Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions.
Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions.
- 2022
Available online from MWHC library: 1995 - present, Available in print through MWHC library:1999-2007
BACKGROUND: The GenTAC (Genetically Triggered Thoracic Aortic Aneurysm and Cardiovascular Conditions) Registry enrolled patients with genetic aortopathies between 2007 and 2016. CONCLUSIONS: Marfan and LDS cohorts demonstrate age and event profiles congruent with the current understanding of syndromic aortopathies. BAV events weigh toward elective replacement with relatively few dissection surgeries. Nonsyndromic HTAD patients experience near equal probability of dissection vs prophylactic surgery, possibly because of failure of early diagnosis. Copyright © 2022 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. METHODS: The GenTAC study had a retrospective/prospective design. Participants with bicuspid aortic valve (BAV) with aneurysm (n = 879), Marfan syndrome (MFS) (n = 861), nonsyndromic heritable thoracic aortic disease (nsHTAD) (n = 378), Turner syndrome (TS) (n = 298), vascular Ehlers-Danlos syndrome (vEDS) (n = 149), and Loeys-Dietz syndrome (LDS) (n = 121) were analyzed. OBJECTIVES: The purpose of this study was to compare age distribution and probability of elective surgery for proximal aortic aneurysm, any dissection surgery, and cardiovascular mortality among aortopathy etiologies. RESULTS: The 25% probability of elective proximal aortic aneurysm surgery was 30 years for LDS (95% CI: 18-37 years), followed by MFS (34 years; 95% CI: 32-36 years), nsHTAD (52 years; 95% CI: 48-56 years), and BAV (55 years; 95% CI: 53-58 years). Any dissection surgery 25% probability was highest in LDS (38 years; 95% CI: 33-53 years) followed by MFS (51 years; 95% CI: 46-57 years) and nsHTAD (54 years; 95% CI: 51-61 years). BAV experienced the largest relative frequency of elective surgery to any dissection surgery (254/33 = 7.7), compared with MFS (273/112 = 2.4), LDS (35/16 = 2.2), or nsHTAD (82/76 = 1.1). With MFS as the reference population, risk of any dissection surgery or cardiovascular mortality was lowest in BAV patients (HR: 0.13; 95% CI: 0.08-0.18; HR: 0.13; 95%: CI: 0.06-0.27, respectively). The greatest risk of mortality was seen in patients with vEDS.
English
0735-1097
10.1016/j.jacc.2022.03.367 [doi] S0735-1097(22)04632-0 [pii]
*Aneurysm, Dissecting
*Bicuspid Aortic Valve Disease
*Ehlers-Danlos Syndrome
*Loeys-Dietz Syndrome
*Marfan Syndrome
Aneurysm, Dissecting/ep [Epidemiology]
Aneurysm, Dissecting/ge [Genetics]
Aneurysm, Dissecting/su [Surgery]
Ehlers-Danlos Syndrome/co [Complications]
Humans
Loeys-Dietz Syndrome/co [Complications]
Loeys-Dietz Syndrome/ep [Epidemiology]
Loeys-Dietz Syndrome/ge [Genetics]
Marfan Syndrome/co [Complications]
Marfan Syndrome/ge [Genetics]
Marfan Syndrome/su [Surgery]
Prospective Studies
Registries
Retrospective Studies
MedStar Heart & Vascular Institute
Journal Article
Available online from MWHC library: 1995 - present, Available in print through MWHC library:1999-2007
BACKGROUND: The GenTAC (Genetically Triggered Thoracic Aortic Aneurysm and Cardiovascular Conditions) Registry enrolled patients with genetic aortopathies between 2007 and 2016. CONCLUSIONS: Marfan and LDS cohorts demonstrate age and event profiles congruent with the current understanding of syndromic aortopathies. BAV events weigh toward elective replacement with relatively few dissection surgeries. Nonsyndromic HTAD patients experience near equal probability of dissection vs prophylactic surgery, possibly because of failure of early diagnosis. Copyright © 2022 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. METHODS: The GenTAC study had a retrospective/prospective design. Participants with bicuspid aortic valve (BAV) with aneurysm (n = 879), Marfan syndrome (MFS) (n = 861), nonsyndromic heritable thoracic aortic disease (nsHTAD) (n = 378), Turner syndrome (TS) (n = 298), vascular Ehlers-Danlos syndrome (vEDS) (n = 149), and Loeys-Dietz syndrome (LDS) (n = 121) were analyzed. OBJECTIVES: The purpose of this study was to compare age distribution and probability of elective surgery for proximal aortic aneurysm, any dissection surgery, and cardiovascular mortality among aortopathy etiologies. RESULTS: The 25% probability of elective proximal aortic aneurysm surgery was 30 years for LDS (95% CI: 18-37 years), followed by MFS (34 years; 95% CI: 32-36 years), nsHTAD (52 years; 95% CI: 48-56 years), and BAV (55 years; 95% CI: 53-58 years). Any dissection surgery 25% probability was highest in LDS (38 years; 95% CI: 33-53 years) followed by MFS (51 years; 95% CI: 46-57 years) and nsHTAD (54 years; 95% CI: 51-61 years). BAV experienced the largest relative frequency of elective surgery to any dissection surgery (254/33 = 7.7), compared with MFS (273/112 = 2.4), LDS (35/16 = 2.2), or nsHTAD (82/76 = 1.1). With MFS as the reference population, risk of any dissection surgery or cardiovascular mortality was lowest in BAV patients (HR: 0.13; 95% CI: 0.08-0.18; HR: 0.13; 95%: CI: 0.06-0.27, respectively). The greatest risk of mortality was seen in patients with vEDS.
English
0735-1097
10.1016/j.jacc.2022.03.367 [doi] S0735-1097(22)04632-0 [pii]
*Aneurysm, Dissecting
*Bicuspid Aortic Valve Disease
*Ehlers-Danlos Syndrome
*Loeys-Dietz Syndrome
*Marfan Syndrome
Aneurysm, Dissecting/ep [Epidemiology]
Aneurysm, Dissecting/ge [Genetics]
Aneurysm, Dissecting/su [Surgery]
Ehlers-Danlos Syndrome/co [Complications]
Humans
Loeys-Dietz Syndrome/co [Complications]
Loeys-Dietz Syndrome/ep [Epidemiology]
Loeys-Dietz Syndrome/ge [Genetics]
Marfan Syndrome/co [Complications]
Marfan Syndrome/ge [Genetics]
Marfan Syndrome/su [Surgery]
Prospective Studies
Registries
Retrospective Studies
MedStar Heart & Vascular Institute
Journal Article