Loeys-Dietz syndrome

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Classification according to ICD-10
Q87.4 Marfan's Syndrome
Q25.4 Other congenital malformations of the aorta
ICD-10 online (WHO version 2019)

The Loeys-Dietz syndrome is a very rare congenital disease belonging to the connective tissue disease with the main symptoms of aortic aneurysm , facial abnormalities ( hypertelorism , cleft palate ) and diffuse vascular changes ( aneurysm ).

Synonym : Aortic aneurysm syndrome due to TGFbeta receptor abnormalities

The name goes back to the authors of the first description from 2005 by the human geneticists Harry C. Dietz and Bart L. Loeys.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

Classification

Depending on the known underlying mutation , the "classic" division was made into two groups:

  • LDS1 (synonyms: Furlong syndrome, familial thoracic aortic aneurysm type 5; AAT5 ), with mutations in TGFBR1 - gene in the chromosome 9 at locus q22.33.
  • LDS2 (synonyms: familial thoracic aortic aneurysm type 3; AAT3; obsolete: Marfan's syndrome type II ) with mutations in the TGFBR2 gene in chromosome 3 on the p24.1 genor.

With the discovery of further, rarer mutations, the classification was supplemented as follows:

  • Type I (corresponds to LDS1), mutations in the TGFBR1 gene
  • Type II (corresponds to LDS2), mutations in the TGFBR2 gene
  • Type III (LDS3) (synonyms: aneurysms-osteoarthritis syndrome; Loeys-Dietz syndrome With Osteoarthritis; outdated: Loeys-Dietz syndrome, type 1C; LDS1C ), mutations in the SMAD3 gene in chromosome 15 at locus q22.33
  • Type IV (LDS4) (Synonym: Aneurysm, Aortic And Cerebral, With Arterial Tortuosity And Skeletal Manifestations ), mutations in the TGFB2 gene in chromosome 1 at locus q41
  • Type V (LDS5) (synonyms: Rienhoff syndrome; RNHF ), mutations in the TGFB3 gene in chromosome 14 at locus q24.3

Clinical manifestations

The disease already shows up in newborns or infants .

Clinical criteria are:

There are also: funnel or chicken breast , scoliosis , contractures of the fingers, arachnodactyly , clubfoot , instability of the cervical spine and translucent, easily vulnerable skin.

diagnosis

The detection of the aortic aneurysms and tortuosity of the vessels is preferably carried out using whole-body MRA .

The degree of dilation of the aortic root can be determined using echocardiography .

Using an app, it is possible to use a photo analysis to analyze the face for characteristic features of Loeys-Dietz syndrome.

Differential diagnosis

To be distinguished are the Marfan syndrome , the Ehlers-Danlos syndrome and the Shprintzen-Goldberg syndrome .

literature

  • A. Manchola-Linero, F. Gran Ipiña, G. Teixidó-Tura, F. López Grondona, F. Rosés Noguer, A. Sabaté-Rotés: Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Multidisciplinary Team Experience. In: Revista espanola de cardiologia. [electronic publication before printing] June 2017, doi: 10.1016 / j.rec.2017.03.031 , PMID 28579256 .
  • G. MacCarrick, JH Black, S. Bowdin, I. El-Hamamsy, PA Frischmeyer-Guerrerio, AL Guerrerio, PD Sponseller, Bart Loeys, Harry C. Dietz: Loeys-Dietz syndrome: a primer for diagnosis and management. In: Genetics in medicine: official journal of the American College of Medical Genetics. Vol. 16, No. 8, August 2014, pp. 576-587, doi: 10.1038 / gim.2014.11 , PMID 24577266 , PMC 4131122 (free full text) (review).
  • K. Steindl: Marfan syndrome and other genetic aortic diseases. Vol. 102, No. 24, November 2013, pp. 1483–1488, ISSN  1661-8157 . doi: 10.1024 / 1661-8157 / a001496 . PMID 24280605 . (Review).
  • VB Kalra, JW Gilbert, A. Malhotra: Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. In: Pediatric radiology. Vol. 41, No. 12, December 2011, pp. 1495-1504, doi: 10.1007 / s00247-011-2195-z , PMID 21785848 (review).
  • M. Siepe, F. Löffelbein: The Marfan syndrome and related diseases with congenital connective tissue weakness. In: Medical monthly for pharmacists. Vol. 32, No. 6, June 2009, pp. 213-219, ISSN  0342-9601 . PMID 19554831 . (Review).

Individual evidence

  1. ↑ a b c Loeys-Dietz syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ BL Loeys, J. Chen, ER Neptune, DP Judge, M. Podowski, T. Holm, J. Meyers, CC Leitch, N. Katsanis, N. Sharifi, FL Xu, LA Myers, PJ Spevak, DE Cameron, J De Backer, J. Hellemans, Y. Chen, EC Davis, CL Webb, W. Kress, P. Coucke, DB Rifkin, AM De Paepe, HC Dietz: A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. In: Nature genetics. Vol. 37, No. 3, March 2005, pp. 275-281, doi: 10.1038 / ng1511 , PMID 15731757 .
  3. ↑ LDS1.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ LDS1.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ Genetics Home Reference
  6. ^ L. Van Laer, H. Dietz, B. Loeys: Loeys-Dietz syndrome. In: Advances in Experimental Medicine and Biology . Vol. 802, 2014, pp. 95-105, doi : 10.1007 / 978-94-007-7893-1_7 , PMID 24443023 (review).
  7. ^ Loeys-Dietz syndrome 3.  In: Online Mendelian Inheritance in Man . (English)
  8. ^ Loeys-Dietz syndrome 4.  In: Online Mendelian Inheritance in Man . (English)
  9. ^ Loeys-Dietz syndrome 5.  In: Online Mendelian Inheritance in Man . (English)
  10. ↑ a b GeneReviews
  11. ↑ E. Mariucci, A. Donti, M. Guidarini, G. Oppido, E. Angeli, L. Lovato, A. wiping Meijer, M. Finlay, DG Gargiulo, FM Picchio, M. Bonvicini: Diagnostic Accuracy of Aortic Root Cross- sectional Area / Height Ratio in Children and Young Adults with Marfan and Loeys-Dietz Syndrome. In: Congenital heart disease. Vol. 11, No. 3, May 2016, pp. 276-282, doi: 10.1111 / chd.12315 , PMID 26555028 .
  12. ↑ Deutscher Ärzteverlag GmbH, editorial office of Deutsches Ärzteblatt: App recognizes hereditary diseases by the shape of the face. January 8, 2019, accessed January 13, 2019 .
  13. ↑ Stefanie Jänisch, N. Turmanov, UV Albrecht, A. Fieguth, D. Günther: Aneurysma dissecans - not such a rare disease. In: Medical Clinic (Munich: 1983). Vol. 105, No. 12, December 2010, pp. 871-875, ISSN  1615-6722 . doi: 10.1007 / s00063-010-1151-2 . PMID 21240585 .

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