Danon Disease Presenting with Slowly Progressive Cardiomyopathy and Harboring a Novel Missense Variant in the Lysosome-associated Membrane Protein Type 2 (LAMP-2) gene: A Case Report.

Danon disease (DD) is a rare lysosomal storage disorder resulting from pathogenic variants of the lysosome-associated membrane protein type 2 (LAMP-2) gene. The disease is characterized by severe cardiomyopathy, which rapidly progresses to end-stage heart failure. This case, with DD caused by a missense variant, exhibited slow progressive cardiomyopathy and survived for an extended period despite being a male.

Coronary intervention for severe stenosis in the ostial right coronary artery with cardiac angiosarcoma: a case report.

Background: Although rare, angiosarcoma is the most common type of cardiac primary malignancy. This disease can cause life-threatening complications and the prognosis remains poor. There is no standard approach to care, and clinical judgement is exercised on a case-by-case basis.

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.

Impact of combined lipid lowering and blood pressure control on coronary plaque: myocardial ischemia treated by percutaneous coronary intervention and plaque regression by lipid lowering and blood pressure controlling assessed by intravascular ultrasonography (MILLION) study.

The aim of the study was to elucidate the aggressive reduction of both low-density lipoprotein cholesterol (LDL-C) and blood pressure (BP) reduced coronary atherosclerotic plaque volume compared with a standard treatment of LDL-C and BP in Japanese patients with coronary artery disease (CAD). This study is a prospective, randomized, and open-labelled with a blind-endpoint evaluation study. A total of 97 patients (81 men, mean age 62.

Impact of Distal Protection with Filter-Type Device on Long-term Outcome after Percutaneous Coronary Intervention for Acute Myocardial Infarction: Clinical Results with Filtrap.

Aim: Although distal embolization during percutaneous coronary intervention (PCI) for acute myocardial infarction (AMI) deteriorates cardiac function, whether distal protection (DP) can improve prognosis is still controversial. We investigated whether a filter-type DP device, Filtrap, could improve long-term outcomes after PCI for AMI.

Method: We studied 164 patients (130 men, mean age: 65.

Impact of thin-cap fibroatheroma on predicting deteriorated coronary flow during interventional procedures in acute as well as stable coronary syndromes: insights from optical coherence tomography analysis.

The occurrence of deteriorated coronary flow associated with distal embolization during percutaneous coronary intervention results in impaired myocardial perfusion and worsens the clinical prognosis. This study aimed to examine the impact of optical coherence tomography (OCT)-determined coronary plaque morphology on the prediction of deteriorated coronary flow after stent implantation in acute as well as stable coronary syndromes (ACS and SAP, respectively). We studied 126 patients who underwent OCT during stenting for ACS (n = 44) and SAP (n = 82) with a de novo lesion.

Impact of combined lipid lowering with blood pressure control on coronary plaque regression: rationale and design of MILLION study.

A line of epidemiological studies suggests that the accumulation of coronary risk factors promotes the progression of coronary atherosclerosis. Recent clinical studies showed that aggressive low-density lipoprotein (LDL) cholesterol-lowering therapy using statins could regress coronary atheroma and reduce major cardiovascular events. Additionally, therapy that controlled amlodipine-based blood pressure reduced major cardiovascular events in patients with hypertension compared with an atenolol-based regimen.

Comparison of sirolimus-eluting, paclitaxel-eluting, and bare-metal stents in a patient with angina pectoris: histopathological autopsy findings of the third month.

A 67-year-old man with a more than 15-year-old history of hypertension, dyslipidemia, and glucose intolerance presented at our hospital with exertional angina. Coronary angiography showed considerable stenosis of 3 vessels. A diffuse calcified lesion in the left anterior descending coronary artery was pre-treated using rotational atherectomy followed by sirolimus-eluting stent (SES) implantation.

Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo.

Background: Autosomal recessive hypercholesterolemia (ARH) exhibits different responsiveness to statins compared with that in homozygous familial hypercholesterolemia (FH). However, few data exist regarding lipoprotein metabolism of ARH. Therefore, we aimed to clarify lipoprotein metabolism, especially the remnant lipoprotein fractions of ARH before and after statin therapy.

Novel mutations of cholesteryl ester transfer protein (CETP) gene in Japanese hyperalphalipoproteinemic subjects.

Background: The half of hyperalphalipoproteinemia (HALP) in Japan is caused by CETP gene mutations. Other than two prevalent mutations (D442G and Intron 14 splicing donor site +1G>A), some rare CETP mutations are found in Japanese HALP subjects.

Methods: CETP gene analysis of genomic DNA from subjects was performed by restriction fragment length polymorphism (RFLP) and sequencing analysis.

Spontaneous healing of posttraumatic focal coronary aneurysm: a case report.

We report on the spontaneous healing of a posttraumatic focal coronary aneurysm in a previously healthy 61-year-old man after his involvement in a motor vehicle accident, resulting in blunt chest trauma that injured the anterior wall of his left ventricle. Left-sided cardiac catheterization and selective coronary angiography 1 month after the accident showed an aneurysm in the proximal part of the left anterior descending artery, and normal coronary arteries otherwise. Intravascular ultrasound revealed that the lesion was a pseudoaneurysm protruding toward the myocardium.

Intravascular ultrasound appearance of scattered necrotic core as an index for deterioration of coronary flow during intervention in acute coronary syndrome.

In acute coronary syndrome (ACS) patients with deterioration of coronary flow during percutaneous coronary intervention (PCI), a scattered necrotic core pattern (SNC) is observed by intravascular ultrasound virtual histology (VH-IVUS). The purpose of this study was to evaluate the impact of SNC on deterioration of coronary flow during PCI in ACS. A total of 38 ACS patients were imaged using VH-IVUS before PCI.

Transition of the ST segment from a J wave to a coved-type elevation before ventricular fibrillation induced by coronary vasospasm in the precordial leads.

We describe the case of a 63-year-old man whose electrocardiogram showed transition of the ST segment from a J wave to a coved-type elevation in precordial leads before ventricular fibrillation induced by right coronary artery vasospasm. Simultaneously, the ST segment in inferior leads was gradually depressed with a J wave. Considering the sudden death of his son, induced ventricular fibrillation by programmed electrical stimulation, and modulations of the ST segment in the precordial and inferior leads by pilsicainide, some abnormalities in repolarization associated with Brugada syndrome or early repolarization syndrome might have caused these atypical ST-segment manifestations.

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.

Cholesterol efflux from J774 macrophages and Fu5AH hepatoma cells to serum is preserved in CETP-deficient patients.

Background: The role of CETP in the development of atherosclerosis is debatable, and few data exist regarding the total impact of CETP inhibition on cholesterol efflux.

Methods: Acceptor capacities of whole serum and HDL subfractions separated by HPLC were compared using 2 different cell systems. Subjects with CETP deficiency (2 homozygous, 1 compound heterozygous, and 5 heterozygous) were analyzed along with 10 normolipidemic controls.

Complete atrioventricular block associated with takotsubo cardiomyopathy.

An 82-year-old woman was admitted to the hospital due to repeated episodes of syncope with incontinence. Electrocardiography showed torsades de pointes, complete atrioventricular (AV) block, T-wave inversions and a prolonged QTc interval. Urgent coronary angiography showed no significant coronary stenosis and left ventriculography demonstrated typical abnormal wall motion of takotusbo cardiomyopathy.

Combination therapy with oral sildenafil and beraprost for pulmonary arterial hypertension associated with CREST syndrome.

Pulmonary arterial hypertension (PAH) is commonly associated with CREST (Calcinosis, Raynaud phenomenon, Esophageal motility disorders, Sclerodactyly, and Telangiectasia) syndrome. Sildenafil, an oral phosphodiesterase type-5 inhibitor, may offer benefits in the pharmacological management of PAH. However, little is known about the long-term hemodynamic effects of sildenafil, and the potential role of sildenafil in long-term combination with beraprost, an oral prostacyclin analogue, remains unclear.

High frequency of a retinoid X receptor gamma gene variant in familial combined hyperlipidemia that associates with atherogenic dyslipidemia.

Objective: The genetic background of familial combined hyperlipidemia (FCHL) has not been fully clarified. Because several nuclear receptors play pivotal roles in lipid metabolism, we tested the hypothesis that genetic variants of nuclear receptors contribute to FCHL.

Methods And Results: We screened all the coding regions of the PPARalpha, PPARgamma2, PPARdelta, FXR, LXRalpha, and RXRgamma genes in 180 hyperlipidemic patients including 60 FCHL probands.

CETP (cholesteryl ester transfer protein) promoter -1337 C>T polymorphism protects against coronary atherosclerosis in Japanese patients with heterozygous familial hypercholesterolaemia.

CETP (cholesteryl ester transfer protein) and HL (hepatic lipase) play a role in the metabolism of plasma lipoproteins, but the effects of CETP and LIPC (gene encoding HL) genotypes on coronary atherosclerosis may be dependent on LDL (low-density lipoprotein)-receptor activity. Recently, the -1337 C>T polymorphism in the CETP gene has been reported in REGRESS (Regression Growth Evaluation Statin Study) to be a major determinant of promoter activity and plasma CETP concentration. In the present study, we have investigated the effects of the CETP promoter -1337 C>T and LIPC promoter -514 C>T polymorphisms on serum lipid profiles and risk of coronary atherosclerosis in 206 patients (154 males) with heterozygous FH (familial hypercholesterolaemia).

Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.

Context: Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder caused by LPL gene mutation and is characterized by severe hyperchylomicronemia. Patients with LPL deficiency suffer from the frequent recurrence of acute pancreatitis, but the underlying mechanisms are not fully understood.

Case Report: A 22-yr-old male Japanese patient with severe hyperchylomicronemia was admitted to our hospital in 1973.