Peripheral pulmonary artery stenosis (PPS) is a narrowing in one or more of the branches of pulmonary arteries, and is necessary to distinguish from pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension. PPS is classified as group 5 in the NICE classification of pulmonary hypertension (2013) and there are increasing reports of adult patients with isolated PPS, not associated with congenital heart diseases. Recently, a variant of c.14429G>A (p.Arg4810Lys, rs112735431) in the Ring Finger Protein 213 (RNF213) gene, a well-known susceptibility gene for Moyamoya disease, has been also reported to link the onset and progression of the various vascular diseases including PPS, renal artery stenosis, and intracranial major artery stenosis/occlusion, and the risk of ischemic stroke attributable to large-artery atherosclerosis. In this report, we summarize this new concept of “RNF213 vasculopathy”, which should be paid more attention to because that ～1% of Japanese subjects carry this p.Arg4810Lys variant and genetic testing of RNF213 might be useful to identify and manage high-risk patients and/or family members for multiple vascular diseases.

In recent years, cardiovascular diseases related to atherosclerosis are on the rise due to the increase in lifestyle-related diseases and aging population. CT and catheterization, which are essential for the diagnosis of cardiovascular diseases, use X-ray irradiation, and therefore, the effects of radiation exposure not only on patients but also on medical workers should be taken into consideration. This paper outlines the effects of radiation on the human body and its biological dosimetry, and discusses the extent to which radiation actually has biological effects on patients and operators.

Most hereditary aortic diseases, including Marfan syndrome, are caused by mutations in a single gene. Early diagnosis and management utilizing genetic testing can slow the progression of aortic lesions and reduce the risk of dissection. In addition, since the clinical course and complications of hereditary aortic diseases tend to differ according to the causative gene, genetic testing is useful to establish a treatment and management policy tailored to each gene. When performing genetic testing, the physician should understand the principles of interpretation of test reports for pathogenicity assessment.