Barth syndrome cardiomyopathy

AbstractBarth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the biosynthesis of the unique phospholipid cardiolipin (CL), which is almost exclusively found in mitochondrial membranes. CL directly interacts with a number of essential protein complexes in the mitochondrial membranes including the respiratory chain, mitochondrial metabolite carriers, and proteins, involved in shaping mitochondrial morphology. Here we describe, how in BTHS CL deficiency causes changes in the morphology of mitochondria, structural changes in the respiratory chain, decreased respiration, and increased generation of reactive oxygen species. A large number of cellular and animal models for BTHS have been established to elucidate how mitochondrial dysfunction induces sarcomere disorganization and reduced contractility, resulting in dilated cardiomyopathy in vivo.
Source: Cardiovascular Research - Category: Cardiology Source Type: research

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Abstract A variant in the PRDM16 locus has been correlated with QRS duration in an electrocardiogram genomewide association study, and the deletion of PRDM16 has been implicated as a causal factor of the dilated cardiomyopathy that is linked to 1p36 deletion syndrome. We aimed to determine how a null mutation of Prdm16 affects cardiac function and study the underlying mechanism of the resulting phenotype in an appropriate mouse model. We used cardiac-specific Prdm16 conditional knockout mice to examine cardiac function by electrocardiography. QRS duration and QTc interval increased significantly in cardiac-specifi...
Source: American Journal of Physiology. Heart and Circulatory Physiology - Category: Physiology Authors: Tags: Am J Physiol Heart Circ Physiol Source Type: research
Conclusions: Our study showed that NLVS defines a group of systolic HF patients which not only did not have less severe disease than those with enlarged left ventricules (i.e., DCM), also had more HF rehospitalization. These NLVS patients also had steady clinical, laboratory, and echocardiographic profile during follow-up.
Source: Critical Pathways in Cardiology - Category: Cardiology Tags: Original Articles Source Type: research
This study enrolled an institutional consecutive surgical series of 24 patients with refractory congestive heart failure under peripheral ECLS, related to fulminant myocarditis (n = 15), dilated cardiomyopathy (n = 5), or acute myocardial infarction (n = 4). They were converted to central Y-extracorporeal membrane oxygenation (ECMO,n = 6), extracorporeal ventricular assist device (EC-VAD,n = 12), or pump catheter (n = 6), dependent upon the degree of multiorgan failure. Despite the different degree of multiorgan failure prior to the convers...
Source: Journal of Artificial Organs - Category: Transplant Surgery Source Type: research
g;berg M Abstract BACKGROUND: Incidence rates of cardiomyopathies, which are a common cause of heart failure in young people, have increased during the last decades. An association between body weight in adolescence and future cardiomyopathy among men was recently identified. Whether or not this holds true also for women is unknown. The aim was therefore to determine whether for young women being overweight or obese is associated with a higher risk of developing cardiomyopathy. METHODS: This was a registry-based national prospective cohort study with data collected from the Swedish Medical Birth Register, 198...
Source: Circulation - Category: Cardiology Authors: Tags: Circulation Source Type: research
ConclusionsSubstantial recovery of LV function occurs within 12  months in most patients with recent‐onset DCM. Women had the greatest improvement in LVEF. A low LV contractile reserve measured by dobutamine stress CMR appears to identify patients whose LVEF is less likely to recover.
Source: European Journal of Heart Failure - Category: Cardiology Authors: Tags: Research Article Source Type: research
CONCLUSION: Real-time tracking and beam-gating were successfully applied in this first MRgRA to treat sustained VT. PMID: 32067819 [PubMed - as supplied by publisher]
Source: Radiotherapy and Oncology : journal of the European Society for Therapeutic Radiology and Oncology - Category: Radiology Authors: Tags: Radiother Oncol Source Type: research
Ventricular tachycardia (VT) is a potentially life-threatening heart rhythm disorder based on a reentry circuit within a ventricular substrate which may degenerate into ventricular fibrillation and cardiac arrest. Substrate-related VT can occur due to coronary artery disease or other structural cardiomyopathies, including non-ischemic dilated cardiomyopathy (DCM) [1]. The first-line and only life-saving treatment of hemodynamically unstable VTs without a reversible cause according to current guidelines is the implantation of a implantable cardioverter-defibrillator (ICD) [2].
Source: Radiotherapy and Oncology - Category: Radiology Authors: Tags: First in Human Source Type: research
Myocarditis is an inflammation of the heart muscle and an important cause of dilated cardiomyopathy. Its presentation is heterogeneous, and there are limited studies describing the clinical characteristics of these patients, or which factors predict adverse clinical outcomes. We performed a single-centre retrospective study to explore the clinical characteristics of patients with myocarditis.
Source: Heart, Lung and Circulation - Category: Cardiology Authors: Tags: Original Article Source Type: research
AbstractDilated cardiomyopathy (DCM) represents one of the primary cardiomyopathies and may lead to heart failure and sudden death. Until recently, ventricular arrhythmias were considered to be a direct consequence of the systolic dysfunction of the left ventricle (LV) and guidelines for implantable cardioverter defibrillator implantation were established on this basis. However, the identification of heritable dilated cardiomyopathy phenotypes that presented with mildly impaired or moderate LV dysfunction, with or without chamber dilatation, and ventricular arrhythmias exceeding the degree of the underlying morphological a...
Source: Heart Failure Reviews - Category: Cardiology Source Type: research
Authors: Ro WB, Kang MH, Park HM Abstract A 6-year-old 37.5-kg Golden Retriever dog was presented with intermittent coughing and cardiac murmur. The dog was diagnosed with subaortic stenosis (SAS) and dilated cardiomyopathy (DCM). The serum N-terminal pro B-type natriuretic peptide (NT-proBNP) concentration, conventional echocardiography, and two-dimensional speckle tracking echocardiography (2D-STE) were serially evaluated for 6 months. At admission, the dog showed a significant increase in the serum NT-proBNP concentration and severe reduction in the 2D-STE strain values. During the monitoring period, the 2D-STE ...
Source: Veterinary Quarterly - Category: Veterinary Research Tags: Vet Q Source Type: research
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