Published Online
on May 1, 2008

A more recent version of this article appeared on July 1, 2008

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Submitted on October 4, 2007
Revised on November 16, 2007
Accepted on November 29, 2007

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; and 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.

^* To whom correspondence should be addressed. E-mail: dotti{at}unisi.it.

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

This article has been cited by other articles:

				S. Mazzucco, G. P. Anzola, and N. Rizzuto Methodological Issues in Right-to-Left Shunt Detection in CADASIL Patients Stroke, July 1, 2009; 40(7): e509 - e509. [Full Text] [PDF]

				S. Mazzucco, G. P. Anzola, and N. Rizzuto Right-to-Left Shunt in CADASIL Patients: A Comorbidity Factor? Stroke, October 1, 2008; 39(10): e150 - e150. [Full Text] [PDF]