| Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. | |
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MedLine Citation:
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PMID: 17697839 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The aim of this study was to characterize cardiovascular involvement in a large number of patients with LEOPARD syndrome. Twenty-six patients (age range 0 to 63 years, median age at the time of the study evaluation 17 years) underwent clinical and genetic investigations. Familial disease was ascertained in 9 patients. Nineteen patients (73%) showed electrocardiographic abnormalities. Left ventricular (LV) hypertrophy was present in 19 patients (73%), including 9 with LV outflow tract obstructions; right ventricular hypertrophy was present in 8 patients (30%). Valve (57%) and coronary artery (15%) anomalies were also observed. Single patients showed LV apical aneurysm, LV noncompaction, isolated LV dilation, and atrioventricular canal defect. During follow-up (9.1 +/- 4.5 years), 2 patients died suddenly, and 2 patients had cardiac arrest. These patients had LV hypertrophy. Despite the limited number of subjects studied, genotype-phenotype correlations were observed in familial cases. In conclusion, most patients with LEOPARD syndrome showed LV hypertrophy, often in association with other valvular or congenital defects. A spectrum of underrecognized cardiac anomalies were also observed. Long-term prognosis was benign, but the occurrence of 4 fatal events in patients with LV hypertrophy indicates that such patients require careful risk assessment and, in some cases, consideration for prophylaxis against sudden death. |
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Authors:
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Giuseppe Limongelli; Giuseppe Pacileo; Bruno Marino; Maria Cristina Digilio; Anna Sarkozy; Perry Elliott; Paolo Versacci; Paolo Calabro; Andrea De Zorzi; Giovanni Di Salvo; Petros Syrris; Michael Patton; William J McKenna; Bruno Dallapiccola; Raffaele Calabro |
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Publication Detail:
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Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't Date: 2007-06-27 |
Journal Detail:
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Title: The American journal of cardiology Volume: 100 ISSN: 0002-9149 ISO Abbreviation: Am. J. Cardiol. Publication Date: 2007 Aug |
Date Detail:
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Created Date: 2007-08-16 Completed Date: 2007-09-27 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0207277 Medline TA: Am J Cardiol Country: United States |
Other Details:
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Languages: eng Pagination: 736-41 Citation Subset: AIM; IM |
Affiliation:
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Second University of Naples, Monaldi Hospital, Naples, Italy. limongelligiuseppe@libero.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Cardiovascular Abnormalities* / complications, epidemiology, genetics Child Child, Preschool DNA / genetics Echocardiography Electrocardiography, Ambulatory Female Follow-Up Studies Genotype Great Britain / epidemiology Humans Infant Infant, Newborn Intracellular Signaling Peptides and Proteins / genetics Italy / epidemiology LEOPARD Syndrome / complications*, diagnosis, genetics Male Middle Aged Mutation Polymerase Chain Reaction Prevalence Prognosis Protein Tyrosine Phosphatase, Non-Receptor Type 11 Protein Tyrosine Phosphatases / genetics Retrospective Studies Risk Assessment SH2 Domain-Containing Protein Tyrosine Phosphatases Survival Rate Time Factors src Homology Domains |
| Chemical | |
Reg. No./Substance:
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0/Intracellular Signaling Peptides and Proteins; 9007-49-2/DNA; EC 3.1.3.48/PTPN11 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 11; EC 3.1.3.48/Protein Tyrosine Phosphatases; EC 3.1.3.48/SH2 Domain-Containing Protein Tyrosine Phosphatases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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