Actual management of patients with familial ascending aortic aneurysms and type-a aortic dissections

Thoracic and Cardiovascular Surgeon

Volumn 55, Issue 1, 2007, Pages 19-23

  Weigang, Ernst ^a   Chang, X C ^a   Munk Schulenburg, S ^a   Richter, H ^a   Von Samson, P ^a   Goebel, H ^a   Frydrychowicz, A ^a   Geibel, A ^a   Ammann, S ^a   Schwering, L ^a   Brunner, T ^a   Severin, T ^a   Czerny, M ^b   Beyersdorf, F ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Aortic disease; Familial ascending aortic aneurysm; Familial type A aortic dissection; Unknown genetic syndrome

Indexed keywords

ADULT; AORTA ANEURYSM; AORTA DISSECTING ANEURYSM; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; FEMALE; GENETIC DISORDER; HUMAN; HUMAN TISSUE; MALE; MOLECULAR GENETICS; MULTIGENE FAMILY; PRIORITY JOURNAL; SURGICAL TECHNIQUE; ADOLESCENT; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; DISSECTING ANEURYSM; ECHOCARDIOGRAPHY; FOLLOW UP; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; POLYMERASE CHAIN REACTION; PROGNOSIS; RETROSPECTIVE STUDY; THORACIC AORTA ANEURYSM;

ACTIN BINDING PROTEIN; CALCIUM BINDING PROTEIN; DNA; FIBRILLIN;

ADOLESCENT; ADULT; ANEURYSM, DISSECTING; AORTIC ANEURYSM, THORACIC; CALCIUM-BINDING PROTEINS; DIAGNOSIS, DIFFERENTIAL; DNA; ECHOCARDIOGRAPHY; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROGNOSIS; RETROSPECTIVE STUDIES; TOMOGRAPHY, X-RAY COMPUTED;

EID: 34047189872     PISSN: 01716425     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2006-924575     Document Type: Article

References (30)

1. Marfan AB. Un cas de deformation congenitale des quatre membres plus prononcee aux extrémités charactérisée par l'allongement des os avec un certain degré d'amincisement. Bull Mem Soc Med Hospital (Paris) 1896; 13: 220-226
2. Milewicz DM, Dietz HC, Miller DC. Treatment of aortic disease in patients with Marfan syndrome. Circul 2005; 111: 150-157
3. Kodolitsch v. Y, Raghunath M, Nienaber CA. Das Marfan-Syndrom: Prävalenz und natürlicher Verlauf der kardiovaskulären Manifestationen. Z Kardiol 1998; 87: 150-160
4. Dietz HC, Cutting CR, Pyeritz RE et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337-339
5. Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L. Location on chromosome 15 of the gene causing Marfan syndrome. N Engl J Med 1990; 323: 935-939
6. 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; 286: 804-808
7. Pyeritz RE. The Marfan syndrome. Annu Rev Med 2000; 51: 481-510
8. Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000; 37: 9-25
9. Apostolopoulos TD, Kyriakidis MK, Kitsiou SA, Galla-Voumvouraki AD, Tsezou AN, Toutouzas PK. Turner syndrome with normal ovarial function and multiple malformations of the aorta. Postgrad Med J 1994; 70: 838-840
10. Kretschmar K, Witkowski R. Dissecting aortic aneurysm in a man with symptoms of Turner's syndrome. Z Gesamte Inn Med 1982; 37: 278-281
11. Lin AE, Garver KL, Allanson J. Aortic root dilatation in Noonan's syndrome. N Engl J Med 1987; 317: 1668-1669
12. Purnell R, Williams I, von Oppell U, Wood A. Giant aneurysms of the sinuses of Valsalva and aortic regurgitation in a patient with Noonan's syndrome. Eur J Cardiothorac Surg 2005; 28: 346-348
13. Morgan JM, Coupe MO, Honey M, Miller GA. Aneurysms of the sinuses of Valsalva in Noonan's syndrome. Eur Heart J 1989; 10: 190-193
14. Shachter N, Perloff JK, Mulder DG. Aortic dissection in Noonan's syndrome (46 XY turner). Am J Cardiol 1984; 54: 464-465
15. Hamano K, Minami Y, Fujimura Y et al. Emergency operation for thoracic aortic aneurysm caused by the Ehlers-Danlos syndrome. Ann Thorac Surg 1994; 58: 1180-1182
16. Bixler D, Antley RM. Familial aortic dissection with iris anomalies - a new connective tissue disease syndrome? Birth Defects Orig Artic Ser 1976; 12: 229-234
17. McManus BM, Cassling RS, Soundy TJ, Wilson JE, Sears TD. Familial aortic dissection in absence of ascending aortic aneurysms: a lethal syndrome associated with precocious systemic hypertension. Am J Cardiovasc Pathol 1986; 1: 55-67
18. Nicod P, Bloor C, Godfrey M et al. Familial aortic dissecting aneurysm. J Am Coll Cardiol 1989; 13: 811-819
19. Toyama M, Amano A, Kameda T. Familial aortic dissection: a report of rare family cluster. Br Heart J 1989; 61: 204-207
20. Warnes CA, Kirkmann PM, Roberts WC. Aortic dissection in more than one family member. Am J Cardiol 1985; 55: 236-238
21. Teien D, Finley JP, Murphy DA, Lacson A, Longhi J, Gillis DA. Idiopathic dilatation of the aorta with dissection in a family without Marfan syndrome. Acta Paediatr Scand 1991; 80: 1246-1249
22. Hasham SN, Willing MC, Guo DC et al. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circul 2003; 107: 3184-3190
23. Guo D, Hasham S, Kuang SQ et al. Familial thoracic aortic aneurysm and dissections. Circul 2001; 103: 2461-2468
24. Vaughan CJ, Casey M, He J et al. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circul 2001; 103: 2469-2475
25. Tiecke F, Katzke S, Booms P et al. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Eur J Hum Genet 2001; 9: 13-21
26. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62: 417-426
27. Francke U, Berg MA, Tynan K et al. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet 1995; 56: 1287-1296
28. Whiteman P, Handford PA. Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. Hum Molec Genet 2003; 7: 727-737
29. Whiteman P, Smallridge RS, Knott V, Cordle JJ, Downing AK, Handford PA. A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects. J Biol Chem 2001; 276: 17156-17162
30. 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