Right-to-left shunt in CADASIL patients: prevalence and correlation with clinical and MRI findings.
OBJECTIVE
A high prevalence of right-to-left shunt (RLS) was described in a family of patients with CADASIL, a rare cerebral arteriopathy attributable to Notch3 gene mutations. The aim of this study was to determine the prevalence of RLS in patients with CADASIL and possible relation to clinical phenotype and cerebral MRI lesion load.


METHODS
Twenty-three CADASIL patients underwent Transcranial Doppler with gaseous contrast to asses RLS. Correlations between RLS, clinical features, and MRI lesion volume (LV) were determined.


RESULTS
Large RLS was diagnosed in 47% of patients. No significant clinical or MRI differences were found between patients with and without RLS.


CONCLUSIONS
We found a high prevalence of RLS in our group of CADASIL patients. This may not be a coincidence, but can be rather related to the role of the Notch receptor family in the development of cardiovascular system.
Zicari
Enza
E
Tassi
Rossana
R
Stromillo
Maria L
ML
Pellegrini
Michele
M
Bianchi
Silvia
S
Cevenini
Gabriele
G
Gistri
Massimo
M
De Stefano
Nicola
N
Federico
Antonio
A
Dotti
Maria T
MT
D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D046589:CADASIL / Q000453:epidemiology* / Q000473:pathology / Q000628:therapy*; D005260:Female; D054092:Foramen Ovale, Patent / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D015995:Prevalence; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D018608:Ultrasonography, Doppler / Q000379:methods
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch