Hostname: page-component-cd9895bd7-8ctnn Total loading time: 0 Render date: 2024-12-23T18:43:31.606Z Has data issue: false hasContentIssue false
  • English
  • Français

Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: a new syndrome?

Published online by Cambridge University Press:  19 August 2008

Fadel Al Fadley ,
Waleed Al Manea ,
David G. Nykanen ,
Abdulah Al Fadley ,
Ziad Bulbul  and
Zohair Al Halees
Fadel Al Fadley*
Affiliation:
Department of Cardiovascular Diseases, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudia Arabia;
Waleed Al Manea
Affiliation:
Department of Cardiovascular Diseases, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudia Arabia;
David G. Nykanen
Affiliation:
Department of Pediatrics (Cardiology), Hospital for Sick Children and the University of Toronto, Canada;
Abdulah Al Fadley
Affiliation:
Section of Dermatology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Ziad Bulbul
Affiliation:
Department of Cardiovascular Diseases, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudia Arabia;
Zohair Al Halees
Affiliation:
Department of Cardiovascular Diseases, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudia Arabia;
*
Dr Fadel Al-Fadley, Head, Section of Pediatnc Cardiology, Department of Cardiovascular Diseases, King Faisal Specialist Hospital and Research Centre, MBC 16, PO. Box 3354, Riyadh 11211, Saudi Arabia. Tel: (966-1)4647272, Fax (966-1)442-7482; E-mail fadley@kfshrc edu.sa
Get access Rights & Permissions [Opens in a new window]

Abstract

We describe what is, to the best of our knowledge, a previously unreported association in patients with similar facial features, skin and joint laxity, of lengthening and tortuosity of systemic, pulmonary and coronary vessels. We evaluated 12 patients with similar phenotypes, from eight different families. Detailed echocardiographic and angiographic evaluations were performed in all, and biopsies of the skin in seven. All patients have elongated facies, prominent ears, micrognathia and laxity of their joints. Angiographic pictures showed a varying degree of lengthening and tortuosity of systemic, pulmonary, and coronary arteries. Pulsatile carotid arteries formed cervical masses in 2 patients, and three had severe renal arterial stenoses. All showed varying degrees of branch and peripheral pulmonary arterial stenosis, necessitating placement of stents in six. Biopsy of the skin proved normal in all seven patients studied, thus excluding cutis laxa, Ehlers-Danlos and Marfan syndromes. The constellation of abnormalities suggests a genetic syndrome of connective tissue etiology. Further genetic studies, and gene mapping, are underway.

Keywords

Arteriopathytortuosityconnective tissue disease
Type
Original Articles
Information
Cardiology in the Young , Volume 10 , Issue 6 , November 2000 , pp. 582 - 589
Copyright
Copyright © Cambridge University Press 2000

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Berry, RE, Griffith, JR, Templeton, JY.Kinking of the aorta. Am Surg 1963;29: 65–69.Google Scholar
2. Bruwer, AJ, Burchell, HB.. Kinking of the aortic arch (pseudocoarctation, subclinical coarctation). JAMA 1956;162: 1445–1447.CrossRefGoogle ScholarPubMed
3. Bruwer, AJ.. Kinking of the aortic arch simulating mediastinal tumor. Brit Radiol 1957;30: 387–390.CrossRefGoogle Scholar
4. Coppola, ED.Dysphagia caused by elongation and tortuosity of the common carotid artery. New Engl J Med 1964;270: 572–574.CrossRefGoogle ScholarPubMed
5. Desai, MG.. Widened and kinked descending part of the thoracic aorta simulating intrathoracic tumor. Brit J Radiol 1957;30: 391–392.CrossRefGoogle Scholar
6. Di Gluglielmo, L, Guttadauro, M.. Kinking of the aorta: report of two cases. Acta Radiologica 1955;44: 121–129.CrossRefGoogle Scholar
7. Ertugrul, A.. Diffuse tortuosity and lengthening of the arteries Circulation 1967;36: 400–407.CrossRefGoogle ScholarPubMed
8. Hsu, I, Kistin, AD.Buckling of the great vessels: A clinical and angiographic study. Arch Intern Med 1956;98: 712–720.CrossRefGoogle Scholar
9. Kessler, RM, Miller, KB, Pett, S, Wernly, JA.Pseudocoarctation of the aorta presenting as a mediastinal mass with dysphagia. Ann Thorac Surg 1993;55: 1003–1005.CrossRefGoogle ScholarPubMed
10. Khoo, FY. Juvenile elongation of the aorta. Am Heart J 1943;25: 404–406.CrossRefGoogle Scholar
11. Lentino, W, Principato, DJ, Poppel, MH.Buckling of the carotid artery demonstrated by angiocardiography. Ann Intern Med 1959;44: 1003–1007.Google Scholar
12. Macchi, C, Gulidano, M, Giannelli, F, Catini, C, Pratesi, C, Pacini, P.Kinking of the human internal carotid artery: a statistical study in 100 healthy subjects by echocolor Doppler. Cardiovasc Surg 1997;38: 629–637.Google ScholarPubMed
13. Rosier, H, White, PD.Unusual variations of the roentgen shadow of the elongated thoracic aorta. Am Heart J 1931;6. 768–777.Google Scholar
14. Schneider, HJ, Felson, B.Buckling of innominate artery simulating aneurysm and tumor. Am J Roentgenol 1959,85: 1106–1110.Google Scholar
15. Souders, CR, Pearson, CM, Adams, HD.An aortic deformity simulating mediastinal tumor: A subclinical form of coarctation. Dis Chest 1951,20: 35–45.CrossRefGoogle ScholarPubMed
16. Vaughan, BF.Kinking of the aortic arch. Brit J Radiol 1956;516–517.CrossRefGoogle ScholarPubMed
17. Coulson, WT.. Peculiar disposition of large vessels, producing tumour at root of neck. Tr Path Soc London 1852;3: 302.Google Scholar
18. Beuren, AJ, Hort, W, Kalbfleisch, H, Muller, H., Stoermer, J. Dysplasia of the systemic and pulmonary arterial system with tortuosity and lengthening of the arteries. Circulation 1969,39: 109–115.CrossRefGoogle ScholarPubMed
19. McDonald, AH, Gerlis, LM, Somerville, J.Familial arteriopathy with associated pulmonary and systemic stenoses. Br Heart J 1969;75: 375–385.CrossRefGoogle Scholar
20. Lees, MH, Menashe, VD, Sunderland, CO, Mganom, CL, Dawson, PJ.. Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries. J Pediatr 1969;75: 1031–1036.CrossRefGoogle ScholarPubMed
21. Quattlebaum, JT, Upson, ET, Neville, RL.Stroke associated with elongation and kinking of internal carotid artery: report of three cases treated by segmental resection of carotid artery Ann Surg 1959;150: 824–832.CrossRefGoogle Scholar
22. Karen, H, Peter, B.Skin is a window on heritable disorders of connective tissue. Am J Med Genet 1989;34: 105–121.Google Scholar
23. Masato, T, Hiroshi, T, Chion, A, Tsuyako, E.. A disease with features of cutis laxa and Ehlers-Danlos syndrome. Hum Genet 1988;78: 9–12.Google Scholar
24. Damkier, A, Brandrup, I, Starklint, H.Cutis laxa: Autosomal dominant inheritance in five generations. Clin Genet 1991: 39: 321–329.CrossRefGoogle ScholarPubMed
25. Dietz, HC, Pyeritz, RE, Hall, BD, Cadle, RG, Hamosh, A, Schwartz, J, Meyers, DA, Francomano, CA.The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15– q21.3. Genomics 1991;9: 355–361.CrossRefGoogle ScholarPubMed
26. Kainulainen, K, Pulkkinen, L, Savolainen, A, Kaitila, I, Peltonen, L.. Location on chromosome 15 of the gene defect causing Marfan syndrome. New Engl J Med 1990;323: 935–939.CrossRefGoogle ScholarPubMed
27. Mokri, B, Piepgras, DG, Wiebers, DO, Houser, OW.. Familial occurrence of spontaneous dissection of the internal carotid artery. Stroke 1987;18: 246–251.CrossRefGoogle ScholarPubMed
28. Warnes, CA, Kirkman, PM., Roberts Wo Aortic dissection in more than one family member. Am J Cardiol 1985;55: 236–238.CrossRefGoogle Scholar
29. Boileau, C, Jondeau, G, Babran, Mc, Coulon, M, Aledandre, JA, Sakai, L, Dubourg, O, Bonaiti-Pellie, C, Bourdanas, JP, Junien, C.Autosomal dominant Marfan-like connective tissue disorder with aortic root dilation and skeletal anomalies not linked to the fibrillin gene. Am J Hum Genet 1993;53: 46–54.Google Scholar
30. Li, DY, Brooke, B, Davis, EC, Mecham, RP, Sorensen, LK, Boak, BB, Eichwald, E, Keating, MT.Elastin is an essential determinant of arterial morphogenesis. Nature 1998;393: 276–280.CrossRefGoogle ScholarPubMed
31. Foster, F, Ferrell, R, King-Underwood, L, Povey, S, Attwood, J, Rennick, R, Humphries, SE, Henney, AM.Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7. Ann Hum Genet 1993;57. 87–96.CrossRefGoogle ScholarPubMed