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

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 fa...

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Bibliographic Details
Published in:Cardiology in the young 2000-11, Vol.10 (6), p.582-589
Main Authors: Fadley, Fadel Al, Manea, Waleed Al, Nykanen, David G., Fadley, Abdulah Al, Bulbul, Ziad, Halees, Zohair Al
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aortic Diseases - diagnosis
Aortic Diseases - genetics
Arteriopathy
Child
Child, Preschool
connective tissue disease
Consanguinity
Coronary Disease - diagnosis
Coronary Disease - genetics
Face - abnormalities
Family Health
Female
Humans
Male
Original Articles
Phenotype
Pulmonary Artery
Syndrome
Torsion Abnormality
tortuosity
Vascular Diseases - diagnosis
Vascular Diseases - genetics
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Summary: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.
ISSN:1047-9511
1467-1107
DOI:10.1017/S1047951100008854