dilated myocardiopathy

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a common heritable myocardiopathy. Although HCM has been reported to be associated with many variants of genes involved in sarcomeric protein biomechanics, pathogenic genes have not been identified in patients with partial HCM. FARS2 (the mitochondrial phenylalanyl-tRNA synthetase), a type of mitochondrial aminoacyl-tRNA synthetase, plays a role in the mitochondrial translation machinery. Several variants of FARS2 have been suggested to cause neurological disorders; however, FARS2-associated diseases involving other organs have not been reported...

Cardiac involvement in sarcoidosis has been described in both symptomatic and asymptomatic patients. The aim of this report is to further the understanding of sarcoidosis and its clinical presentation. We report the autopsy and toxicology results of two cases of sudden death in young men. A 37-year-old male had generalized sarcoidosis, in mediastinal glands and intramyocardial sarcoid granulomas in the left ventricle, which had caused a 14mm thickening of the ventricular wall and a secondary dilated myocardiopathy causing sudden death...

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with rare type heart disease. METHODS: A pedigree identified at Shenzhen Maternity and Child Health Care Hospital Affiliated to Southern Medical University on July 9, 2021 was selected as the study subject. Clinical data were collected. Trio-whole exome sequencing (WES) was carried out for the proband and his parents. Candidate variants were validated by Sanger sequencing of his family members and bioinformatic analysis...

A 24-year-old man suffered a witnessed cardiac arrest after a padel game. Basic life support was immediately provided. The pre-hospital emergency services team continued the resuscitation efforts, and the patient was accepted for extracorporeal cardiopulmonary resuscitation. The return of spontaneous circulation was achieved in 45 minutes. The initial assessment revealed a ST-segment elevation in leads V4-V6 and a dilated left ventricle with severe systolic dysfunction. Coronary angiography was normal. An improvement in left ventricular systolic function was observed and extracorporeal cardiac support was discontinued after 48 hours...

We present the case of a 60-year-old woman, with a history of mitral valve prolapse, who consulted for dyspnea and palpitations of 2 weeks of evolution up to functional class IV. The admission electrocardiogram showed a moderately responsive atrial fibrillation rhythm with frequent ventricular extra systoles. A transthoracic echocardiogram was performed which showed mitral valve prolapse with severe impairment of ventricular function. Barlow syndrome was diagnosed. During hospitalization, the patient presented three episodes of cardiorespiratory arrest that were reversed with advanced cardiopulmonary resuscitation maneuvers...

Pathogenic AGO1 variants have been associated with neurodevelopmental disorders, including autism spectrum disorder, developmental delay, intellectual disability, and dysmorphic facial appearance. In mammalian models, defects in microRNA (miRNA) biogenesis are associated with congenital heart disease and dilated cardiomyopathy. We describe the case of a patient with partial anomalous pulmonary venous return, hypoplastic left lung, bilateral pulmonary sequestration, and dilated myocardiopathy. We identified a de novo pathogenic variant of AGO1, which encodes an Argonaute protein forming a gene-silencing complex with microRNAs...

This case reports describe a rare disease, mid-aortic syndrome (MAS), that can cause severe heart failure and hypertension in infancy. The typical images, key points of diagnosis, and therapy methods of the disease have also been presented. We report two critical thoracoabdominal aortic coarctation cases in infants aged 2 and 11 months with severe heart failure. The patients were initially misdiagnosed as dilated myocardiopathy, with the correct diagnosis confirmed through imaging. Both patients underwent balloon angioplasty; one patient also had bare-metal stents implanted...

A 30-year-old Turkish male was found lethargic and surrounded by vomit. At the hospital, severe hypernatremic dehydration and acute kidney failure were evident. His conscious level improved with fluid resuscitation. A differential diagnosis of altered mental status was considered. A complete clinical triad of Wernicke encephalopathy (WE), supported by MRI findings, was compatible with thiamine deficiency. Previous bariatric surgery was later confirmed. Despite no clinical signs of heart failure, a high level of NT-proBNP (N-terminal prohormone brain natriuretic peptide) and a dilated, hypokinetic myocardiopathy detected on the echocardiogram led us to assume beri-beri heart disease...

Background : Behcet's disease (BD) is a vasculitis with multisystem and multiorgan involvement. Cardiac involvement in BD is a rare complication with a poor outcome that manifests itself in different forms. In this study, we aimed to investigate cardiac involvement in BD. Methods : This is a retrospective study based on cardiac manifestations in BD according to the data of the Behçet's Disease Unit, the Rheumatology Research Center, Tehran University of Medical Sciences, from registered patients from 1975 until June 2017...

OBJECTIVES: High percentages of pacing were associated to maximal symptomatic and mortality benefit from cardiac resynchronization therapy (CRT). Loss of CRT pacing is linked to intrinsic ventricular activation preceding biventricular pacing (BiV), as it occurs in patients with atrial fibrillation (AF). Last generation CRT devices incorporate the ventricular sense response (VSR) mechanism to maintain biventricular pacing in patients with atrial arrhythmias. This work aimed to characterize electrical dyssynchrony differences among baseline, BiV and VSR pacing, and determine whether the VSR mode is as beneficial as the BiV mode in terms of electrical dyssynchrony...

Mitochondrial functional integrity depends on protein and lipid homeostasis in the mitochondrial membranes and disturbances in their accumulation can cause disease. AGK , a mitochondrial acylglycerol kinase, is not only involved in lipid signaling but is also a component of the TIM22 complex in the inner mitochondrial membrane, which mediates the import of a subset of membrane proteins. AGK mutations can alter both phospholipid metabolism and mitochondrial protein biogenesis, contributing to the pathogenesis of Sengers syndrome...

Anti-phospholipid antibodies (aPL) are the serological biomarkers of anti-phospholipid syndrome (APS), an autoimmune disorder characterized by vascular events and/or pregnancy morbidity. APS is a unique condition as thrombosis might occur in arterial, venous or capillary circulations. The heart provides a frequent target for circulating aPL, leading to a wide variety of clinical manifestations. The most common cardiac presentation in APS, valvular involvement, acknowledges a dual etiology comprising both microthrombotic and inflammatory mechanisms...

BACKGROUND: Uhl's anomaly is an extremely rare congenital heart defect characterized by absence of the right ventricle myocardium and preserved left ventricular myocardium. Although the disease has a poor prognosis and is generally fatal in the perinatal period, some patients may reach adulthood. METHODS: We describe a case of Uhl's anomaly complicated with heart failure and decompensated cardiac cirrhosis in a 42-year-old man treated by combined heart-liver transplant...

INTRODUCTION AND OBJECTIVES: Implantable cardioverter-defibrillators (ICD) are a cost-effective alternative for secondary prevention of sudden cardiac death, but their efficiency in primary prevention, especially among patients with nonischemic heart disease, is still uncertain. METHODS: We performed a cost-effectiveness analysis of ICD plus conventional medical treatment (CMT) vs CMT for primary prevention of cardiac arrhythmias from the perspective of the national health service...

Patients with symptomatic post-ischemic dilative myocardiopathy of the left ventricle require, in selected cases, an operation to reshape and reduce the volume of the left ventricular chamber, in addition to surgical myocardial revascularization and mitral valve repair, with the aim of prolonging survival, improving the quality of life and minimizing the need for re-hospitalizations related to recurrent heart failure. This procedure is called surgical ventricular restoration (SVR), and is a useful tool for the treatment of heart failure patients as an alternative to heart transplant...

Non-compacted myocardiopathy is rare, the prevalence ranging between 0.01-0.26%. in adults. We present the macroscopic, microscopic and electron microscopy findings of cardiac transplant samples from a 36-year-old patient diagnosed with non-compacted myocardiopathy. This condition shows a high genetic and phenotypic heterogeneity, with superposition of different phenotypes and variability in the hereditary patterns. Clinical diagnosis is established by coupling imaging results to clinical characteristics. The clinical manifestations of non-compacted myocardiopathy are variable, including arrhythmic events and variable degrees of cardiac failure, although some patients may be asymptomatic...

Infection with the coronavirus known as COVID-19 has promoted growing interest on the part of cardiologists, emergency care specialists, intensive care specialists, and researchers, due to the study of myocardial involvement based on different clinical forms resulting from immunoinflammatory and neurohumoral demodulation.Myocardial involvement may be minimal and identifiable only by electrocardiographic changes, mainly increased cardiac troponins, or, on the other side of the spectrum, by forms of fulminant myocarditis and takotsubo syndrome...

BACKGROUND: Cellular therapies have been increasingly applied to diverse human diseases. Intracoronary infusion of bone marrow-derived mononuclear cells (BMMNC) has demonstrated to improve ventricular function after acute myocardial infarction. However, less information is available about the role of BMMNC therapy for the treatment of dilated myocardiopathies (DCs) of non-ischemic origin. This article presents the methodological description of a study aimed at investigating the efficacy of intracoronary injection of autologous BMMNCs in the improvement of the ventricular function of patients with DC...

Peripheral veno-arterial extra corporeal life support (V-A ECLS) is an effective tool in treating refractory cardiogenic shock (RCS). Despite additional use of intra-aortic balloon pump, insufficient left ventricular unloading is a likely complication. We present herein our experience combining V-A ECLS and Impella to treat symptomatic, critical patients. A retrospective single-center review analyzed patients with V-A ECLS and intra-aortic balloon pump for RCS and subsequently benefiting from Impella implantation, between 2011 and 2015...

RATIONALE: Anthracyclines cardiotoxicity characterized by dilated myocardiopathy has been well described in the literature. However, anthracyclines-induced valvular diseases have been seldom reported. PATIENT CONCERNS: In this study, we present the case of a 62-year-old Chinese female patient with breast cancer developing severe mitral regurgitation after anthracycline exposure. DIAGNOSES: The patient was diagnosed with mitral regurgitation with preserved left ventricular ejection fraction and normal cardiac chamber dimensions in the sixth month after the last course of anthracycline-containing chemotherapy...