Literature DB >> 9596329

Cardiomyopathic lentiginosis/LEOPARD syndrome presenting as sudden cardiac arrest.

A Woywodt1, J Welzel, H Haase, A Duerholz, U Wiegand, J Potratz, A Sheikhzadeh.   

Abstract

A 26-year-old apparently healthy man with numerous pigmented skin lesions collapsed during an evening party and was resuscitated from ventricular fibrillation. Hypertrophic cardiomyopathy and subaortic tunnel were disclosed by angiocardiography. A diagnosis of cardiomyopathic lentiginosis/lentigines (multiple), electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth, and deafness (sensorineural) syndrome was made. The patient then underwent treatment with an implantable pacer-cardioverter-defibrillator device. Further evaluation revealed several well-established features of the disorder. This is the first reported case of survival from ventricular fibrillation associated with this rare and little known multifaceted syndrome. Disseminated lentiginosis must prompt clinicians to evaluate such cases further since underlying disorders may be associated with considerable morbidity and, apparently, sudden death.

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Year:  1998        PMID: 9596329     DOI: 10.1378/chest.113.5.1415

Source DB:  PubMed          Journal:  Chest        ISSN: 0012-3692            Impact factor:   9.410


  4 in total

1.  Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome.

Authors:  Giuseppe Limongelli; Giuseppe Pacileo; Maria Giovanna Russo; Anna Sarkozy; Maria Felicetti; Giovanni Di Salvo; Carmela Morelli; Paolo Calabrò; Dario Paladini; Bruno Marino; Bruno Dallapiccola; Raffaele Calabrò
Journal:  J Prenat Med       Date:  2008-04

Review 2.  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

3.  SHP-2 deletion in postmigratory neural crest cells results in impaired cardiac sympathetic innervation.

Authors:  Jacquelyn D Lajiness; Paige Snider; Jian Wang; Gen-Sheng Feng; Maike Krenz; Simon J Conway
Journal:  Proc Natl Acad Sci U S A       Date:  2014-03-24       Impact factor: 11.205

Review 4.  Leopard syndrome.

Authors:  Anna Sarkozy; Maria Cristina Digilio; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2008-05-27       Impact factor: 4.123

  4 in total

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