Stressing the giant: a new approach to understanding dilated cardiomyopathy.
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ABSTRACT:
SUBMITTER: Greaser ML
PROVIDER: S-EPMC2765063 | biostudies-literature | 2009 Sep
REPOSITORIES: biostudies-literature
Publications
Stressing the giant: a new approach to understanding dilated cardiomyopathy.
Journal of molecular and cellular cardiology 20090622 3
Similar Datasets
Project description:A 47-year-old man with dilated-phase hypertrophic cardiomyopathy was admitted to the hospital with worsening heart failure. As the enlarged atrium caused a constrictive pericarditis-like hemodynamic condition, atrial wall resection and tricuspid valvuloplasty were performed. Postoperatively, pulmonary artery pressure rose due to increased preload; however, the rise in pulmonary artery wedge pressure was restrained, and the cardiac output significantly improved. When the pericardium is extremely stretched due to atrial enlargement, it can lead to an elevation of intrapericardial pressure, and both atrial volume reduction and tricuspid valve plasty could lead to increased compliance and contribute to hemodynamic improvement.Learning objectiveAtrial wall resection for massive atrial enlargement and tricuspid annuloplasty in patients with diastolic-phase hypertrophic cardiomyopathy effectively relieves unstable hemodynamics.
| S-EPMC10173398 | biostudies-literature
Project description:Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure in children with diverse clinical characteristics. To date, DCM with a giant atrium as the first manifestation is rare and has not been reported in previous literature. We report a case of a male infant born with a significantly enlarged right atrium. Due to worsened clinical symptoms and the risk of arrhythmias and thrombosis, we performed the surgical reduction of the right atrium. Unfortunately, DCM and a progressive re-enlargement of the right atrium appeared during midterm follow-up. The mother's echocardiogram also suggested DCM, and the patient was eventually considered for a diagnosis of familial DCM. This case may expand the clinical spectrum of DCM and reminds us of the importance of good follow-up of children with idiopathic dilatation of the right atrium.
| S-EPMC10050595 | biostudies-literature
Project description: Not available
| S-EPMC8291900 | biostudies-literature
Project description:This SuperSeries is composed of the SubSeries listed below.
2024-08-16 | GSE241120 | GEO
Project description:Background: Mutations in genes encoding sarcomere and cytoskeletal proteins are major causes of primary dilated cardiomyopathy (DCM). Likewise, ischemic myocardial injury is a major cause of secondary cardiac remodeling, which, in a subset, is severe and resembles DCM. The latter is referred to as ischemic dilated cardiomyopathy (IDCM). We postulated the presence of pathogenic and likely pathogenic variants (PVs and LPVs, respectively) in genes known to cause primary DCM might predispose the heart to severe cardiac dilatation and dysfunction post myocardial ischemic injury, i.e., IDCM. Methods: We performed whole-exome sequencing in 1,041 patients with primary DCM, 215 patients with IDCM, and 414 healthy controls. Indices of cardiac size and function were similar between those with primary and ischemic DCM. PVs and LPVs, including the truncating variants in 36 genes known to cause primary DCM were identified and compared among the three groups. Results: Pathogenic variants and LPVs were detected in 266 individuals, comprised of 215/1,041 (20.7%) patients with DCM, 27/215 (12.6%) patients with IDCM, and 24/414 (5.8%) control individuals. PVs and LPVs in the TTN gene were the most common and detected in 130/1,041 (12.5%) of patients with DCM, 15/215 (7.0%) of cases with IDCM, and 10/414 (2.4%) control individuals. Of 135 TTNtv, 118 involved exons that were >90% spliced in. These variants were found in 120/1,041 (11.5%) of DCM patients, 6/215 (2.8%) of IDCM cases, and only in 1/414 (0.2%) of the control population (p < 0.001 among the three groups). Conclusions: Pathogenic variants and LPVs in genes known to cause primary DCM are enriched in patients with IDCM, suggesting that such variants function as susceptibility alleles for cardiac dilatation and dysfunction in post myocardial ischemic injury. Thus, IDCM shares a partial genetic etiology with the primary DCM.
| S-EPMC10236477 | biostudies-literature
Project description:Peripartum cardiomyopathy (PPCM) is a severe cardiac disease occurring in the last month of pregnancy or in the first 5 months after delivery and shows many similar clinical characteristics as dilated cardiomyopathy (DCM) such as ventricle dilation and systolic dysfunction. While PPCM was believed to be DCM triggered by pregnancy, more and more studies show important differences between these diseases. While it is likely they share part of their pathogenesis such as increased oxidative stress and an impaired microvasculature, discrepancies seen in disease progression and outcome indicate there must be differences in pathogenesis as well. In this review, we compared studies in DCM and PPCM to search for overlapping and deviating disease etiology, pathogenesis and outcome in order to understand why these cardiomyopathies share similar clinical features but have different underlying pathologies.
| S-EPMC4295435 | biostudies-other
Project description:Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premature death. DCM has a prevalence of one case out of 2500 individuals with an incidence of 7/100,000/year (but may be under diagnosed). In many cases the disease is inherited and is termed familial DCM (FDC). FDC may account for 20-48% of DCM. FDC is principally caused by genetic mutations in FDC genes that encode for cytoskeletal and sarcomeric proteins in the cardiac myocyte. Family history analysis is an important tool for identifying families affected by FDC. Standard criteria for evaluating FDC families have been published and the use of such criteria is increasing. Clinical genetic testing has been developed for some FDC genes and will be increasingly utilized for evaluating FDC families. Through the use of family screening by pedigree analysis and/or genetic testing, it is possible to identify patients at earlier, or even presymptomatic stages of their disease. This presents an opportunity to invoke lifestyle changes and to provide pharmacological therapy earlier in the course of disease. Genetic counseling is used to identify additional asymptomatic family members who are at risk of developing symptoms, allowing for regular screening of these individuals. The management of FDC focuses on limiting the progression of heart failure and controlling arrhythmia, and is based on currently accepted treatment guidelines for DCM. It includes general measures (salt and fluid restriction, treatment of hypertension, limitation of alcohol intake, control of body weight, moderate exercise) and pharmacotherapy. Cardiac resynchronization, implantable cardioverter defibrillators and left ventricular assist devices have progressively expanding usage. Patients with severe heart failure, severe reduction of the functional capacity and depressed left ventricular ejection fraction have a low survival rate and may require heart transplant.
| S-EPMC1559590 | biostudies-literature
Project description:BackgroundCardiac manifestations are infrequently reported in association with celiac disease, but clear link has not been established. The aim of this study was to explore the connection of dilated cardiomyopathy in celiac disease. This systematic review also provides a comprehensive overview of the association between celiac disease and various cardiac manifestations with pathophysiology and management.Main bodyWe searched PubMed, Cochrane Library, Google Scholar, Embase, Scopus, and Springer nature databases through June 4th 2023 for preferred studies related to our topic using MeSH and Regular keywords. After comprehensive search analysis, data extraction and quality appraisal 19 studies were included in the study. Although results varied across studies, majority of the studies revealed a positive link. Notably, some studies suggested an association between celiac disease and dilated cardiomyopathy, while others did not. These discrepancies could be attributed to differences in methodologies, study populations, and regional variations. Several studies have shown the association of various cardiac manifestations in celiac disease.ConclusionAlthough dilated cardiomyopathy is associated with celiac disease in majority of the studies, there are also studies that conflict with the association. The complex relationship between celiac disease and cardiovascular manifestations potentiates the need for further research with standardized methodologies, larger sample sizes, and consideration of regional variations. Such insights are vital for improving clinical practice by establishing preventive strategies, active screening, early diagnosis, mitigating risks which helps in optimizing cardiovascular health in individuals with celiac disease.
| S-EPMC11329460 | biostudies-literature
Project description:There is increasing understanding of the genetic basis to dilated cardiomyopathy and in this review, we offer a practical primer for the practising clinician. We aim to help all clinicians involved in the care of patients with dilated cardiomyopathy to understand the clinical relevance of the genetic basis of dilated cardiomyopathy, introduce key genetic concepts, explain which patients and families may benefit from genetic testing, which genetic tests are commonly performed, how to interpret genetic results, and the clinical applications of results. We conclude by reviewing areas for future research in this dynamic field.
| S-EPMC8216730 | biostudies-literature