Cardiac evaluation in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Objectives Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary small vessel disease characterized by mutations in the Notch3 gene. Although the symptoms are almost exclusively neurological, the arteriopathy is generalized. We hypothesized that vascular and functional abnormalities may be exist in cardiovascular system, and performed cardiac evaluation in patients with CADASIL.

Methods Three patients from two families (2 male/1 female; mean age, 41 years) were enrolled. They were confirmed by the identification of a mutation in the Notch3 gene. A medical history was taken if they had past history of cardiovascular diseases. All subjects were examined with myocardial perfusion imaging using Tc-99m tetrofosmin SPECT(MPI), echocardiography, electrocardiogram(ECG) and dual source 128-channel multi-detector CT (MDCT) angiography.

Results All patients had no past history of cardiovascular diseases. Neither luminal narrowing on MDCT angiography, nor abnormalities of regional wall motion, chamber and valvular function on echocardiography was founded in all patients. Left ventricular systolic function and ECG findings were within normal limit. However, MPI demonstrated myocardial perfusion abnormalities including reversible myocardial perfusion defects in 2 patients and reversed reversible perfusion defects in 1 patient.

Conclusions MPI using SPECT noninvasively assessed myocardial perfusion abnormalities, as defined by normal findings on MDCT angiography, echocardiography and ECG, in CADASIL patients with no past history of cardiovascular disease, and thus MPI may be deliver important information for identifying myocardial ischemia and clinical decision making in CADASIL