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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
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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

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