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Article Abstract
Purpose Of Review: The high variability of cardiovascular risk in heterozygous familial hypercholesterolemia (HeFH) is a challenge for therapeutical management. Subclinical cardiovascular imaging represents a tool to overcome this challenge. The purpose of this review is to update the reader on the most recent findings on the non-invasive detection of atherosclerotic burden by carotid doppler ultrasound (US), coronary artery calcium (CAC) score, and computed tomography coronary angiography (CTCA) for the optimization of risk stratification in HeFH subjects.
Recent Findings: Carotid ultrasound (US) proved its efficacy in the long-term follow-up of HeFH children treated early on with statins, showing a significant reduction of atherosclerotic progression compared to untreated unaffected siblings. The added value of CAC score has been confirmed to predict the risk of cardiovascular events and improve risk stratification provided by available risk equations in asymptomatic HeFH subjects from large prospective cross-national cohorts. Additionally, CTCA provides detailed information on plaque quality and stability, but its role in primary prevention HeFH subjects needs to be further explored. Cardiovascular imaging for the detection of subclinical atherosclerotic cardiovascular disease in HeFH is a promising tool to improve diagnostic and therapeutical management of this undertreated and late-diagnosed disease.
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