Prevalence and Clinical Significance of Cardiovascular Abnormalities in Patients With the LEOPARD Syndrome

摘要: The aim of this study was to characterize cardiovascular involvement in a large number patients with LEOPARD syndrome. Twenty-six (age range 0 63 years, median age at the time evaluation 17 years) underwent clinical and genetic investigations. Familial disease ascertained 9 patients. Nineteen (73%) showed electrocardiographic abnormalities. Left ventricular (LV) hypertrophy present 19 (73%), including LV outflow tract obstructions; right 8 (30%). Valve (57%) coronary artery (15%) anomalies were also observed. Single apical aneurysm, noncompaction, isolated dilation, atrioventricular canal defect. During follow-up (9.1 ± 4.5 years), 2 died suddenly, had cardiac arrest. These hypertrophy. Despite limited subjects studied, genotype-phenotype correlations observed familial cases. In conclusion, most syndrome hypertrophy, often association other valvular or congenital defects. A spectrum underrecognized Long-term prognosis benign, but occurrence 4 fatal events indicates that such require careful risk assessment and, some cases, consideration for prophylaxis against sudden death.