Search results for "Cardiomyopathy"

showing 10 items of 242 documents

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

2014

Background LMNA/C mutations have been linked to the premature aging syndrome Hutchinson’s progeria, dilated cardiomyopathy 1A, skeletal myopathies (such as the autosomal dominant variant of Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy), Charcot-Marie-Tooth disorder type 2B1, mandibuloacral dysplasia, autosomal dominant partial lipodystrophy, and axonal neuropathy. Atrioventricular block (AVB) can be associated with several cardiac disorders and it can also be a highly heritable, primitive disease. One of the most common pathologies associated with AVB is dilated cardiomyopathy (DCM), which is characterized by cardiac dilatation and reduced systolic function. In this …

ProbandGeneticsExome sequencingAgingProgeriaLamin A/Cbusiness.industryResearchImmunologyDilated cardiomyopathymedicine.diseaseSudden deathLMNAMandibuloacral dysplasiaAgeingMedicineMissense mutationMuscular dystrophybusinessExome sequencingArrhythmiaAtrioventricular blockImmunityageing : IA
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Outcome after mitral valve operations with depressed left ventricular function.

2012

We retrospectively investigated 42 patients (27 men, 15 women; mean age, 67 years) with severe mitral valve incompetence and endstage cardiomyopathy (ejection fraction <30%) who were operated on between January 2002 and March 2009. Of these, 14 were in New York Heart Association class IV, and 27 were in class III. The etiology was ischemic in 18 patients and idiopathic dilated in 24. Mitral valve repair was performed in 25 patients, and 17 had mitral valve replacement. The mean logistic EuroSCORE was 33.41. The mean follow-up was 44.52 months. There were no perioperative deaths. Three patients died within 30 days postoperatively. Thirty-day mortality was lower than predicted by EuroSCOR…

Pulmonary and Respiratory MedicineAdultMaleReoperationmedicine.medical_specialtyTime Factorsmedicine.medical_treatmentCardiomyopathyKaplan-Meier EstimateRisk AssessmentSeverity of Illness IndexVentricular Function LeftVentricular Dysfunction LeftRisk FactorsInternal medicineMitral valveGermanymedicineHumansCardiac Surgical ProceduresSurvival rateAgedProportional Hazards ModelsRetrospective StudiesAged 80 and overHeart Valve Prosthesis ImplantationMitral valve repairEjection fractionbusiness.industryMitral valve replacementMitral Valve InsufficiencyEuroSCOREStroke VolumeGeneral MedicinePerioperativeMiddle Agedmedicine.diseaseSurgerymedicine.anatomical_structureLogistic ModelsTreatment OutcomeMultivariate AnalysisCardiologyMitral ValveSurgeryFemaleCardiology and Cardiovascular MedicinebusinessCardiomyopathiesAsian cardiovascularthoracic annals
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The mutual relationship between heart failure and atrial fibrillation

2020

Atrial fibrillation (AF) and heart failure (HF) are evolving epidemies, together responsible for substantial human suffering and health-care expenditure. The simultaneous co-hexistence of the two conditions is associated with mortality rates higher than those observed in individuals with only one or none of them. Patients with concomitant HF and AF suffer from even worse symptoms and poorer prognosis, yet evidence-based evaluation and management of this group of patients is lacking. In this review, we evaluate the common mechanisms for the development of AF in HF patients and vice versa, focusing on the evidence for potential treatment strategies. Recent data have suggested that these patie…

Pulmonary and Respiratory Medicinemedicine.medical_specialtyAdverse outcomesbusiness.industryMortality ratelcsh:Rheart failurelcsh:MedicineAtrial fibrillationArrhythmia-induced cardiomyopathymedicine.diseaseAtrial fibrillationHeart failure.Risk FactorsHeart failureConcomitantmedicineHumansTreatment strategyBest evidenceCardiology and Cardiovascular MedicineIntensive care medicinebusinessHealthcare system
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Device Therapy for Rate Control: Pacing, Resynchronisation and AV Node Ablation

2017

Atrioventricular node ablation (AVNA) is generally reserved for patients whose atrial fibrillation (AF) is refractory all other therapeutic options, since the recipients will often become pacemaker dependent. In such patients, this approach may prove particularly useful, especially if a tachycardia-induced cardiomyopathy is suspected. Historically, an "ablate and pace" approach has involved AVNA and right ventricular pacing, with or without an atrial lead. There is also an evolving role for atrioventricular node ablation in patients with AF who require cardiac resynchronisation therapy for treatment of systolic heart failure. A mortality benefit over pharmacotherapy has been demonstrated in…

Pulmonary and Respiratory Medicinemedicine.medical_specialtyCardiomyopathy030204 cardiovascular system & hematologyCardiac Resynchronization Therapy03 medical and health sciences0302 clinical medicinePharmacotherapyRefractoryHeart RateAtrioventricular node ablationInternal medicineAtrial FibrillationmedicineHumanscardiovascular diseases030212 general & internal medicinebusiness.industryCardiac Pacing ArtificialAtrial fibrillationmedicine.diseaseAtrial LeadHeart failureAtrioventricular NodeCatheter Ablationcardiovascular systemCardiologyObservational studyCardiology and Cardiovascular MedicinebusinessHeart, Lung and Circulation
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Reconnoitering the Role of Long-Noncoding RNAs in Hypertrophic Cardiomyopathy: A Descriptive Review

2021

Hypertrophic cardiomyopathy (HCM) is the most common form of hereditary cardiomyopathy. It is characterized by an unexplained non-dilated hypertrophy of the left ventricle with a conserved or elevated ejection fraction. It is a genetically heterogeneous disease largely caused by variants of genes encoding for cardiac sarcomere proteins, including MYH7, MYBPC3, ACTC1, TPM1, MYL2, MYL3, TNNI3, and TNNT23. Preclinical evidence indicates that the enhanced calcium sensitivity of the myofilaments plays a key role in the pathophysiology of HCM. Notably, this is not always a direct consequence of sarcomeric variations but may also result from secondary mutation-driven alterations. Long non-coding R…

QH301-705.5CardiomyopathyTPM1ReviewBiologyCatalysisInorganic ChemistrymedicineHumansBiology (General)Physical and Theoretical ChemistryQD1-999Molecular BiologySpectroscopyGeneticslong non-coding RNAgenetic variantsOrganic ChemistryACTC1Hypertrophic cardiomyopathyGeneral MedicineCardiomyopathy Hypertrophichypertrophic cardiomyopathymedicine.diseaseLong non-coding RNAcardiovascular diseasesComputer Science ApplicationsChemistryMYL3Cardiovascular diseases Genetic variants Hypertrophic cardiomyopathy Long non-coding RNA Cardiomyopathy Hypertrophic Humans RNA Long NoncodingMYL2RNA Long NoncodingMYH7International Journal of Molecular Sciences
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Association between Tpeak-Tend/QT and major adverse cardiovascular events in patients with Takotsubo syndrome

2020

Background:Conflicting results have been described in the scientific literature regarding the relationship between electrocardiographic parameters and complications in patients with Takotsubo syndrome (TTS). Aim of the present study was to investigate whether there is an association between markers of ventricular repolarization and major adverse cardiovascular events (MACE) during hospitalisation. Methods:A retrospective chart review was conducted on a sample of patients with diagnosis of TTS, based on the fulfilment of the revised Mayo Clinic criteria. MACE included acute heart failure, cardiogenic shock, sustained ventricular tachycardia, ventricular fibrillation, and death. The following…

QT intervalmedicine.medical_specialtyelectrocardiogram030204 cardiovascular system & hematologyQT intervalTpeak–Tend intervalElectrocardiography03 medical and health sciences0302 clinical medicineTakotsubo CardiomyopathyInternal medicineHumansMedicineRepolarizationIn patientcardiovascular diseases030212 general & internal medicineAssociation (psychology)TakotsuboRetrospective StudiesrepolarizationTakotsubo syndromebusiness.industrymajor cardiovascular eventsArrhythmias CardiacGeneral MedicineVentricular FibrillationCardiologyTpeak tendCardiology and Cardiovascular MedicinebusinessActa Cardiologica
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Left ventricular hypertrophy or storage disease? the incremental value of speckle tracking strain bull's-eye

2017

Left ventricular hypertrophy (LVH) develops in response to a variety of physical, genetic, and biochemical stimuli and represents the early stage of ventricular remodeling. In patients with LVH, subclinical left ventricular (LV) dysfunction despite normal ejection fraction (EF) may be present before the onset of symptoms, which portends a dismal prognosis. Strain measurement with two-dimensional speckle tracking echocardiography (STE) represents a highly reproducible and accurate alternative to LVEF determination. The present review focuses on current available evidence that supports the incremental value of STE in the diagnostic and prognostic workup of LVH. When assessing the components o…

Radiology Nuclear Medicine and ImagingSpeckle tracking echocardiographyDisease030204 cardiovascular system & hematologyLeft ventricular hypertrophytwo-dimensional strain0302 clinical medicineCardiomegaly Exercise-Induced030212 general & internal medicineanabolic steroidSubclinical infectionamyloidosiEvidence-Based MedicineEjection fractionHypertrophic cardiomyopathyleft ventricular hypertrophyEchocardiographyCardiologyElasticity Imaging TechniquesHypertrophy Left VentricularRadiologyCardiomyopathiesCardiology and Cardiovascular MedicineHumanendocrine systemmedicine.medical_specialtyarterial hypertensionReproducibility of ResultSensitivity and SpecificityDiagnosis Differential03 medical and health sciencesElasticity Imaging TechniqueInternal medicinemedicineathlete's heartHumanscardiovascular diseasesVentricular remodelingspeckle tracking echocardiographyCardiomyopathiebusiness.industryReproducibility of ResultsStroke Volumeaortic stenosiImage Enhancementmedicine.diseasehypertrophic cardiomyopathyDifferential diagnosisMetabolism Inborn ErrorbusinessMetabolism Inborn Errors
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Role of non-coding RNAs as biomarkers of deleterious cardiovascular effects in sepsis.

2021

The mechanisms occurring during sepsis that produce an increased risk of cardiovascular (CV) disease (CVD) are poorly understood. Even less information exists regarding CV dysfunction as a complication of sepsis, particularly for sepsis-induced cardiomyopathy. However, recent research has demonstrated that non-coding RNAs, including microRNAs, long non-coding RNAs, and circular RNAs, play a crucial role in genetic reprogramming, gene regulation, and inflammation during the development of CVD. Here we describe experimental findings showing the importance of non-coding RNAs mediating relevant mechanisms underlying CV dysfunction after sepsis, so contributing to sepsis-induced cardiomyopathy. …

Regulation of gene expressionbusiness.industryCardiomyopathyInflammationDiseaseRNA Circularmedicine.diseaseBioinformaticsRisk AssessmentSepsisMicroRNAsHeart Disease Risk FactorsSepsismicroRNAmedicineAnimalsHumansRNA Long NoncodingEpigeneticsmedicine.symptomCardiology and Cardiovascular MedicinebusinessCardiomyopathiesReprogrammingBiomarkersProgress in cardiovascular diseases
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Semiautomatic detection of myocardial contours in order to investigate normal values of the left ventricular trabeculated mass using MRI

2015

Purpose To propose, assess, and validate a semiautomatic method allowing rapid and reproducible measurement of trabeculated and compacted left ventricular (LV) masses from cardiac magnetic resonance imaging (MRI). Materials and Methods We developed a method to automatically detect noncompacted, endocardial, and epicardial contours. Papillary muscles were segmented using semiautomatic thresholding and were included in the compacted mass. Blood was removed from trabeculae using the same threshold tool. Trabeculated, compacted masses and ratio of noncompacted to compacted (NC:C) masses were computed. Preclinical validation was performed on four transgenic mice with hypertrabeculation of the LV…

ReproducibilityNoncompaction cardiomyopathymedicine.diagnostic_testbusiness.industryMean ageSteady-state free precession imagingNormal values030204 cardiovascular system & hematologymedicine.disease030218 nuclear medicine & medical imaging03 medical and health sciences0302 clinical medicineCine imagingAge groupsCardiac magnetic resonance imagingmedicineRadiology Nuclear Medicine and imagingbusinessNuclear medicineJournal of Magnetic Resonance Imaging
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Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area

2015

Abstract Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide. A great phenotypic variability among patients with late- and early-onset has been reported. Objective: To present a detailed report of TTR-FAP patients diagnosed in our tertiary neuromuscular center, in a 20-year period. Methods: Clinical informations were gathered through the database of our center. Results: The study involve…

Research ReportPediatricsmedicine.medical_specialtyPathologydysautonomiaCardiomyopathyLate onsetTTRtransthyretinmedicineFamilial amyloid polyneuropathy FAP transthyretin TTR amyloidosis cardiomyopathy dysautonomia epidemiology Italyamyloidosisbiologybusiness.industryAmyloidosisDysautonomiaAutosomal dominant traitFAPmedicine.diseaseTransthyretinPeripheral neuropathyNeurologyItalyFamilial amyloid polyneuropathybiology.proteinepidemiologyNeurology (clinical)medicine.symptombusinessPolyneuropathycardiomyopathyJournal of Neuromuscular Diseases
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