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Gepubliceerd in:

01-09-2008 | original article

The many faces of aggressive aortic pathology: Loeys-Dietz syndrome

Auteurs: J. J. J. Aalberts, M. P. van den Berg, J. E. H. Bergman, G. J. du Marchie Sarvaas, J. G. Post, H. van Unen, G. Pals, P. W. Boonstra, J. P. van Tintelen

Gepubliceerd in: Netherlands Heart Journal | Uitgave 9/2008

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Extract

Aortic dissection and rupture can be associated with generalised connective tissue disorders, especially when these catastrophic events occur at a young age. The vascular type of Ehlers-Danlos syndrome (EDS) and Marfan syndrome (MFS) are the most prevalent connective tissue disorders in these patients.1,2 Recently, however, a newly recognised connective tissue disorder, Loeys-Dietz syndrome (LDS), has been described, which is also accompanied by these severe aortic complications.3 LDS is an autosomal dominantly inherited disorder of connective tissue caused by mutations in the transforming growth factor beta (TGF-β) receptor 1 or 2 genes.3,4 The exact prevalence is unknown but given the fact that LDS has only recently been discovered, many cases might not have been diagnosed yet. The first type of this syndrome (LDS type 1) has many overlapping features with Marfan syndrome (MFS), including aortic root dilatation, arachnodactyly (long slender fingers), dolichostenomelia (thin body habitus and long extremities), pectus deformity and joint laxity, whereas LDS type 2 has features that overlap with the vascular type of EDS (see table 1 for an overview of differentiating characteristics of the syndromes).3,4 Vascular pathology in LDS, however, is more aggressive than in MFS.3-5 It is therefore of uttermost importance to recognise this disorder. This is facilitated by distinctive, frequently occurring and easily recognisable characteristics of LDS (table 1).3,4
Table 1.
Major clinical features of Loeys-Dietz syndrome (LDS) type 1 and 2, Marfan syndrome and the vascular type of Ehlers-Danlos syndrome (EDS type IV).
 
Marfan
LDS 1
LDS 2
EDS 4
Vascular
 
 
 
 
Aortic aneurysm/dissection
++
+++
+++
+++
Tortuosity
-
+++
+++
-
ASD
-
+
+
-
Skeletal
 
 
 
 
Arachnodactylya
+++
++
++
-
Dolichostenomeliab
++
+
 
-
Pectus abnormalities
++
++
++
-
Joint laxity
++
++
+++
+ (Small joints)
Pes equinovarus c
-
+
 
+
Facial
 
 
 
‘Old looking’, deep-set eyes
Craniosynostosisd
-
+/++
-
-
Hypertelorism e
-
+++
-
-
Cleft palate/bifid uvula
-
+++
+ (Uvula)
-
Skin
 
 
 
 
Excessive striae
+
-
-
-
Easy bruising
-
 
+++
++
Soft, velvety, translucent
-
+
++/+++
+++
Eyes
 
 
 
 
Ectopia lentis f
++
-
-
-
Other
 
 
 
 
Rupture large organs
-
-
+/++
++
The presence or absence of the features in italics might help to differentiate from Marfan syndrome. -infrequently, + around 25-50%, ++ around 50-75%, +++ >75%, a long slender fingers, b thin body habitus and long extremities, c clubfeet, d premature closure of cranial sutures, e increased distance between pupils, f lens subluxation.
Literatuur
1.
go back to reference Nienaber CA, Eagle KA. Aortic dissection: New Frontiers in diagnosis and management Part I: From Etiology to Diagnostic Strategies. Circulation 2003;108:628-35. Nienaber CA, Eagle KA. Aortic dissection: New Frontiers in diagnosis and management Part I: From Etiology to Diagnostic Strategies. Circulation 2003;108:628-35.
2.
go back to reference Januzzi JL, Isselbacher EM, Fattori R, Cooper JV, Smith DE, Fang J, et al. Characterizing the young patient with aortic dissection: results from the International Registry of Aortic Dissection (IRAD). J Am Coll Cardiol 2004;43:665-9. Januzzi JL, Isselbacher EM, Fattori R, Cooper JV, Smith DE, Fang J, et al. Characterizing the young patient with aortic dissection: results from the International Registry of Aortic Dissection (IRAD). J Am Coll Cardiol 2004;43:665-9.
3.
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4.
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5.
go back to reference Williams JA, Loeys BL, Nwakanma LU, Dietz HC, Spevak PJ, Patel ND, et al. Early surgical experience with Loeys-Dietz: A new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007;83:S757-63. Williams JA, Loeys BL, Nwakanma LU, Dietz HC, Spevak PJ, Patel ND, et al. Early surgical experience with Loeys-Dietz: A new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007;83:S757-63.
6.
go back to reference Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004;36:855-60. Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004;36:855-60.
7.
go back to reference De Paepe A, Devereux RB, Dietz HC, Hennekam RCM, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417-26. De Paepe A, Devereux RB, Dietz HC, Hennekam RCM, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417-26.
8.
go back to reference Dean JCS. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet 2007;15:724-33. Dean JCS. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet 2007;15:724-33.
9.
go back to reference Akutsu K, Morisaki H, Takeshita S, Sakamoto S, Tamori Y, Yoshimuta T, et al. Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta genes. Circ J 2007;71:1305-9. Akutsu K, Morisaki H, Takeshita S, Sakamoto S, Tamori Y, Yoshimuta T, et al. Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta genes. Circ J 2007;71:1305-9.
10.
go back to reference Annes JP, Munger JS, Rifkin DB. Making sense of latent TGFbeta activation. J Cell Sci 2003;116:217-24. Annes JP, Munger JS, Rifkin DB. Making sense of latent TGFbeta activation. J Cell Sci 2003;116:217-24.
11.
go back to reference Mizuguchi T, Matsumoto N. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet 2007;52:1-12. Mizuguchi T, Matsumoto N. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet 2007;52:1-12.
12.
go back to reference Azhar M, Schultz JEJ, Grupp I, Dorn GW, Meneton P, Molin DGM, et al. Transforming growth beta in cardiovascular development and function. Cytokine Growth Factor Rev 2003;14:391-407. Azhar M, Schultz JEJ, Grupp I, Dorn GW, Meneton P, Molin DGM, et al. Transforming growth beta in cardiovascular development and function. Cytokine Growth Factor Rev 2003;14:391-407.
13.
go back to reference LeMaire SA, Pannu H, Tran-Fadulu V, Carter SA, Coselli JS, Milewicz DM. Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. Nat Clin Pract Cardiovasc Med 2007;4:167- 71. LeMaire SA, Pannu H, Tran-Fadulu V, Carter SA, Coselli JS, Milewicz DM. Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. Nat Clin Pract Cardiovasc Med 2007;4:167- 71.
14.
go back to reference Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, et al. Losartan, an ATI antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006;312:117-21. Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, et al. Losartan, an ATI antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006;312:117-21.
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Metagegevens
Titel
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome
Auteurs
J. J. J. Aalberts
M. P. van den Berg
J. E. H. Bergman
G. J. du Marchie Sarvaas
J. G. Post
H. van Unen
G. Pals
P. W. Boonstra
J. P. van Tintelen
Publicatiedatum
01-09-2008
Uitgeverij
Bohn Stafleu van Loghum
Gepubliceerd in
Netherlands Heart Journal / Uitgave 9/2008
Print ISSN: 1568-5888
Elektronisch ISSN: 1876-6250
DOI
https://doi.org/10.1007/BF03086168