Arterial tortuosity syndrome: A rare entity

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Abstract

We present a 5 month old baby who was referred for an incidental detection of a murmur and was found to have tortuous pulmonary arteries with multiple peripheral pulmonary stenoses and bilateral inguinal hernia pointing towards the diagnosis of arterial tortuosity syndrome.

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Most cited references 8

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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?

Z Bulbul, W Al Nasser, F Fadley … (2000)

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.

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Four sibs with arterial tortuosity: description and review of the literature.

Naomi J. Fox, Alexander T. Cohen, S. Singh … (1996)

We described four offspring of a consanguineous couple with arterial tortuosity "syndrome" (ATS). The affected children had extensive arterial involvement although the clinical presentations were quite variable. Clinical manifestations included cutis laxa or soft/thin skin, joint laxity or contractures, and arachnodactyly. Aortic tortuosity and pulmonary artery aneurysms with or without peripheral stenoses were demonstrated in all four sibs. All three males had inguinal hernias. Inconsistent facial anomalies were downslanting palpebral tissues, beaked nose, micrognathia, and high-arched palate. Results of collagen type I and type III biosynthesis studies were normal on skin fibroblasts. Histologic findings on autopsy of one affected child showed arterial changes with disruption of elastic fibers of the media and fragmentation of the internal elastic membrane as well as mucosal and transmural necrosis of the stomach, small bowel, colon, and extensive necrosis of the liver. Coronary artery involvement was also seen in this child as well as biventricular hypertrophy. We conclude that ATS is an autosomal recessive connective tissue condition associated with diffuse arterial changes and involvement of the skin, joints, and other organs.

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Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries.

Martin H. Less, Victor Menashe, Cecille O. Sunderland … (1969)

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Author and article information

Journal

Journal ID (nlm-ta): Ann Pediatr Cardiol

Journal ID (publisher-id): APC

Title: Annals of Pediatric Cardiology

Publisher: Medknow Publications (India )

ISSN (Print): 0974-2069

ISSN (Electronic): 0974-5149

Publication date (Print): Jan-Jun 2008

Volume: 1

Issue: 1

Pages: 62-64

Affiliations

Department of Pediatric Cardiology, Narayana Hrudayalaya Institute of Cardiac Sciences, Bangalore, India

Author notes

Address for correspondence: Dr. Sunita Maheshwari Villa 19, Regent Place, Whitefield Main Road, Bangalore, India. E-mail: sunita.maheshwari@ 123456telradsol.com

Article

Publisher ID: APC-01-62

DOI: 10.4103/0974-2069.41060

PMC ID: 2840741

PubMed ID: 20300242

SO-VID: 3d776abf-3755-4798-8448-f9083469b66e

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This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Arterial tortuosity syndrome: A rare entity

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Abstract

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Most cited references 8

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

Four sibs with arterial tortuosity: description and review of the literature.

Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries.

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