Search results for "MYOPATHY"

Cardiac magnetic resonance in the assessment of hypertrophic cardiomyopathy phenotypes and stages : pictorial review

2021

The aim of this paper is to present recent advances in hypertrophic cardiomyopathy (HCM) diagnosis and treatment based on a literature review. Special emphasis has been placed on the role of cardiac magnetic resonance imaging (CMR) for the assessment of morphological and functional consequences of different stages of HCM including prognostication. The text is illustrated with the images and data of the HCM patients diagnosed with CMR study in our hospital. CMR is an important tool, particularly relevant in novel risk factors and LV dysfunction groups. The HCM group with overt left ventricular dysfunction is underrecognized, often labelled by clinicians as dilated cardiomyopathy. Advanced di…

Il rilascio della certificazione di idoneità agonistica: la valutazione cardiologica con ecg a riposo e dopo sforzo

2009

Downregulation of myogenic microRNAs in sub-chronic but not in sub-acute model of daunorubicin-induced cardiomyopathy

2016

Cardiac muscle-related microRNAs play important roles in cardiac development and disease by translational silencing of mRNAs, the dominant mechanism of microRNA action. To test whether they could be involved in daunorubicin-associated cardiomyopathy (DACM), we determined expression patterns of myomiRs in two distinct models of DACM. We used 10–12 weeks old male Wistar rats. In the sub-acute model, rats were administered with six doses of daunorubicin (DAU-A, 3 mg/kg, i.p., every 48 h). Rats were sacrificed two days after the last dose. In the sub-chronic model, anaesthetized rats were administered a single dose of daunorubicin (15 mg/kg, i.v., DAU-C). Age-matched controls (CON) receive…

Liver and Statins: A Critical Appraisal of the Evidence.

2019

Adverse drug reactions (ADRs) represent an important cause of morbidity and mortality worldwide. Statins are a class of drugs whose main adverse effects are drug-induced liver injury (DILI) and myopathy. Some of these may be predictable, due to their pharmacokinetic and pharmacodynamic properties, while others, unfortunately, are idiosyncratic. Genetic factors may also influence patient susceptibility to DILI and myopathy in the case of statins. This review will first discuss the role of statins in cardiovascular disease treatment and prevention and the underlying mechanisms of action. Furthermore, to explore the susceptibility of statin-induced adverse events such as myopathy and hepatoto…

The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review

2023

Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. We describe a novel homoplasmic m.7484A>G mutation in the tRNASer(UCN) gene affecting the third base of the anticodon triplet in a girl with profound intellectual disability, spastic tetraplegia, sensorineural hearing loss, a clinical history of epilepsia partialis continua and vomiting, typical of MELAS syndrome, leading to a myoclonic epilepticus status, and myopathy with severe COX deficiency at muscle biopsy. The mutation was also …

TAKOTSUBO CARDIOMYOPATHY

2010

Feasibility of Implantable Cardioverter Defibrillator Treatment in Five Patients With Familial Friedreich's Ataxia-A Case Series

2010

Friedreich's ataxia (FRA) is an autosomal recessive disease of the central nervous system that is associated with familial cardiomyopathy. Cardiac involvement is seen in more than 90% of the patients and is the most common cause of death in these patients. We present a case series and discuss the indications for implantable cardioverter defibrillator (ICD) implantation in FRA with review of the literature. Five pediatric patients who suffer from FRA (four female and one male, mean age 17.4 years) underwent ICD implantation between 2007 and 2008 in the University Hospital of Goettingen. The diagnosis of FRA was established by standard clinical criteria and proven in each case by genotyping a…

Reply to letter by Parodi et al. regarding article: Revised clinical diagnostic criteria for Takotsubo syndrome: The Takotsubo Italian Network propos…

2014

Cytokine Polymorphism in Takotsubo Cardiomyopathy

2014

IMIN11. Cytokine Polymorphism in Takotsubo Cardiomyopathy P. Di Gangi1, L. Scola1, S. Giambanco1, M. Bova1, G. Santini1, L. Vaccarino1, C. R. Balistreri1, D. Lio1, P. Assennato1, S. Novo1, G. Novo1 1University of Palermo, Palermo, Italy Background: Takotsubo (TT) cardiomyopathy is characterised by an acute left ventricular dysfunction triggered by emotional or physical stresses. Clinically, the syndrome is characterised by acute symptoms mimicking acute infarction without relevant electrocardiographic and biochemical markers of myocardial damage changes. Stressful events inducing an excess catecholamine release and myocardial β-adrenergic receptors (β-AR) seem to play a major role in TT. Ac…

Takotsubo cardiomyopathy after a positive emotional stress

2013

Takotsubo cardiomyopathy, also known as transient left ventricular apical ballooning syndrome, is a cardiac syndrome mimicking an acute coronary syndrome and characterized by peculiar transient left ventricular wall motion in the absence of significant coronary lesions at coronary angiography. The pathogenic mechanisms linking emotional stress to Takotsubo cardiomyopathy still remain undefined. The onset of Takotsubo cardiomyopathy can be triggered by an acute, intense emotional stress. This is the first report reporting that not only negative stress but also positive stressful event may precede the syndrome.