Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions.
BACKGROUND
Genetic disorders are an important cause of thoracic aortic aneurysms (TAAs) in young patients. Despite advances in the treatment of genetically triggered TAAs, the optimal syndrome-specific treatment approach remains undefined. We used data from the National Institutes of Health-funded, multicenter National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) to characterize the contemporary surgical treatment of patients with genetically triggered TAAs.


METHODS
GenTAC's aim is to collect longitudinal clinical data and banked biospecimens 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 TAAs and dissections (10.7%). Of these, 56.4% had undergone at least one operation; the most common indications were aneurysm (85.7%), valve dysfunction (65.8%), and dissection (25.4%). Surgical procedures included replacement of the aortic root (50.6%), ascending aorta (64.8%), aortic arch (27.9%), and descending or thoracoabdominal aorta (12.4%). Syndrome-specific differences in age, indications for operation, and procedure type were identified.


CONCLUSIONS
Patients with genetically transmitted TAAs evaluated in tertiary care centers frequently undergo surgical repair. Aneurysm repairs most commonly involve the aortic root and ascending aorta; distal repairs are less common. Like TAAs themselves, complications of TAAs, including dissection and aortic valve dysfunction, are important indications for intervention. Future studies will focus on syndrome- and gene-specific phenotypes, biomarkers, treatments, and outcomes to improve the treatment of patients with TAAs.
Song
Howard K
HK
Song, Division of Cardiothoracic Surgery, Oregon Health and Science University, Portland, Oregon 97239, USA. songh@ohsu.edu
Bavaria
Joseph E
JE
Kindem
Mark W
MW
Holmes
Kathryn W
KW
Milewicz
Dianna M
DM
Maslen
Cheryl L
CL
Pyeritz
Reed E
RE
Basson
Craig T
CT
Eagle
Kim
K
Tolunay
H Eser
HE
Kroner
Barbara L
BL
Dietz
Hal
H
Menashe
Victor
V
Devereux
Richard B
RB
Desvigne-Nickens
Patrice
P
Ravekes
William
W
Weinsaft
Jonathan W
JW
Brambilla
Donald
D
Stylianou
Mario P
MP
Hendershot
Tabitha
T
Mitchell
Megan S
MS
LeMaire
Scott A
SA
D000293:Adolescent; D000328:Adult; D000784:Aortic Dissection / Q000235:genetics / Q000601:surgery; D001013:Aorta, Thoracic / Q000601:surgery*; D017545:Aortic Aneurysm, Thoracic / Q000235:genetics / Q000601:surgery; D001018:Aortic Diseases / Q000235:genetics* / Q000601:surgery*; D001021:Aortic Valve / Q000002:abnormalities / Q000601:surgery; D019917:Blood Vessel Prosthesis Implantation; D005260:Female; D006785:Hospitals, University; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics / Q000601:surgery; D008875:Middle Aged; D015337:Multicenter Studies as Topic; D011183:Postoperative Complications / Q000601:surgery; D012042:Registries; D012086:Reoperation; D013577:Syndrome; D014481:United States; D055815:Young Adult
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