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Early Vascular Aging in Children With Tuberous Sclerosis Complex
Piotr Skrzypczyk1, Anna Maria Wabik1, Michał Szyszka2
1Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland.
Insights
Children with tuberous sclerosis complex (TSC) show increased central blood pressure and early vascular aging, linked to kidney issues. These findings highlight the importance of monitoring cardiovascular health in pediatric TSC patients.
Area of Science:
- Cardiovascular Research
- Pediatric Nephrology
- Genetics and Rare Diseases
Background:
- Activating mutations in the mTOR pathway are linked to abnormal arterial structure.
- Tuberous Sclerosis Complex (TSC) is associated with vascular anomalies and renal lesions.
- Renal lesions in TSC patients increase the risk of arterial hypertension.
Purpose of the Study:
- To assess blood pressure, central blood pressure, and arterial damage (early vascular aging) in children with TSC.
- To investigate the relationship between renal involvement and cardiovascular parameters in pediatric TSC patients.
Main Methods:
- Evaluated 33 pediatric TSC patients and 33 healthy children.
- Assessed peripheral and central blood pressure, 24-h ambulatory blood pressure.
- Measured arterial damage including aortic pulse wave velocity (aPWV), common carotid artery intima-media thickness (cIMT), and augmentation index (AIx75HR).
- Utilized magnetic resonance and ultrasonography for renal lesion assessment.
- Analyzed selected biochemical parameters and daily urinary albumin loss.
Main Results:
- Children with TSC exhibited higher central systolic blood pressure (AoSBP), cIMT, cIMT Z-score, aPWV, and aPWV Z-score compared to controls.
- 21.2% of TSC patients had arterial hypertension; 81.8% had renal angiomyolipomas and 78.8% had renal cysts.
- AoSBP correlated positively with serum cystatin C and maximum renal cyst diameter.
- 24-h MAP Z-score correlated with serum cystatin C; aPWV Z-score correlated with daily urinary albumin loss.
Conclusions:
- Pediatric patients with TSC are at increased risk for elevated central blood pressure and early vascular aging.
- Blood pressure and arterial stiffness in children with TSC are significantly associated with renal involvement.
- Early detection and management of cardiovascular risks are crucial in children with TSC.
Abstract:
Objectives: Experimental data indicate that activating mutations in the mTOR (mammalian target of rapamycin) pathway may lead to abnormal arterial wall structure. Vascular anomalies like arterial stenoses are reported in pediatric patients with tuberous sclerosis complex (TSC). In addition, large renal lesions (angiomyolipoma-AML and cysts) are risk factors for arterial hypertension in adult patients with TSC. This study aimed to assess blood pressure, including central blood pressure and arterial damage (early vascular aging-EVA) in children with TSC. Materials and Methods: In a group of 33 pediatric patients with TSC (11.13 ± 4.03 years, 15 boys, 18 girls), we evaluated peripheral and central office blood pressure, 24-h ambulatory blood pressure, and arterial damage: aortic pulse wave velocity (aPWV) [m/s], [Z-score], augmentation index (AIx75HR [%]), common carotid artery intima-media thickness (cIMT) [mm], [Z-score], stiffness of common carotid artery (E-tracking), renal lesions in magnetic resonance and ultrasonography, and selected biochemical parameters. The control group consisted of 33 healthy children (11.23 ± 3.28 years, 15 boys, 18 girls). Results: In TSC group 7 (21.2%) children had arterial hypertension, 27 (81.8%) children had renal angiomyolipomas, 26 (78.8%)-renal cysts, and 4 (12.1%) patients were treated with mTOR inhibitors (2 patients with everolimus and 2 patients with sirolimus) at the moment of evaluation. Children with TSC had higher central systolic blood pressure (AoSBP) (98.63 ± 9.65 vs. 90.45 ± 6.87 [mm Hg], p < 0.001), cIMT (0.42 ± 0.05 vs. 0.39 ± 0.03 [mm], p = 0.011), cIMT Z-score (0.81 ± 1.21 vs. 0.16 ± 0.57, p = 0.007), aPWV (4.78 ± 0.81 vs. 4.25 ± 0.56 [m/s], p = 0.003) and aPWV Z-score (-0.14 ± 1.15 vs. -0.96 ± 0.87, p = 0.002) compared to healthy children, without differences in AIx75HR (8.71 ± 15.90 vs. 5.24 ± 11.12 [%], p = 0.319) and stiffness of common carotid artery. In children with TSC AoSBP correlated positively with serum cystatin C concentration (r = 0.377, p = 0.030) and with maximum diameter of renal cyst (R = 0.419, p = 0.033); mean arterial pressure (MAP) 24 h Z-score correlated with serum cystatin C concentration (R = 0.433, p = 0.013); and aPWV Z-score with daily urinary albumin loss [mg/24 h] (R = 0.412, p = 0.029). Conclusions: Children with tuberous sclerosis complex are at risk of elevated central blood pressure and early vascular aging. In children with TSC, blood pressure and arterial stiffness are related to renal involvement.
