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Coronary microvascular function is impaired in patients with cerebral autosomal dominant arteriopathy with

Alessia Argirò1, Roberto Sciagrà2, Alberto Marchi1

  • 1Referral Center for Myocardial Diseases, University of Florence, AOU Careggi, Florence, Italy.

European Journal of Neurology
|December 14, 2020
PubMed

Insights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients show reduced coronary flow reserve (CFR), indicating coronary microvascular dysfunction (CMD). This cardiac issue is independent of brain damage severity, suggesting systemic microcirculation involvement.

Area of Science:

  • Cardiology
  • Neurology
  • Genetics

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare inherited neurological disorder caused by NOTCH3 gene mutations.
  • While primarily affecting the brain, CADASIL is recognized as a systemic microangiopathy with potential cardiac implications.
  • Cardiac involvement in CADASIL has been noted but not systematically evaluated, prompting this investigation.

Purpose of the Study:

  • To investigate the prevalence and severity of coronary microvascular dysfunction (CMD) in patients diagnosed with CADASIL.
  • To assess the relationship between CMD and neurological/neuropsychological parameters in CADASIL patients.

Main Methods:

  • Seventeen genetically confirmed CADASIL patients (<60 years, ≤1 cardiovascular risk factor) underwent comprehensive assessments.
  • Methods included neurological/neuropsychological evaluation, 3T brain MRI, ECG, echocardiography, and myocardial blood flow (MBF) measurement using 13NH3-PET.
  • Coronary flow reserve (CFR) was calculated (maximal MBF/resting MBF) and compared to 15 age/sex-matched healthy controls.

Main Results:

  • Migraine was present in 71% of CADASIL patients; none had cognitive impairment or ECG/echocardiography abnormalities.
  • CADASIL patients exhibited significantly blunted maximal MBF and CFR compared to controls (p < 0.01 for both).
  • No correlation was found between MBF values and neuropsychological performance or cerebral lesion burden on MRI.

Conclusions:

  • CADASIL patients demonstrate impaired CFR, indicative of coronary microvascular dysfunction (CMD).
  • This CMD is a systemic manifestation of CADASIL, independent of brain lesion severity or cognitive status.
  • Active cardiac surveillance is recommended for CADASIL patients due to systemic microcirculation disease involvement.
Abstract

Keywords:
CADASILcoronary microvascular dysfunctionpositron emission tomography

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