A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy.

Objectives: A few studies reported that some mutations in the cardiac myosin-binding protein C (MyBPC) gene were associated with dilated phase of hypertrophic cardiomyopathy (D-HCM) resembling dilated cardiomyopathy (DCM). We studied 5 unrelated cardiomyopathy probands caused by an identical mutation in the MyBPC gene. The results of clinical and genetic investigations in these patients are presented in this paper.

Improvement in prognosis of dilated cardiomyopathy in the elderly over the past 20 years.

Background And Purpose: Although dilated cardiomyopathy (DCM) had a poor prognosis in the past, recent studies have shown better survival. However, little is known about the improvement of prognosis in the elderly. This study sought to clarify the changes in prognosis in elderly patients with DCM over the past 20 years.

Hypertrophic cardiomyopathy with mild left ventricular remodeling: echocardiographic assessment using left ventricular wall motion score.

Objectives: The present study sought to investigate the echocardiographic features of hypertrophic cardiomyopathy (HCM) with mild left ventricular (LV) remodeling, particularly in relation to wall motion abnormalities.

Methods: Among the 137 consecutive patients with HCM, 13 patients (mean age 52 +/- 13 years) who progressed to mild LV systolic dysfunction (LV ejection fraction (LVEF) of 35-50%) were studied. By reviewing the echocardiograms of these patients, wall motion score index (WMSI) was scored using 16 segments model.

Left ventricular remodeling of hypertrophic cardiomyopathy: longitudinal observation in rural community.

Background: The purpose of the present study was to assess the clinical long-term course of hypertrophic cardiomyopathy (HCM) in a rural Japanese cohort.

Methods And Results: A total of 137 consecutive HCM patients (mean age at diagnosis: 52+/-13 years) were enrolled. During a follow-up period of 11.

Long-term prognosis of dilated cardiomyopathy revisited: an improvement in survival over the past 20 years.

Background: Because of their favorable prognostic effects, angiotensin converting enzyme inhibitors (ACEI), angiotensin II receptor blockers (ARB) and beta blockers have become background therapy in dilated cardiomyopathy (DCM). However, there are few reports concerning the long-term prognosis of Japanese patients with DCM in relation to these treatments.

Methods And Results: One hundred and fifty patients with DCM were divided into 2 groups: group A (n=46) (diagnosis: 1982-1989) and group B (n=104) (diagnosis: 1990-2002).

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy.

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder characterized by loss of cardiomyocytes and their replacement by adipose and fibrous tissue. It is considered a disease of cell adhesion because mutations in desmosomal genes, desmoplakin and plakoglobin, have been implicated in the pathogenesis of ARVC. In a recent report, mutations in plakophilin-2, a gene highly expressed in cardiac desmosomes, have been shown to cause ARVC.

[Discrete subaortic stenosis with pressure recovery: a case report].

A 54-year-old woman with subvalvular aortic stenosis was admitted to our hospital. The pressure gradient across the left ventricular outflow tract was estimated as 88 mmHg (peak) and 45 mmHg (mean) by Doppler echocardiography, but only 14 mmHg (peak to peak) and 31 mmHg (mean) by cardiac catheterization. We considered this discrepancy attributable to the presence of moderate aortic regurgitation and the pressure recovery phenomenon.

Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among Japanese.

Objectives: We studied the longitudinal evolution of hypertrophic cardiomyopathy (HCM) caused by a founder frameshift mutation in the cardiac myosin-binding protein C (MyBPC) gene.

Background: Mutations in the MyBPC gene have been associated with delayed expression of HCM and a good prognosis. Few studies, however, demonstrated the phenotype-genotype correlations in the longitudinal study.

Comparison of prevalence of apical hypertrophic cardiomyopathy in Japan and the United States.

The morphologic apical form of hypertrophic cardiomyopathy (HC), in which left ventricular (LV) wall thickening is confined to the most distal region at the apex, has been regarded as a phenotypic expression of nonobstructive HC largely unique to Japanese patients. To investigate this question further, we directly compared unselected and regional hospital-based cohorts of adult patients with HC ( > or =18 years of age) from Japan (Kochi; n=100) and from the United States (US) (Minneapolis; n=361). Japanese and American patients with HC had similar clinical features and did not differ significantly with regard to the severity of symptoms and frequency of outflow obstruction.

Prognostic significance of post-exercise blood pressure response in patients with dilated cardiomyopathy.

Background And Objectives: The occurrence of an abnormal cardiovascular response during exercise in patients with chronic heart failure is well known. Post-exercise blood pressure response is also useful in assessing the severity of heart failure and impaired exercise capacity. This study evaluated the prognostic significance of post-exercise blood pressure response in patients with dilated cardiomyopathy.