Cardiovascular Outcomes in Aortopathy GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions

被引：23

作者：

Holmes, Kathryn W. ^{[1
]}

Markwardt, Sheila ^{[2
]}

Eagle, Kim A. ^{[3
]}

Devereux, Richard B. ^{[4
]}

Weinsaft, Jonathan W. ^{[4
]}

Asch, Federico M. ^{[5
]}

LeMaire, Scott A. ^{[6
,7
]}

Maslen, Cheryl L. ^{[8
]}

Song, Howard K. ^{[8
]}

Milewicz, Dianna M. ^{[9
]}

Prakash, Siddharth K. ^{[9
]}

Guo, Dongchuan ^{[9
]}

Morris, Shaine A. ^{[10
]}

Pyeritz, Reed E. ^{[11
]}

Milewski, Rita C. ^{[12
]}

Ravekes, William J. ^{[13
]}

Dietz, H. C. ^{[13
]}

Shohet, Ralph, V ^{[14
]}

Silberbach, Michael ^{[1
]}

Roman, Mary J. ^{[4
]}

机构：

[1] Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR 97239 USA

[2] Oregon Hlth & Sci Univ, Sch Publ Hlth, Portland, OR 97239 USA

[3] Univ Michigan Hlth Syst, Div Cardiol, Ann Arbor, MI USA

[4] Weill Cornell Med, Div Cardiol, New York, NY USA

[5] MedStar Cardiovasc Res Network, Washington, DC USA

[6] Baylor Coll Med, Div Cardiothorac Surg, Houston, TX 77030 USA

[7] Texas Heart Inst, Dept Cardiovasc Surg, Houston, TX 77025 USA

[8] Oregon Hlth & Sci Univ, Knight Cardiovasc Inst, Portland, OR 97239 USA

[9] Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USA

[10] Baylor Coll Med, Dept Pediat, Div Pediat Cardiol, Houston, TX 77030 USA

[11] Univ Penn, Perelman Sch Med, Dept Med, Philadelphia, PA 19104 USA

[12] Yale Sch Med, Div Cardiothorac Surg, New Haven, CT USA

[13] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

[14] John A Burns Sch Med, Dept Med, Honolulu, HI USA

来源：

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY | 2022年 / 79卷 / 21期

关键词：

aortic dissection; aortic aneurysm; bicuspid aortic valve; Loeys-Dietz; Marfan; nonsyndromic heritable aortic disease; Turner; vascular Ehlers-Danlos; NATIONAL REGISTRY; DISSECTION; MUTATIONS; TGFBR1;

D O I：

10.1016/j.jacc.2022.03.367

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

BACKGROUND The GenTAC (Genetically Triggered Thoracic Aortic Aneurysm and Cardiovascular Conditions) Registry enrolled patients with genetic aortopathies between 2007 and 2016. 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. 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. 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. 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. (C) 2022 by the American College of Cardiology Foundation.

引用

页码：2069 / 2081

页数：13

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