Tetralogy of Fallot with Ascending Aortic Aneurysm
Tetralogy of Fallot is the most common complex congenital disorder affecting approximately 1 in 2500 live births. It is characterized by a ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and an overriding aorta. Corrective surgery restores proper cardiac circulation but a subset of these patients, despite having received ideal surgical repair, still develop large ascending aortic aneurysms later in life. Through genetic analysis of affected patients, we hope to better understand the molecular basis behind tetralogy of Fallot with ascending aortic aneurysm.
Holm TM, Habashi JP, Doyle JJ, Bedja D, Chen Y, van Erp C, Lindsay ME, Kim D, Schoenhoff F, Cohn RD, Loeys BL, Thomas CJ, Patnaik S, Marugan JJ, Judge DP, Dietz HC. Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science. 2011 Apr 15;332(6027):358-61. doi: 10.1126/science.1192149.PMID:21493862