Korean Circ J.  2012 Apr;42(4):288-291. 10.4070/kcj.2012.42.4.288.

A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome

• Suh YJ
• Kwon HW
• Kim GB
• Kwon BS
• Bae EJ
• Noh CI
• Choi JY
• Kim KH
• Kim YJ
• Park SS

• KMID: 2225025
• DOI: http://doi.org/10.4070/kcj.2012.42.4.288

Abstract

Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ssR 1/2). The syndrome predisposes patients to aortic aneurysm and dissections, along with craniofacial and musculoskeletal abnormalities. Here we report the case of an adolescent who underwent serial near total aortic replacement, from the aortic valve to the descending aorta. Loeys-Dietz syndrome was confirmed in this case by the detection of a mutation in the TGF-ssR 2 gene.

Keyword

Loeys-Dietz syndrome; Aortic aneurysm; Craniofacial abnormalities; Transforming growth factor-beta type II receptor

MeSH Terms

Adolescent
Aorta, Thoracic
Aortic Aneurysm
Aortic Valve
Craniofacial Abnormalities
Humans
Loeys-Dietz Syndrome
Musculoskeletal Abnormalities
Protein-Serine-Threonine Kinases
Receptors, Transforming Growth Factor beta
Protein-Serine-Threonine Kinases
Receptors, Transforming Growth Factor beta

Figure

• 

  Fig. 1 Morphology of a patient with Loeys-Dietz syndrome. The patient shows the typical facial dysmorphology of Loeys-Dietz syndrome type I, widely spaced eyes (hypertelorism, A), frontal bossing (B), bifid uvula (C), arachnodactyly and camptodactyly of the right hand (D).

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  Fig. 2 Preoperative and postoperative computed tomography (CT) angiogram of the aorta. A and B: preoperative CT angiogram demonstrating extensive dissection of the aorta from the left subclavian artery ostium to both renal arteries. C: three-dimensional CT angiogram of the aorta following thoraco-abdominal aortic replacement.

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  Fig. 3 Mutation in transforming growth factor-beta receptor 2 (TGF-ßR 2) in Loeys-Dietz syndrome. The sequence of TGF-ßR 2 gene (exon 7) flanking the mutation c.1597T>C (p.C533R) in our patient; the arrows indicate the site of mutation.

Reference

1. Loeys BL, Chen J, Neptune ER, 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.

2. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006. 355:788–798.

3. Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg. 2007. 83:S757–S763.

4. Melenovsky V, Adamira M, Kautznerova D, et al. Aortic dissection in a young man with Loeys-Dietz syndrome. J Thorac Cardiovasc Surg. 2008. 135:1174–1175. 1175.e1

5. Van Hemelrijk C, Renard M, Loeys B. The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol. 2010. 25:546–551.

6. Neri E, Tommasino G, Tucci E, Benvenuti A, Ricci C. A complex thoracoabdominal aneurysm in a Loeys-Dietz patient: an open, hybrid, anatomic repair. Ann Thorac Surg. 2010. 90:e88–e90.

7. Williams ML, Wechsler SB, Hughes GC. Two-stage total aortic replacement for Loeys-Dietz syndrome. J Card Surg. 2010. 25:223–224.

8. Williams JB, McCann RL, Hughes GC. Total aortic replacement in Loeys-Dietz syndrome. J Card Surg. 2011. 26:304–308.

9. Everitt MD, Pinto N, Hawkins JA, Mitchell MB, Kouretas PC, Yetman AT. Cardiovascular surgery in children with Marfan syndrome or Loeys-Dietz syndrome. J Thorac Cardiovasc Surg. 2009. 137:1327–1332.

10. Jayle C, Hajj-Chahine J, Corbi P. Aortic decision making in Loeys-Dietz syndrome. J Thorac Cardiovasc Surg. 2010. 139:1088–1089.