Thoracic Aortic Dilatation Syndromes

NCT02111668 | Completed

• 1 other identifier: M-20110238
• Study Type: observational
• Target: 120
• Locations: 1 country
• Sites: 1

Brief Summary

Aortic dilatation syndromes are comprised by a group of different syndromes, of which Marfan syndrome is the best described. Many of the aorta dilatation associated syndromes are heritable connective tissue disorders but some patients do not have any other phenotypical symptoms than aorta dilatation. The genetic variation in thoracic aorta dilatation is still unknown. This study aims on genetic evaluation of patients with thoracic aorta dilatation. Furthermore the study will focus on a registry angel trying to evaluate prevalence, mortality, morbidity and socioeconomically status of Marfan syndrome patients. This part will rely on registry data obtained from unique Danish registries.

Conditions

Thoracic Aorta Dilatation; Marfan Syndrome

Keywords

Aorta; Dilatation; Marfan syndrome; Genetic; Fbn1

Outcome Measures

Primary Outcomes (1)

• Genetic evaluation

  Evaluation of the genetic cause of thoracic aorta dilatation

  one year

Secondary Outcomes (1)

• Diagnosis correction

  One year

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with thoracic aorta dilatation

You may qualify if:

• Thoracic aorta dilatation
• Marfan syndrome phenotype as in the Ghent II criteria.

Sponsors & Collaborators

• University of Aarhus: lead
• Aarhus University Hospital: collaborator

Study Sites (1)

Aarhus University Hospital

Aarhus, Central Jutland, 8200, Denmark

Location

Related Publications (32)

• Ansorge WJ. Next-generation DNA sequencing techniques. N Biotechnol. 2009 Apr;25(4):195-203. doi: 10.1016/j.nbt.2008.12.009. Epub 2009 Feb 3.

  PMID: 19429539 BACKGROUND

• Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. 2010 Jan;11(1):31-46. doi: 10.1038/nrg2626. Epub 2009 Dec 8.

  PMID: 19997069 BACKGROUND

• Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785.

  PMID: 20591885 BACKGROUND

• Dean JC. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet. 2007 Jul;15(7):724-33. doi: 10.1038/sj.ejhg.5201851. Epub 2007 May 9.

  PMID: 17487218 BACKGROUND

• Attias D, Stheneur C, Roy C, Collod-Beroud G, Detaint D, Faivre L, Delrue MA, Cohen L, Francannet C, Beroud C, Claustres M, Iserin F, Khau Van Kien P, Lacombe D, Le Merrer M, Lyonnet S, Odent S, Plauchu H, Rio M, Rossi A, Sidi D, Steg PG, Ravaud P, Boileau C, Jondeau G. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation. 2009 Dec 22;120(25):2541-9. doi: 10.1161/CIRCULATIONAHA.109.887042. Epub 2009 Dec 7.

  PMID: 19996017 BACKGROUND

• LYNAS MA. Marfan's syndrome in Northern Ireland; an account of thirteen families. Ann Hum Genet. 1958 Jul;22(4):289-309. doi: 10.1111/j.1469-1809.1958.tb01423.x. No abstract available.

  PMID: 13559881 BACKGROUND

• Sun QB, Zhang KZ, Cheng TO, Li SL, Lu BX, Zhang ZB, Wang W. Marfan syndrome in China: a collective review of 564 cases among 98 families. Am Heart J. 1990 Oct;120(4):934-48. doi: 10.1016/0002-8703(90)90213-h.

  PMID: 2220547 BACKGROUND

• Fuchs J. Marfan syndrome and other systemic disorders with congenital ectopia lentis. A Danish national survey. Acta Paediatr. 1997 Sep;86(9):947-52. doi: 10.1111/j.1651-2227.1997.tb15176.x.

  PMID: 9343273 BACKGROUND

• Gray JR, Bridges AB, Faed MJ, Pringle T, Baines P, Dean J, Boxer M. Ascertainment and severity of Marfan syndrome in a Scottish population. J Med Genet. 1994 Jan;31(1):51-4. doi: 10.1136/jmg.31.1.51.

  PMID: 8151638 BACKGROUND

• McKUSICK VA. The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue. Circulation. 1955 Mar;11(3):321-42. doi: 10.1161/01.cir.11.3.321. No abstract available.

  PMID: 14352380 BACKGROUND

• Rand-Hendriksen S, Lundby R, Tjeldhorn L, Andersen K, Offstad J, Semb SO, Smith HJ, Paus B, Geiran O. Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome. Eur J Hum Genet. 2009 Oct;17(10):1222-30. doi: 10.1038/ejhg.2009.30. Epub 2009 Mar 18.

  PMID: 19293838 BACKGROUND

• Rand-Hendriksen S, Johansen H, Semb SO, Geiran O, Stanghelle JK, Finset A. Health-related quality of life in Marfan syndrome: a cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis. Genet Med. 2010 Aug;12(8):517-24. doi: 10.1097/GIM.0b013e3181ea4c1c.

  PMID: 20613543 BACKGROUND

• Chow K, Pyeritz RE, Litt HI. Abdominal visceral findings in patients with Marfan syndrome. Genet Med. 2007 Apr;9(4):208-12. doi: 10.1097/gim.0b013e3180423cb3.

  PMID: 17438384 BACKGROUND

• Kohler M, Blair E, Risby P, Nickol AH, Wordsworth P, Forfar C, Stradling JR. The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan's syndrome. Thorax. 2009 Feb;64(2):162-6. doi: 10.1136/thx.2008.102756. Epub 2008 Oct 13.

  PMID: 18852161 BACKGROUND

• Vis JC, Timmermans J, Post MC, Budts W, Schepens MA, Thijs V, Schonewille WJ, de Bie RM, Plokker HW, Tijssen JG, Mulder BJ. Increased prevalence of migraine in Marfan syndrome. Int J Cardiol. 2009 Aug 21;136(3):330-4. doi: 10.1016/j.ijcard.2008.05.037. Epub 2008 Aug 3.

  PMID: 18678417 BACKGROUND

• Murdoch JL, Walker BA, Halpern BL, Kuzma JW, McKusick VA. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med. 1972 Apr 13;286(15):804-8. doi: 10.1056/NEJM197204132861502. No abstract available.

  PMID: 5011789 BACKGROUND

• Gray JR, Bridges AB, West RR, McLeish L, Stuart AG, Dean JC, Porteous ME, Boxer M, Davies SJ. Life expectancy in British Marfan syndrome populations. Clin Genet. 1998 Aug;54(2):124-8. doi: 10.1111/j.1399-0004.1998.tb03714.x.

  PMID: 9761390 BACKGROUND

• Chan YC, Ting CW, Ho P, Poon JT, Cheung GC, Cheng SW. Ten-year epidemiological review of in-hospital patients with Marfan syndrome. Ann Vasc Surg. 2008 Sep;22(5):608-12. doi: 10.1016/j.avsg.2008.04.005. Epub 2008 Jun 17.

  PMID: 18562163 BACKGROUND

• Silverman DI, Burton KJ, Gray J, Bosner MS, Kouchoukos NT, Roman MJ, Boxer M, Devereux RB, Tsipouras P. Life expectancy in the Marfan syndrome. Am J Cardiol. 1995 Jan 15;75(2):157-60. doi: 10.1016/s0002-9149(00)80066-1.

  PMID: 7810492 BACKGROUND

• Peters K, Apse K, Blackford A, McHugh B, Michalic D, Biesecker B. Living with Marfan syndrome: coping with stigma. Clin Genet. 2005 Jul;68(1):6-14. doi: 10.1111/j.1399-0004.2005.00446.x.

  PMID: 15952980 BACKGROUND

• Peters KF, Kong F, Horne R, Francomano CA, Biesecker BB. Living with Marfan syndrome I. Perceptions of the condition. Clin Genet. 2001 Oct;60(4):273-82. doi: 10.1034/j.1399-0004.2001.600405.x.

  PMID: 11683773 BACKGROUND

• Peters KF, Kong F, Hanslo M, Biesecker BB. Living with Marfan syndrome III. Quality of life and reproductive planning. Clin Genet. 2002 Aug;62(2):110-20. doi: 10.1034/j.1399-0004.2002.620203.x.

  PMID: 12220448 BACKGROUND

• De Bie S, De Paepe A, Delvaux I, Davies S, Hennekam RC. Marfan syndrome in Europe. Community Genet. 2004;7(4):216-25. doi: 10.1159/000082265.

  PMID: 15692197 BACKGROUND

• Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006 Oct;91(10):3897-902. doi: 10.1210/jc.2006-0558. Epub 2006 Jul 18.

  PMID: 16849410 BACKGROUND

• Stochholm K, Gravholt CH, Laursen T, Laurberg P, Andersen M, Kristensen LO, Feldt-Rasmussen U, Christiansen JS, Frydenberg M, Green A. Mortality and GH deficiency: a nationwide study. Eur J Endocrinol. 2007 Jul;157(1):9-18. doi: 10.1530/EJE-07-0013.

  PMID: 17609396 BACKGROUND

• Stochholm K, Hjerrild B, Mortensen KH, Juul S, Frydenberg M, Gravholt CH. Socioeconomic parameters and mortality in Turner syndrome. Eur J Endocrinol. 2012 Jun;166(6):1013-9. doi: 10.1530/EJE-11-1066. Epub 2012 Mar 21.

  PMID: 22436401 BACKGROUND

• Bojesen A, Juul S, Birkebaek N, Gravholt CH. Increased mortality in Klinefelter syndrome. J Clin Endocrinol Metab. 2004 Aug;89(8):3830-4. doi: 10.1210/jc.2004-0777.

  PMID: 15292313 BACKGROUND

• Bojesen A, Juul S, Birkebaek NH, Gravholt CH. Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab. 2006 Apr;91(4):1254-60. doi: 10.1210/jc.2005-0697. Epub 2006 Jan 4.

  PMID: 16394093 BACKGROUND

• Stochholm K, Juul S, Gravholt CH. Mortality and incidence in women with 47,XXX and variants. Am J Med Genet A. 2010 Feb;152A(2):367-72. doi: 10.1002/ajmg.a.33214.

  PMID: 20101696 BACKGROUND

• Stochholm K, Juul S, Gravholt CH. Diagnosis and mortality in 47,XYY persons: a registry study. Orphanet J Rare Dis. 2010 May 29;5:15. doi: 10.1186/1750-1172-5-15.

  PMID: 20509956 BACKGROUND

• Siu SC, Silversides CK. Bicuspid aortic valve disease. J Am Coll Cardiol. 2010 Jun 22;55(25):2789-800. doi: 10.1016/j.jacc.2009.12.068.

  PMID: 20579534 BACKGROUND

• Tadros TM, Klein MD, Shapira OM. Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation. 2009 Feb 17;119(6):880-90. doi: 10.1161/CIRCULATIONAHA.108.795401. No abstract available.

  PMID: 19221231 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Biobank with plasma, serum and Whole blood.

MeSH Terms

Conditions

Marfan Syndrome; Dilatation, Pathologic; Arachnodactyly

Condition Hierarchy (Ancestors)

Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms; Limb Deformities, Congenital; Musculoskeletal Abnormalities

Study Officials

• Kristian A Groth, Doctor

  Aarhus University / Aarhus University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 9, 2014
• First Posted: April 11, 2014
• Study Start: February 1, 2013
• Primary Completion: May 1, 2016
• Study Completion: May 1, 2016
• Last Updated: May 2, 2018

Record last verified: 2013-02

Locations

DK (1)