Surgical Treatment of Patients Enrolled in the National Registry of Genetically Triggered Thoracic Aortic Conditions

doi:10.1016/j.athoracsur.2009.04.034

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Original Articles: Adult Cardiac

Surgical Treatment of Patients Enrolled in the National Registry of Genetically Triggered Thoracic Aortic Conditions

Howard K. Song, MD, PhD^a^,_*, Joseph E. Bavaria, MD^b, Mark W. Kindem, MS^c, Kathryn W. Holmes, MD^d, Dianna M. Milewicz, MD, PhD^e, Cheryl L. Maslen, PhD^a, Reed E. Pyeritz, MD, PhD^b, Craig T. Basson, MD, PhD^f, Kim Eagle, MD^g, H. Eser Tolunay, PhD^h, Barbara L. Kroner, PhD^c, Hal Dietz, MD, PhD^d, Victor Menashe, MD^a, Richard B. Devereux, MD^f, Patrice Desvigne-Nickens, MD^h, William Ravekes, MD^d, Jonathan W. Weinsaft, MD^f, Donald Brambilla, PhD^c, Mario P. Stylianou, PhD^h, Tabitha Hendershot, BA^c, Megan S. Mitchell, MPH^h, Scott A. LeMaire, MDⁱ National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium

^a Oregon Health and Science University, Portland, Oregon
^b University of Pennsylvania, Philadelphia, Pennsylvania
^c RTI International, Rockville, Maryland
^d Johns Hopkins University, Baltimore, Maryland
^h National Heart, Lung, and Blood Institute, Bethesda, Maryland
^e University of Texas, Houston, Texas
ⁱ Baylor College of Medicine and the Texas Heart Institute at St. Luke's Episcopal Hospital, Houston, Texas
^f Weill Cornell Medical College, New York, New York
^g University of Michigan, Ann Arbor, Michigan

Accepted for publication April 8, 2009.

^_* Address correspondence to Dr Song, Division of Cardiothoracic Surgery, Oregon Health and Science University, Mail Code L353, 3181 SW Sam Jackson Park Rd, Portland, OR 97239 (Email: songh{at}ohsu.edu).

Presented at the Forty-fifth Annual Meeting of The Society of Thoracic Surgeons, San Francisco, CA, Jan 26–28, 2009.

Background: Genetic disorders are an important cause of thoracic aorticaneurysms (TAAs) in young patients. Despite advances in thetreatment of genetically triggered TAAs, the optimal syndrome-specifictreatment approach remains undefined. We used data from theNational Institutes of Health–funded, multicenter NationalRegistry of Genetically Triggered Thoracic Aortic Aneurysmsand Cardiovascular Conditions (GenTAC) to characterize the contemporarysurgical treatment of patients with genetically triggered TAAs.

Methods: GenTAC's aim is to collect longitudinal clinical data and bankedbiospecimens from 2800 patients with genetically triggered TAAs.We analyzed data from the 606 patients (mean age, 37.5 years)enrolled in GenTAC to date whose clinical data were available.

Results: The patients' primary diagnoses included Marfan syndrome (35.8%),bicuspid aortic valve with aneurysm (29.2%), and familial TAAsand dissections (10.7%). Of these, 56.4% had undergone at leastone operation; the most common indications were aneurysm (85.7%),valve dysfunction (65.8%), and dissection (25.4%). Surgicalprocedures included replacement of the aortic root (50.6%),ascending aorta (64.8%), aortic arch (27.9%), and descendingor thoracoabdominal aorta (12.4%). Syndrome-specific differencesin age, indications for operation, and procedure type were identified.

Conclusions: Patients with genetically transmitted TAAs evaluated in tertiarycare centers frequently undergo surgical repair. Aneurysm repairsmost commonly involve the aortic root and ascending aorta; distalrepairs are less common. Like TAAs themselves, complicationsof TAAs, including dissection and aortic valve dysfunction,are important indications for intervention. Future studies willfocus on syndrome- and gene-specific phenotypes, biomarkers,treatments, and outcomes to improve the treatment of patientswith TAAs.