International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium)

Circulation: Cardiovascular Genetics

Volumn 9, Issue 6, 2016, Pages 548-558

  Jondeau, Guillaume ^a,c,d   Ropers, Jacques ^e   Regalado, Ellen ^f   Braverman, Alan ^g   Evangelista, Arturo ^h   Teixedo, Guisela ^h   De Backer, Julie ⁱ   Muiño Mosquera, Laura ⁱ   Naudion, Sophie ^j   Zordan, Cecile ^j   Morisaki, Takayuki ^k   Morisaki, Hiroto ^k   Von Kodolitsch, Yskert ^l   Dupuis Girod, Sophie ^m   Morris, Shaine A ⁿ   Jeremy, Richmond ^o   Odent, Sylvie ^p   Adès, Leslie C ^q,r   Bakshi, Madhura ^q,r   Holman, Katherine ^q   Lemaire, Scott ⁿ   Milleron, Olivier ^a   Langeois, Maud ^a   Spentchian, Myrtille ^a   Aubart, Melodie ^a,c   Boileau, Catherine ^a,b,d   Pyeritz, Reed ^s   Milewicz, Dianna M ^f   more..

^a BICHAT HOSPITAL   (France)

^b Département de Génétique   (United States)

^c Site Xavier Bichat and Département Hospitalo Universitaire Fibrosis Inflammation and Remodeling   (United States)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e Unité de Recherche Clinique HU Paris Île de France Ouest   (France)

^f UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^g WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

ⁱ GHENT UNIVERSITY HOSPITAL   (Belgium)

^j HÔPITAL PELLEGRIN   (France)

^k NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^l UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^m HOSPICES CIVILS DE LYON   (France)

ⁿ BAYLOR COLLEGE OF MEDICINE   (United States)

^o ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^p RENNES UNIVERSITY HOSPITAL   (France)

^q CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^r UNIVERSITY OF SYDNEY   (Australia)

^s UNIVERSITY OF PENNSYLVANIA   (United States)

more..

Author keywords

acute aortic dissection gene; aneurysm; aortic disease; aortic dissection; aortic surgery; diagnostics; genetics; human; Marfan syndrome; peripheral vascular disease; sex differences

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; PROTEIN SERINE THREONINE KINASE; TGF-BETA TYPE I RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR-BETA TYPE II RECEPTOR;

ADULT; AORTA DISSECTION; AORTA ROOT; AORTA SURGERY; AORTIC ROOT SURGERY; ARTICLE; BODY SURFACE; CLINICAL FEATURE; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; HYPERTELORISM; MAJOR CLINICAL STUDY; MALE; PREGNANCY; PREVALENCE; PRIORITY JOURNAL; SURVIVAL RATE; AORTIC DISEASES; AUSTRALIA; CLINICAL TRIAL; DIAGNOSTIC IMAGING; EPIDEMIOLOGY; EUROPE; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; JAPAN; KAPLAN MEIER METHOD; MORTALITY; MULTICENTER STUDY; MUTATION; PHENOTYPE; PREGNANCY COMPLICATIONS, CARDIOVASCULAR; PROPORTIONAL HAZARDS MODEL; REGISTER; RETROSPECTIVE STUDY; RISK FACTOR; SEVERITY OF ILLNESS INDEX; THORACIC AORTA; TREATMENT OUTCOME; UNITED STATES; VASCULAR SURGERY;

AORTA, THORACIC; AORTIC DISEASES; AUSTRALIA; EUROPE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; JAPAN; KAPLAN-MEIER ESTIMATE; MALE; MUTATION; PHENOTYPE; PREGNANCY; PREGNANCY COMPLICATIONS, CARDIOVASCULAR; PREVALENCE; PROPORTIONAL HAZARDS MODELS; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; REGISTRIES; RETROSPECTIVE STUDIES; RISK FACTORS; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME; UNITED STATES; VASCULAR SURGICAL PROCEDURES;

EID: 85007271243     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.116.001485     Document Type: Article

References (22)

1. Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004;36:855-860. doi: 10.1038/ng1392.
2. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37:275-281. doi: 10.1038/ng1511.
3. Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 2005;112:513-520. doi: 10.1161/CIRCULATIONAHA.105.537340.
4. Attias D, Stheneur C, Roy C, Collod-Béroud G, Detaint D, Faivre L, et al. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation. 2009;120:2541-2549. doi: 10.1161/CIRCULATIONAHA.109.887042.
5. Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, et al. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat. 2006;27:760-769. doi: 10.1002/humu.20353.
6. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355:788-798. doi: 10.1056/NEJMoa055695.
7. Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE Jr, et al; American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American College of Radiology; American Stroke Association; Society of Cardiovascular Anesthesiologists; Society for Cardiovascular Angiography and Interventions; Society of Interventional Radiology; Society of Thoracic Surgeons; Society for Vascular Medicine. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation. 2010;121:e266-e369. doi: 10.1161/CIR.0b013e3181d4739e.
8. Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, et al; ESC Committee for Practice Guidelines. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J. 2014;35:2873-2926. doi: 10.1093/eurheartj/ehu281.
9. Tran-Fadulu V, Pannu H, Kim DH, Vick GW 3rd, Lonsford CM, Lafont AL, et al. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet. 2009;46:607-613. doi: 10.1136/jmg.2008.062844.
10. R Core Team. R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria; 2012.
11. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47:476-485. doi: 10.1136/jmg.2009.072785.
12. Pyeritz RE. Marfan syndrome: 30 years of research equals 30 years of additional life expectancy. Heart. 2009;95:173-175. doi: 10.1136/hrt.2008.160515.
13. Williams JA, Hanna JM, Shah AA, Andersen ND, McDonald MT, Jiang YH, et al. Adult surgical experience with Loeys-Dietz syndrome. Ann Thorac Surg. 2015;99:1275-1281. doi: 10.1016/j.athoracsur.2014.11.021.
14. Iba Y, Minatoya K, Matsuda H, Sasaki H, Tanaka H, Morisaki H, et al. Surgical experience with aggressive aortic pathologic process in Loeys-Dietz syndrome. Ann Thorac Surg. 2012;94:1413-1417. doi: 10.1016/j. athoracsur.2012.05.111.
15. Malfait F, De Paepe A. The Ehlers-Danlos syndrome. Adv Exp Med Biol. 2014;802:129-143. doi: 10.1007/978-94-007-7893-1-9.
16. Shores J, Berger KR, Murphy EA, Pyeritz RE. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med. 1994;330:1335-1341. doi: 10.1056/NEJM199405123301902.
17. Cheng A, Owens D. Marfan syndrome, inherited aortopathies and exercise: what is the right answer? Heart. 2015;101:752-757. doi: 10.1136/heartjnl-2014-306440.
18. Jondeau G, Detaint D, Tubach F, Arnoult F, Milleron O, Raoux F, et al. Aortic event rate in the Marfan population: a cohort study. Circulation. 2012;125:226-232. doi: 10.1161/CIRCULATIONAHA.111.054676.
19. Svensson LG, Kim KH, Lytle BW, Cosgrove DM. Relationship of aortic cross-sectional area to height ratio and the risk of aortic dissection in patients with bicuspid aortic valves. J Thorac Cardiovasc Surg. 2003;126:892-893.
20. Coady MA, Rizzo JA, Hammond GL, Mandapati D, Darr U, Kopf GS, et al. What is the appropriate size criterion for resection of thoracic aortic aneurysms? J Thorac Cardiovasc Surg. 1997;113:476-491; discussion 489. doi: 10.1016/S0022-5223(97)70360-X.
21. Morris SA, Orbach DB, Geva T, Singh MN, Gauvreau K, Lacro RV. Increased vertebral artery tortuosity index is associated with adverse outcomes in children and young adults with connective tissue disorders. Circulation. 2011;124:388-396. doi: 10.1161/CIRCULATIONAHA.110.990549.
22. Franken R, El Morabit A, de Waard V, Timmermans J, Scholte AJ, van den Berg MP, et al. Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome. Int J Cardiol. 2015;194:7-12. doi: 10.1016/j.ijcard.2015.05.072.