Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design.

INTRODUCTION: Familial hypercholesterolaemia (FH) is an autosomal-dominant inherited genetic disease. It carries an extremely high cardiovascular risk associated with significantly elevated low-density lipoprotein (LDL) cholesterol. The diagnostic rate of this disease in some European nations is quite high, due to the presence of multiple prospective registries. On the other hand, few data-and in particular multicentre data-exist regarding this issue among Japanese subjects. Therefore, this study intends to assemble a multicentre registry that aims to comprehensively assess cardiovascular risk among Japanese FH patients while taking into account their genetic backgrounds. METHODS AND ANALYSIS: The Hokuriku-plus FH registry is a prospective, observational, multicentre cohort study, enrolling consecutive FH patients who fulfil the clinical criteria of FH in Japan from 37 participating hospitals mostly in Hokuriku region of Japan from April 2020 to March 2024. A total of 1000 patients will be enrolled into the study, and we plan to follow-up participants over 5 years. We will collect clinical parameters, including lipids, physical findings, genetic backgrounds and clinical events covering atherosclerotic and other important events, such as malignancies. The primary endpoint of this study is new atherosclerotic cardiovascular disease (ASCVD) events. The secondary endpoints are as follows: LDL cholesterol, secondary ASCVD events and the occurrence of other diseases including hypertension, diabetes and malignancies. ETHICS AND DISSEMINATION: This study is being conducted in compliance with the Declaration of Helsinki, the Ethical Guidelines for Medical and Health Research Involving Human Subjects, and all other applicable laws and guidelines in Japan. This study protocol has been approved by the Institutional Review Board at Kanazawa University. We will disseminate the final results at international conferences and in a peer-reviewed journal. TRIAL REGISTRATION NUMBER: UMIN000038210.

Tumor-to-tumor metastasis: report of an autopsy case of lung adenocarcinoma metastasizing to renal cell carcinoma.

Metastasis of one tumor to another tumor within the same individual is considered rare. Lung cancer metastatic to renal cell carcinoma represents the most common combination of such tumor-to-tumor metastases. We present the autopsy case of a 97-year-old woman with metastatic adenocarcinoma of the lung to renal cell carcinoma.

Three cases of iatrogenic coronary ostial stenosis after aortic valve replacement.

BACKGROUND: Iatrogenic coronary ostial stenosis (ICOS) is a rare but potentially life-threatening complication of aortic valve replacement (AVR). This complication is usually diagnosed by angiography and treated with aortocoronary bypass surgery. CASE REPORTS: In the present 3 cases pre-operative coronary angiography confirmed normal coronary arteries and they underwent uncomplicated AVR. Coronary lesions were clinically manifest within 4 months after surgery, and repeat coronary angiography demonstrated bilateral ostial stenosis in 1 patient and left main trunk stenosis in the other 2. Two cases were detected by multidetector computed tomography (MDCT) before angiography. MDCT and Virtual Histology suggested fibrous tissue formation in the lesions. All 3 patients were successfully underwent percutaneous coronary intervention (PCI) and stenting. The post-procedure clinical course has been uneventful, except for elective stenting of a recurrent lesion in 1 asymptomatic patient. CONCLUSIONS: The incidence of ICOS after AVR is low. Noninvasive MDCT is useful for early diagnosis and PCI is a possible alternative treatment. ICOS may be caused by fibrous tissue formation, and therefore be distinct from conventional atherosclerosis.

Difference in coronary blood flow dynamics between patients with hypertension and those with hypertrophic cardiomyopathy.

We studied twelve patients with hypertensive left ventricular hypertrophy (LVH), 10 patients with hypertrophic cardiomyopathy (HCM) and 10 control subjects to examine the differences in coronary blood flow (CBF) dynamics between patients with hypertensive LVH and those with HCM. All subjects had normal coronary arteriograms. Measurements of CBF using Doppler Flo-Wire were performed at rest, and after infusions of acetylcholine and papaverine. The baseline CBF was significantly increased in both hypertensive LVH patients and HCM patients compared to that noted in control subjects (64.1+/-36.9, 80.0+/-38.1, 32.3+/-8.0 ml/min, respectively, p<0.01). Coronary flow reserve and endothelium-dependent vasodilatation were significantly lower in hypertensive LVH patients and HCM patients than in control subjects, but there was no significant difference between the hypertensive LVH and HCM patients themselves. In contrast, the diastolic/systolic velocity ratio at baseline was significantly lower in hypertensive LVH patients than in HCM patients (1.53+/-0.40, 6.31+/-7.50, p<0.05). Although CBF and coronary flow reserve correlated positively and negatively, respectively, with left ventricular mass index (r=0.51, -0.59, respectively), the diastolic/systolic velocity ratio at baseline did not show a significant correlation to left ventricular mass index. In conclusion, the diastolic/systolic velocity ratio differed between hypertensive LVH and HCM patients, independent of left ventricular mass. These results suggest that the difference of phasic pattern of CBF may be essential for coronary circulation in patients with hypertensive LVH and in those with HCM.