Search results for "MYOPATHY"
showing 10 items of 352 documents
Exercise training intensity and connexin 43 expression in hypertrophic cardiomyopathy.
2017
• Moderate-intensity exercise improved peak oxygen consumption in hypertrophic cardiomyopathy.
2018
AbstractBackground: Alcoholic cardiomyopathy (ACM) is defined by a dilated and impaired left ventricle due to chronic excess alcohol consumption. It is largely unknown which factors determine cardi...
Congenital myopathy and epidermolysis bullosa due to PLEC variant
2021
Abstract We report on an adult Turkish patient with mild myopathy with a fiber-type disproportion and mitochondrial disorganization caused by genetic variants in the plectin gene (PLEC). Molecular genetic panel testing revealed two homozygous variants in PLEC (NM_000445.4): c.8306C>G (p.Pro2769Arg) and c.7506 + 5C>G (p. ?) that were classified as variants of unknown significance (class 3) following ACMG guidelines for variant classification in genetic diagnostics. A thorough reassessment of the patient revealed mild skin blistering (epidermolysis bullosa simplex, EBS). This illustrates the importance of deep phenotyping of neuromuscular patients.
The Heart in Fabry Disease – from Pathogenesis to Enzyme Replacement Therapy
2010
The cardiovascular involvement in Fabry disease is progressive, and accounts for one of the major reasons for abbreviated life expectancy and increased morbidity. The majority of patients develop signs and symptoms, related to heart failure and arrhythmias. Hypertrophic cardiomyopathy, in later stages combined with myocardial fibrosis, is one of the leading features. Both genders are affected, and females develop severe cardiac Fabry disease approximately 10–15 years later in life than male patients. Diastolic dysfunction and reduced longitudinal mid-wall related systolic function are the mechanical consequences of the myocardial and epithelial changes related to accumulation of the storage…
G.P.5.10 Novel FHL1 mutation in familial mixed reducing body myopathy with rigid spine
2009
Use of wearable cardioverter‐defibrillator in association with catheter ablation for atrial fibrillation‐related tachycardiomyopathy
2019
Implantable cardioverter‐defibrillator (ICD) implantation is not indicated in patients with potentially transient or reversible causes of sudden cardiac death (SCD). Wearable cardioverter‐defibrillator (WCD) is increasingly used for SCD prevention in patients who are temporary at high risk of ventricular arrhythmia. Hereby, we describe a case of tachycardiomyopathy successfully managed with ablation and WCD backup. Implantable cardioverter‐defibrillators are a Class I indication by American College of Cardiology/American Heart Association/Heart Rhythm Society guidelines to prevent SCD in patients with nonischemic dilated cardiomyopathy, New York Heart Association (NYHA) functional class II …
Survival with Cardiac-Resynchronization Therapy in Mild Heart Failure
2014
BACKGROUND The Multicenter Automatic Defibrillator Implantation Trial with Cardiac Resynchronization Therapy (MADIT-CRT) showed that early intervention with cardiac-resynchronization therapy with a defibrillator (CRT-D) in patients with an electrocardiographic pattern showing left bundle-branch block was associated with a significant reduction in heart-failure events over a median follow-up of 2.4 years, as compared with defibrillator therapy alone. METHODS We evaluated the effect of CRT-D on long-term survival in the MADIT-CRT population. Post-trial follow-up over a median period of 5.6 years was assessed among all 1691 surviving patients (phase 1) and subsequently among 854 patients who w…
Modelling cardiac mechanics of left ventricular noncompaction
2020
Left ventricular noncompaction (LVNC) can be defined as a cardiomyopathy characterised by a pattern of prominent trabecular structure and deep intertrabecular recesses, that is thought to be caused by an arrest of normal endomyocardial morphogenesis. Using patient-specific computational modelling, we assessed the cardiac mechanics of five patients with LVNC and compared myocardial stress and pump performance to those of healthy controls. Findings shown that patients with LVNC have impaired left ventricular (LV) function, making it possible that the lack of fibre shortening of noncompacted layer can determine poor heart function. Pronounced end-systolic wall stress on left ventricular wall o…
Cardiovascular outcomes after cardiac resynchronization therapy in cardiac amyloidosis
2021
Abstract Aims Cardiac resynchronization therapy (CRT) is highly effective in dilated cardiomyopathy (DCM) patients with impaired left ventricular ejection fraction (LVEF) and left bundle block branch. In cardiac amyloidosis (CA) patients, left ventricular dysfunction and conduction defects are common, but the potential of CRT to improve cardiac remodelling and survival in this particular setting remains undefined. We investigated cardiovascular outcomes in CA patients after CRT implantation in terms of CRT echocardiographic response and major cardiovascular events (MACEs). Methods and results Our retrospective study included 47 CA patients implanted with CRT devices from January 2012 to Feb…
Personality and Defence Mechanisms in Takotsubo Cardiomyopathy
2017
IntroductionTakotsubo cardiomyopathy (TC) is an acute cardiologic syndrome, characterized by specific symptoms and ECG, echocardiographic and enzymatic abnormalities, similar to an acute myocardial infarction, with no hemodynamically significant stenosis at coronary-ventriculography.ObjectiveTo assess personality in TC patients in order to find common psychopathological elements.MethodsA series of consecutive patients suffering from TC hospitalized at the Cardiology Unit of “Ingrassia” Hospital in Palermo in 2013–2014, were included in the study. We used Structured Clinical Interview for Axis I and II, according to DSM-IV TR criteria. Further, the Defense Mechanisms Inventory (DMI), used in…