Early Vascular Aging in Children With Tuberous Sclerosis Complex

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.