Tuberous sclerosis (TS) is a rare genetic disease that causes benign tumors in the brain and in other organs such as the kidneys and heart. Kidney angiomyolipomas and/or cysts occur in approximately 80% of affected patients and are associated with significant impairment in renal function and hypertension. We examined the impact of hypertension on cardiac geometry and function in TS children without significant primary cardiac involvement.
We describe preliminary analysis in a population of 90 children with TS. All patient underwent standard echocardiography with calculation of LV mass and geometry, as well as measures of traditional and advanced indices of systolic and diastolic function. Left ventricular hypertrophy was defined according to our recent publication (Chinali et al. J Peds 2016). Left function was estimated by ejection fraction and mechanical function by midwall fractional shortening. Systolic mechanics were further investigated by 2D speckle tracking strain. Diastolic function was evaluated by transmitral Doppler and Tissue Doppler Imaging at the mitral annulus and lateral wall, to obtain estimates of left ventricular filling pressure. Findings were compared to a similar healthy population of 90 children.
TS patients showed higher values of both systolic and diastolic blood pressure as compared to controls. When comparing cardiac geometry and function TS children showed higher left ventricular mass index and more concentric type geometry, resulting in significantly higher prevalence of clear-cut ventricular hypertrophy (LVH) as compared to normal children. LVH was also associated with mildly reduced midwall fractional shortening pairing impaired LV strain, despite no difference in left ventricular ejection fraction. Analysis of diastolic function showed mild differences in mitral tissue doppler velocities, resulting in mildly higher estimated left ventricular filling pressures in the TS group.
Our preliminary analysis suggests that in TS children, higher blood pressure results in significant impairment in cardiac geometry and function.
