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Titolo:
Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: a new syndrome?
Autore:
Al Fadley, F; Al Manea, W; Nykanen, DG; Al Fadley, A; Bulbul, Z; Al Halees, Z;
Indirizzi:
King Faisal Specialist Hosp & Res Ctr, Dept Cardiovasc Dis, Pediat CardiolSect, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr Riyadh Saudi Arabia 11211 i Arabia Hosp Sick Children, Dept Pediat Cardiol, Toronto, ON, Canada Hosp Sick Children Toronto ON Canada Pediat Cardiol, Toronto, ON, Canada Univ Toronto, Toronto, ON, Canada Univ Toronto Toronto ON CanadaUniv Toronto, Toronto, ON, Canada King Faisal Specialist Hosp & Res Ctr, Dermatol Sect, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr Riyadh Saudi Arabia 11211 i Arabia
Titolo Testata:
CARDIOLOGY IN THE YOUNG
fascicolo: 6, volume: 10, anno: 2000,
pagine: 582 - 589
SICI:
1047-9511(200011)10:6<582:STASOT>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
INTERNAL CAROTID-ARTERY; MARFAN-SYNDROME; CHROMOSOME-15; ASSIGNMENT; DISSECTION; ELASTIN; GENE;
Keywords:
arteriopathy; tortuosity; connective tissue disease;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Al Fadley, F King Faisal Specialist Hosp & Res Ctr, Dept Cardiovasc Dis, Pediat CardiolSect, MBC 16,POB 3354, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr MBC 16,POB 3354 Riyadh Saudi Arabia 11211
Citazione:
F. Al Fadley et al., "Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: a new syndrome?", CARD YOUNG, 10(6), 2000, pp. 582-589

Abstract

We describe what is, to the best of our knowledge, a previously unreportedassociation 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 elongatedfacies, 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 ex-eluding 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 01:55:17