 •  Tbx5 [Holt ­Oram syndrome (HOS), an autosomal, dominant, highly penetrant disorder associated with malformaLons of the upper limb and congenital heart disease, most commonly ASD or ventricular septal defect (VSD)] •  GATA4 •  TBX20 Severe Atrial Septum Normal Secundum Defect (ASDII) Posch et al., Clin Res Cardiol. 2010 8 4/23/13 Ventricular SeptaLon •  •  Muscular interventricular septum (IVS) divides common ventricle IV foramen closes by the end of the 7th week Balooning and TrabeculaLon of Ventricular Walls •  •  Spongy muscular Lssue (Trabeculae) Bundles of mu...
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This document was uploaded on 04/09/2014.

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