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Stroke. 2008;39:2155-2157
Published online before print May 1, 2008, doi: 10.1161/STROKEAHA.107.506311
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(Stroke. 2008;39:2155.)
© 2008 American Heart Association, Inc.


Research Letters

Right-to-Left Shunt in CADASIL Patients

Prevalence and Correlation With Clinical and MRI Findings

Enza Zicari, MD; Rossana Tassi, MD; Maria L. Stromillo, MD; Michele Pellegrini, MD; Silvia Bianchi, PhD; Gabriele Cevenini, PhD; Massimo Gistri, BSc; Nicola De Stefano, MD; Antonio Federico, MD Maria T. Dotti, MD

From Dipartimento di Scienze Neurologiche e del Comportamento (E.Z., M.L.S., M.P., S.B., N.D.S., A.F., M.T.D.) and Dipartimento di Chirurgia e Bioingegneria (G.C.), Università di Siena, Italia; and UO Neurologia (R.T., M.G.), AOUS, Siena Italia.

Correspondence to Professor Maria Teresa Dotti, MD, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci, 1, 53100 Siena, Italy. E-mail dotti{at}unisi.it

Abstract

Background and Purpose— 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.

Conclusion— 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.


Key Words: right-to-left shunt • patent foramen ovale • Transcranial Doppler • CADASIL