Whole-brain dynamic CT angiography and perfusion imaging.

The availability of whole brain computed tomography (CT) perfusion has expanded the opportunities for analysing the haemodynamic parameters associated with varied neurological conditions. Examples demonstrating the clinical utility of whole-brain CT perfusion imaging in selected acute and chronic ischaemic arterial neurovascular conditions are presented. Whole-brain CT perfusion enables the detection and focused haemodynamic analyses of acute and chronic arterial conditions in the central nervous system without the limitation of partial anatomical coverage of the brain.

Steroid-responsive large vessel vasculitis: application of whole-brain 320-detector row dynamic volume CT angiography and perfusion.

SUMMARY: A patient with suspected giant cell arteritis and prior negative findings on superficial temporal artery biopsy was evaluated with 320-detector row CT angiography (CTA) and whole-brain perfusion. Corticosteroid treatment was initiated on the basis of CT angiography findings of arteritis and a cortical perfusion deficit. The patient's symptoms and perfusion imaging findings resolved following therapy. Whole-brain CTA and imaging was helpful in the diagnosis and monitoring this patient with suspected vasculitis.

An aviator with cardiomyopathy and genetic susceptibility to hereditary hemochromatosis: a case report.

A 44-yr-old male pilot was diagnosed with non-ischemic cardiomyopathy, possibly as a complication of hereditary hemochromatosis, 8 yr after an acquired left bundle branch block was discovered on a routine ECG. Biochemical testing returned high levels of iron and percentage transferrin saturation, and genetic testing for hemochromatosis was remarkable for a heterozygous H63D mutation in the HFE gene on chromosome 6. Hereditary hemochromatosis should be considered in the differential diagnosis when a patient presents with cardiomyopathy and genetic testing for HFE gene variants influencing iron overload is now available as a clinical adjunct for diagnosis and patient management issues. Cardiomyopathy and symptomatic hemochromatosis are aeromedically disqualifying conditions in the U.S. Air Force; however, early identification of hereditary hemochromatosis susceptibility with biochemical or genetic diagnostic tests, followed by education in primary and secondary prevention, will prevent a significant proportion of the possible sequelae.

HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology.

Hereditary hemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and deposition in the liver, pancreas, heart, joints, and pituitary gland. Without treatment, death may occur from cirrhosis, primary liver cancer, diabetes, or cardiomyopathy. In 1996, HFE, the gene for HHC, was mapped on the short arm of chromosome 6 (6p21.3). Two of the 37 allelic variants of HFE described to date (C282Y and H63D) are significantly correlated with HHC. Homozygosity for the C282Y mutation was found in 52-100% of previous studies on clinically diagnosed probands. In this review, 5% of HHC probands were found to be compound heterozygotes (C282Y/H63D), and 1.5% were homozygous for the H63D mutation; 3.6% were C282Y heterozygotes, and 5.2% were H63D heterozygotes. In 7% of cases, C282Y and H63D mutations were not present. In the general population, the frequency of the C282Y/C282Y genotype is 0.4%. C282Y heterozygosity ranges from 9.2% in Europeans to nil in Asian, Indian subcontinent, African/Middle Eastern, and Australasian populations. The H63D carrier frequency is 22% in European populations. Accurate data on the penetrance of the different HFE genotypes are not available. Extrapolating from limited clinical observations in screening studies, an estimated 40--70% of persons with the C282Y homozygous genotype will develop clinical evidence of iron overload. A smaller proportion will die from complications of iron overload. To date, population screening for HHC is not recommended because of uncertainties about optimal screening strategies, optimal care for susceptible persons, laboratory standardization, and the potential for stigmatization or discrimination.