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Assessing cardiovascular risk in ATM heterozygotes
Elaine Cristina de Almeida Kotchetkoff1, Fabíola Isabel Suano de Souza1, Fernando Luiz Affonso Fonseca2
1Pediatrics Department, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Parents of ataxia-telangiectasia patients often show increased carotid intima-media thickness, a cardiovascular risk marker. Monitoring CIMC and nutritional guidance are recommended for these individuals.
Area of Science:
- Cardiovascular disease research
- Genetics and inherited disorders
- Biomarker analysis
Background:
- Ataxia-telangiectasia (ATM) is an inherited disorder.
- Cardiovascular risk (CR) assessment is crucial in families with genetic conditions.
- Carotid intima-media complex (CIMC) thickness is a predictor of cardiovascular events.
Purpose of the Study:
- To evaluate CIMC thickness and lipid metabolism biomarkers in parents of ataxia-telangiectasia patients.
- To assess cardiovascular risk in ATM heterozygotes.
- To investigate the association between these markers and gender.
Main Methods:
- Cross-sectional, controlled study design.
- Inclusion of 29 ATM heterozygotes and 14 healthy controls.
- Biochemical tests and CIMC thickness measurements were performed.
Main Results:
- ATM heterozygotes showed increased CIMC thickness compared to population referentials (76.2%).
- No significant gender differences in CIMC thickness were observed.
- Heterozygous women had higher HDL-c and hs-CRP levels than men, with an inverse correlation between HDL-c and hs-CRP.
Conclusions:
- ATM heterozygotes did not differ in studied CR biomarkers but exhibited increased CIMC thickness.
- Elevated CIMC suggests cardiovascular risk in ATM heterozygotes.
- Monitoring CIMC thickness and providing nutritional guidance are recommended.
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