0000000000347274

AUTHOR

Diana Domingo

showing 7 related works from this author

Mechanism of Sinoatrial Node Dysfunction in a RyR 2 R420Q Mouse Model Ofcatecholaminergic Polymorphic Ventricular Tachycardia

2017

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disease characterized by stress-induced syncope and/or sudden death in young individuals with structurally normal heart. More than 150 mutations located in the cardiac Ca2+ release channel (type-2 ryanodine receptor, RyR2) gene are related to CPVT. Besides ventricular tachycardia (VT) under stress, sinoatrial node (SAN) dysfunction is frequently observed in CPVT patients. However, the cellular mechanisms remain underexplored. We created a KI mice model bearing a mutation in the N-terminal portion of the RyR2 found in a CPVT family, RyR2(R420Q). ECGs were recorded in KI and WT littermates in resting condition and after…

Supraventricular arrhythmiamedicine.medical_specialtyRyanodine receptorChemistrySinoatrial nodeBiophysicsDiastoleCatecholaminergic polymorphic ventricular tachycardiamedicine.diseaseVentricular tachycardiaRyanodine receptor 2Sudden deathmedicine.anatomical_structureEndocrinologyInternal medicinecardiovascular systemmedicineBiophysical Journal
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The genetic background of left ventricular hypertrabeculation/noncompaction remains vague. Response.

2015

medicine.medical_specialtybusiness.industryInternal medicineCardiologyMEDLINEMedicineHumansGeneral MedicineLeft ventricular hypertrabeculationbusinessGenetic BackgroundRevista espanola de cardiologia (English ed.)
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Sensitivity and negative predictive value of treadmill exercise stress testing for the diagnosis of catecholaminergic polymorphic ventricular tachyca…

2015

TachycardiaMalemedicine.medical_specialtyStress testingTreadmill exerciseCatecholaminergic polymorphic ventricular tachycardiaVentricular Function LeftElectrocardiographyDna geneticsInternal medicineMedicineHumansmedicine.diagnostic_testVentricular functionbusiness.industryRyanodine Receptor Calcium Release ChannelGeneral MedicineDNAmedicine.diseasePredictive valueMutationCardiologyTachycardia VentricularFemalemedicine.symptombusinessElectrocardiographyRevista espanola de cardiologia (English ed.)
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Left ventricular Myocardial dysfunction in arrhythmogenic cardiomyopathy with left ventricular involvement: A door to improving diagnosis.

2018

[EN] Background: Diagnostic Task Force Criteria (TFC) for arrhythmogenic cardiomyopathy (AC) exhibit poor performance for left dominant forms. TFC only include right ventricular (RV) dysfunction (akinesia, dyssynchrony, volumes and ejection fraction). Moreover, cardiac magnetic resonance imaging (CMRI) assessment of left ventricular (LV) dyssynchrony has hitherto not been described. Thus, we aimed to comprehensively characterize LVCMRI behavior in AC patients. Methods: Thirty-five AC patients with LV involvement and twenty-three non-affected family members (controls) were enrolled. Feature-tracking analysis was applied to cine CMRI to assess LV ejection fraction (LVEF), LV end-systolic and …

AdultMalemedicine.medical_specialtyHeart VentriclesCardiomyopathyMagnetic Resonance Imaging Cine030204 cardiovascular system & hematologyVentricular Function LeftStrainTECNOLOGIA ELECTRONICA03 medical and health sciencesVentricular Dysfunction Left0302 clinical medicineCardiac magnetic resonance imagingDiastoleInternal medicinemedicineLate gadolinium enhancementHumansCor030212 general & internal medicineLeft ventricular involvementVentricular dysfunctionCardiac magnetic resonance imagingArrhythmogenic Right Ventricular DysplasiaEjection fractionmedicine.diagnostic_testTask forcebusiness.industryLeft ventricular arrhythmogenic cardiomyopathyReproducibility of ResultsStroke VolumeMiddle Agedmedicine.diseasePatologiaDyssynchronyLv dyssynchronyCardiologyFemaleCardiology and Cardiovascular MedicineLEFT DOMINANTbusiness
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Familial Left Ventricular Noncompaction Associated With a Novel Mutation in the Alpha-cardiac Actin Gene

2014

Pathologymedicine.medical_specialtybusiness.industrymedicineLeft ventricular noncompactionGeneral MedicinebusinessGeneNovel mutationAlpha-Cardiac ActinRevista Española de Cardiología (English Edition)
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Miocardiopatía no compactada familiar asociada con una mutación nueva en el gen de la alfa-actina cardiaca

2014

business.industryMedicineCardiology and Cardiovascular MedicinebusinessHumanitiesRevista Española de Cardiología
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A New Mutation in the Ryanodine Receptor 2 Gene (RYR2 C2277R) as a Cause Catecholaminergic Polymorphic Ventricular Tachycardia

2015

GeneticsTachycardiabusiness.industryGeneral MedicineCatecholaminergic polymorphic ventricular tachycardiamedicine.diseaseRyanodine receptor 2Dna geneticsDNA Mutational AnalysisMutation (genetic algorithm)New mutationMedicinemedicine.symptombusinessGeneRevista Española de Cardiología (English Edition)
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