MiscellaneousPrevalence and Clinical Significance of Cardiovascular Abnormalities in Patients With the LEOPARD Syndrome
Section snippets
Methods
This was an observational study involving 3 Italian centers and 2 centers in the United Kingdom. Twenty-six European-derived patients referred to these institutions since 1990 were enrolled in the study. Informed consent was obtained for all participants according to a protocol proposed by the ethics committee at Monaldi Hospital (Naples, Italy) and approved by the other institutions.
Phenotypical examination for major and minor dysmorphisms was performed by 2 clinical geneticists (MCD, MP).
Results
The study cohort comprised 26 subjects (7 male and 19 female subjects; age range 0 to 63 years, median age at the time of the study evaluation 17 years). The median age at the diagnosis of LS was 13 years (range 0 to 62, 25th percentile 3.25, 75th percentile 18.7). Familial disease was ascertained by the investigators in 9 patients; the others (17 patients [65%]) had sporadic cases. Multiple lentigines (Figure 1) and structural heart defects were the most common features in the 26 patients
Discussion
This is the first systematic analysis of cardiovascular phenotype in large cohort of patients with LS. Since the original description, ECG abnormalities and pulmonary stenosis have been part of the clinical picture of the disease, while LV hypertrophy and other cardiac defects have been successively characterized.1, 2, 3, 15
LV hypertrophy, mainly asymmetric (79%), was the most common cardiac anomaly in our series. Apical and concentric hypertrophy, not previously reported, were observed in our
Acknowledgment
We thank the patients and families who participated in this study.
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This work was supported in part by grants from the Italian Ministry of Health (RC 2004, RC 2005, Rome, Italy). Dr. Dallapiccola was supported by the Italian Ministry of Instruction, University and Research, Rome, Italy.