Enormous Aneurysm in Coronary Artery Fistula With Immunoglobulin G4–Related Disease

We report the first case of coronary artery fistula with aneurysmal change in a patient with immunoglobulin G4–related disease (IgG4-RD). This case revealed concomitant coronary artery dilation, pericardial inflammatory nodules, and coronary–pulmonary fistula aneurysm in addition to several IgG4-RD lesions. Each of these features was located in close proximity to the thickened pericardium. These lesions might result from inflammation of the pericardial space, which extended to the coronary–pulmonary artery vessels, leading to aneurysmal formation. This case will enhance our understanding of the pathological mechanisms of IgG4-RD inflammation.     

Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase

Among three unrelated patients with recurrent 2,8-dihydroxyadenine urolithiasis, two completely lacked adenine phosphoribosyltransferase (APRT) in both erythrocytes and proliferative T cells. The third patient possessed significant enzyme activities in both hemolysates and T-cell extracts at levels comparable to heterozygotes for complete APRT deficiency. Despite significant APRT activities in cell extracts, cultured T cells from the third patient were at least 100-fold more resistant than normal T cells to an adenine analog, 6-methylpurine, whose cytotoxicity is dependent on APRT. These data indicate that APRT activity in T cells from the third patient is positive in cell extracts, but apparently not operating in viable cells. Although the cells from the patients with complete APRT deficiency were as resistant to 6-methylpurine as the cells from the third patient, the cells from the heterozygotes for complete APRT deficiency were almost as sensitive as normal T cells. Therefore, adenine metabolism in the third patient but not in the heterozygotes seems to be as severely impaired as in the patients with complete APRT deficiency, which is quite consistent with the clinical manifestations in these individuals.     

Identification of a Novel Titin Variant Underlying Myocardial Involvement in Neurofibromatosis Type 1

Because of the rare co-occurrence, it remains a question whether cardiomyopathy is a true association of neurofibromatosis type 1. A boy with café-au-lait spots manifested restrictive cardiomyopathy. Whole exome sequencing confirmed the genetic diagnosis of neurofibromatosis and further identified a novel titin (TTN) missense variant. The significance of the variant is supported by its de novo origin, in silico predictions, and evolutionary conservation. Modern genetics raises an intriguing explanation for the unexpected phenotype and adds to the evolving role of TTN variants in cardiomyopathy.     

Asthma exacerbations in patients with asthma and rhinitis: Factors associated with asthma exacerbation and its effect on QOL in patients with asthma and rhinitis

BackgroundThe comorbidity of asthma and allergic rhinitis is remarkably high, but not much is known about the effects of this combined condition on the quality of life. We aimed to evaluate the factors associated with asthma exacerbations and the effect of the exacerbations on the quality of life (QOL) through a one-year, large-scale, observational study in Japanese patients with asthma and rhinitis.MethodsA case survey by attending physicians and a patient survey was conducted at each assessment timepoint over a period of one year. Patients were divided into two groups according to the presence or absence of asthmatic attacks after enrollment and were matched using propensity scores to evaluate the factors associated with asthma exacerbations and the effect of the exacerbation on QOL.ResultsPotential factors associated with asthma exacerbations included high body mass index value, low forced expiratory flow 75% of forced vital capacity (FEF75%), severe rhinitis as determined based on ARIA (Allergic Rhinitis and its Impact on Asthma). Although patients with asthma exacerbations had significantly impaired quality of life at baseline as evidenced by the economic aspects, in addition to physical, mental, and social activities, no further reduction with the attacks was observed.ConclusionsThis study suggested that higher body mass index (BMI) and severe asthma as well as severe rhinitis were factors associated with asthma exacerbations. Although patients with asthma exacerbations had impaired QOL, attacks caused no further reduction.     

Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism

Patients with Mulibrey nanism (MUL) present with growth failure and multiple organ manifestations, and MUL is caused by mutations in TRIM37. In this article, we report on the first case series of Japanese patients with MUL who developed congestive heart failure due to constrictive pericarditis. Our case series suggests that early diagnosis and total pericardiectomy before adherence of the pericardium might provide clinical benefit and better prognosis for MUL.     

Echocardiographic study on diastolic posterior wall movement and left ventricular filling by disease category.

The diastolic characteristics of the left ventricle with special reference to the patterns of left ventricular filling and diastolic posterior wall movement were studied echocardiographically in 95 patients with various cardiac conditions including constrictive pericarditis, idiopathic cardiomyopathy (CCM, HCM), valvular aortic stenosis (AS), mitral stenosis (MS), hypertension (HT), aortic insufficiency (AI), mitral insufficiency (MI), and in 20 normal subjects. 1. Various types and severities of LV diastolic abnormalities were revealed by analyzing the patterns of posterior wall movement and LV filling in three diastolic phases--rapid filling period, slow filling period, and atrial filling period, respectively. 2. Disturbances of posterior wall distension and LV filling during the rapid filling period with a compensatory augmentation of atrial contribution to LV filling were observed in most patients. These patients also showed a markedly decreased posterior wall velocity and LV filling rate during rapid filling period. 3. E-F slope was significantly decrease in patients with MS, AS, and HCM. E-F slope correlated well with DPWV and RFR in most patients. In MS, however, DDR decreased to a disproportionate degree with a decrease in DPWV and RFR, probably due to the structural changes and decreased mobility of the mitral valve. From this study, we conclude that the patterns of the left ventricular filling and posterior wall movement during three phases of diastole obtained by echocardiography is useful in detecting left ventricular diastolic abnormalities.     

Shortening Hospital Stay Is Feasible and Safe in Patients With Chronic Thromboembolic Pulmonary Hypertension Treated With Balloon Pulmonary Angioplasty

Background

There is no consensus on the length of hospital stay (LOHS) and post-interventional management after balloon pulmonary angioplasty (BPA) in patients with chronic thromboembolic pulmonary hypertension (CTEPH). We examined temporal trends with respect to LOHS and requirement for intensive care for BPA and their relationship with the incidence of BPA-related complications.

Infective Endocarditis Due to Treponema pallidum: A Case Diagnosed Using Polymerase Chain Reaction Analysis of Aortic Valve

Syphilis is a sexually transmitted disease caused by Treponema pallidum. Syphilitic aortitis might coexist in a dysfunctional aortic valve, but the etiology remains unclear, because microbiological diagnosis is difficult. A 62-year-old man with low-grade fever was diagnosed with aortitis and infective endocarditis, due to Treponema pallidum infection, using polymerase chain reaction analysis. This case suggests that syphilis might cause infective endocarditis.     

Prevalence and Clinical Correlates of Sleep-Disordered Breathing in Patients Hospitalized With Acute Decompensated Heart Failure

Background

Limited data are available regarding the presence of sleep-disordered breathing (SDB) assessed using polysomnography in patients hospitalized with left ventricular (LV) systolic dysfunction after acute decompensated heart failure (ADHF). We investigated the prevalence and clinical correlates of SDB in patients hospitalized with ADHF and LV systolic dysfunction.

The location of the coronary sinus orifice in endocardial cushion defects

Forty-six human hearts with an ECD malformation were studied, particularly examining the anatomical location of the coronary sinus ostium. The sinus opened in the right atrium in 22 cases, and in the left side in 18 cases. Six cases showed no definite coronary sinus ostium.In most cases with a left-side ostium, the posteroinferior position of the atrial septum was absent. The failure of the union of the posteroinferior primum septum with the left atriovenous fold is considered to result in left-side coronary sinus orifices. The mean frontal electrical axis of ECG's showed no relationship with the location of the coronary sinus orifice.     

Relationship between myocardial infarction and preinfarction angina: a histopathological study of coronary arteries in two sudden death cases employing serial section

Two patients who had previously experienced old myocardial infarction and who died suddenly after an attack of chest pain were examined and discussed. In both cases two of the three main coronary arteries showed severe stenosis with canalization. Ruptured atheromatous plaque was found in the unblocked coronary artery. Fibrin was already formed and surrounded the fractured intimal collagen fiber, foam cells, and cholesterin clefts, but a luminal thrombi had not yet been formed. Fresh occluding thrombi were formed at the site of the ruptured atheromatous plaque. Coronary thrombi containing abscess components such as foam cells, cholesterin clefts, and the fractured intimal collagen fiber were found in our preliminary study. These views support the supposition that this fracture between the lumen and the plaque might precede and be responsible for the formation of the thrombus and the onset of acute myocardial infarction. It was confirmed that the attack of preinfarction angina occurred at the time of the rupture of the atheromatous plaque. The rupture of the atheromatous plaque plays an important part as an initiating factor of peinfarction angina and myocardial infarction. Thus, it is necessary to examine coronary arteries by serial histopathological section method.     

P wave changes on exercise in patients with isolated mitral stenosis

Patients with mitral stenosis usually showed a marked increase in the P negativity following exercise. The P terminal force in Lead V₁ in 20 cases with isolated mitral stenosis was ?0.090 mm. sec. before exercise, which changed to ?0.177 mm. sec. following the single Master two-step test.Normal adults never showed such changes on exercise. The phenomenon was considered to be due to the posterior rotation of the P wave vector in the horizontal plane, which was induced by the enlargement of the left atrial wall on exercise.     

Systematic visualization of coronary arteries by two-dimensional echocardiography in children and infants: evaluation in Kawasaki's disease and coronary arteriovenous fistulas

We describe in our report a systematic approach for visualizing in detail coronary artery anatomy by two-dimensional echocardiography (2DE). The approach provides longitudinal and transverse images of the proximal coronaries, as well as transverse images of the anterior descending and right coronary artery tree. The method is delineated by showing certain cases of Kawasaki's disease (MCLS) and coronary arterial fistula. Using these multiple echo planes, the diagnostic accuracy was improved for both right and left coronary arteries.