0000000000147919

AUTHOR

Valeria Donghi

showing 2 related works from this author

Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic…

2021

International audience; Background: Few data exist concerning genotype-phenotype relationships in left ventricular noncompaction (LVNC).Methods and results: From a multicenter French Registry, we report the genetic and clinical spectrum of 95 patients with LVNC, and their genotype-phenotype relationship. Among the 95 LVNC, 45 had at least 1 mutation, including 14 cases of mutation in ion channel genes. In a complementary analysis including 16 additional patients with ion channel gene mutations, for a total of 30 patients with ion channel gene mutation, we found that those patients had higher median LV ejection fraction (60% vs 40%; P < .001) and more biventricular noncompaction (53.1% vs 18…

Bradycardiamedicine.medical_specialtyLeft ventricular noncompactionphenotypegenotypeGenetic counselingregistry030204 cardiovascular system & hematologyGene mutationmedicine.disease_cause03 medical and health sciences0302 clinical medicine[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseasesInternal medicineGenotypemedicineechocardiography[SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology030212 general & internal medicineComputingMilieux_MISCELLANEOUSMutation[SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseasesEjection fractionbusiness.industryPhenotype[SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology3. Good health[SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/VirologyCardiologyLeft ventricular noncompactionmedicine.symptomCardiology and Cardiovascular Medicinebusiness
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Multimodality imaging approach to paradoxical embolism: a cauliflower mass on the Eustachian valve

2020

The Eustachian valve was first described by Bartolomeo Eustachio (Italian anatomist) at 1552. It is an embryological remnant of the inferior vena cava valve that prenatally directs the oxygenated blood from inferior vena cava across the patent foramen ovale (PFO) into systemic circulation. Generally, following birth, after the closure of the foramen ovale it gradually regresses and not have a specific function, but it may persist in some patients as a floating membrane in the right atrium (RA), a nonpathological functionless structure.1 The prevalence of Eustachian valve in the normal population is unknown. Generally, it is an incidental finding without any significant pathophysiological co…

medicine.medical_specialtyParadoxical embolismbusiness.industrymedicineGeneral MedicineRadiologyCardiology and Cardiovascular Medicinemedicine.diseasebusinessMultimodality imaging approach paradoxical embolism Eustachian valve.Eustachian Valve
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