Rare Diseases Symptoms Automatic Extraction

SPECT myocardial perfusion in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

[cadasil]

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary small vessel disease. Although the symptoms are exclusively neurological, arteriopathy is generalized. We performed cardiac evaluation using myocardial perfusion single photon emission computed tomography (SPECT), dual-source 128-channel multidetector computed tomography (MDCT) angiogram, echocardiogram, and electrocardiogram (ECG) in a 46-year-old woman with CADASIL. No abnormal findings were observed on MDCT angiogram, echocardiogram, or ECG. However, SPECT demonstrated reversible perfusion defects in the left anterior descending artery territory. We suggest that myocardial perfusion SPECT is a valuable tool to identify risk from cardiovascular accident in CADASIL patients.