Investigation of circle of Willis variants and hemodynamic parameters in twins using transcranial color-coded Doppler

Bianka Forgó1, Ádám Domonkos Tárnoki2,3, Dávid László Tárnoki2,3

  • 1Department of Radiology, Semmelweis University, Üllői Street 78/A, Budapest, 1082, Hungary. fbia021@gmail.com.

Insights

Circle of Willis (CW) anatomical variations appear to be influenced by environmental factors, not genetics. However, hemodynamic parameters of the CW show moderate heritability, potentially impacting cerebrovascular disease prevention.

Area of Science:

  • Neuroscience
  • Genetics
  • Vascular Biology

Background:

  • Cerebrovascular events are influenced by variations in the Circle of Willis (CW).
  • The genetic and environmental contributions to these variations are not well understood.

Purpose of the Study:

  • To investigate the heritability of Circle of Willis (CW) morphological and hemodynamic variations.
  • To assess the influence of genetic versus environmental factors on CW anatomy and blood flow parameters.

Main Methods:

  • Utilized transcranial color-coded sonography (TCCS) in 64 twin pairs (19 monozygotic, 13 dizygotic).
  • Assessed CW morphology, peak systolic velocity (PSV), end-diastolic velocity (EDV), and pulsatility index (PI).
  • Calculated heritability for hemodynamic parameters and concordance rates for morphological variants.

Main Results:

  • A normal CW anatomy was found in most twins (76.5% MZ, 92.3% DZ).
  • The most common variant was a missing anterior cerebral artery (ACA).
  • Low concordance rates for CW variants in both MZ and DZ twins suggest environmental influence; hemodynamic parameters showed moderate heritability.

Conclusions:

  • Morphological variations of the Circle of Willis (CW) are likely determined by environmental factors, not genetic inheritance.
  • Hemodynamic parameters of the CW exhibit moderate heritability, suggesting implications for cerebrovascular disease management and prevention strategies.

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