Literature DB >> 15071461

LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease.

Marineh Yagubyan1, Jean M Panneton, Noralane M Lindor, Emanuela Conti, Anna Sarkozy, Antonio Pizzuti.   

Abstract

LEOPARD syndrome, one of many cardiocutaneous syndromes, is an acronym for some of the obvious manifestations of the disease, such as lentigines or ocular hypertelorism. The synonymous name progressive cardiomyopathic lentiginosis better indicates the morbid cardiac features that patients with the syndrome have. A patient with LEOPARD syndrome is presented. He had recurrent upper extremity aneurysms requiring multiple operations and finally PTFE reinforced venous grafts to prevent further aneurysmal degeneration. He has multiple other peripheral aneurysms, thus far asymptomatic. His diagnosis of LEOPARD syndrome was confirmed on a genetic basis. Review of the literature reveals no previous reports of severe aneurysmal disease in these patients.

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Year:  2004        PMID: 15071461     DOI: 10.1016/j.jvs.2003.11.030

Source DB:  PubMed          Journal:  J Vasc Surg        ISSN: 0741-5214            Impact factor:   4.268


  3 in total

Review 1.  The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis.

Authors:  A J Bauer; C A Stratakis
Journal:  J Med Genet       Date:  2005-06-15       Impact factor: 6.318

2.  Frequency of aortic dilation in Noonan syndrome.

Authors:  James W Cornwall; Robert S Green; James C Nielsen; Bruce D Gelb
Journal:  Am J Cardiol       Date:  2013-10-04       Impact factor: 2.778

3.  Giant coronary artery aneurysm in a patient with LEOPARD syndrome.

Authors:  Marion Bourgain; Xavier Iriart; Jean-Benoît Thambo; Hubert Cochet
Journal:  Eur Heart J Case Rep       Date:  2019-09-01
  3 in total

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