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Life Threatening Broad QRS Tachycardia in an Infant with Conduction disorder and SCN5A Mutation

Congenital Heart disease 2022年第5期17卷 550-555页

作者： Elio Caruso Silvia Farruggio alfredo di pino Paolo Guccione Mohammadrafie Khorgami Department of Pediatric Cardiology and Cardiac Surgery Bambino GesùChildren’s Hospital Centro Cardiologico Pediatrico del MediterraneoSan Vincenzo HospitalTaorminaItaly Cardiovascular Surgery Department Rajaie Cardiovascular Medical and Research CenterIran University of Medical SciencesTehranIran

We present the case of an infant admitted to our department for a rapid broad complex tachycardia and cardiovascular *** patient was submitted to genetic testing because of a conduction defect at baseline ECG and family history of gene mutation.A new SCN5A gene mutation variant was found leading to diagnosis of sodium-channel dysfunction arrhythmia.

关键词： Brugada child broad QRS arrhythmias SCN5A mutation

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Classifying Cardiac Anomalies in Right and Left Isomerism:Concordant and discordant Patterns

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Congenital Heart disease 2023年第1期18卷 97-111页

作者： Lilia Oreto Giuseppe Mandraffino Paolo Ciliberti Teresa P.Santangelo Placido Romeo Antonio Celona Placido Gitto Lorenzo Galletti Fiore S.Iorio alfredo di pino Aurelio Secinaro Paolo Guccione Robert H.Anderson Salvatore Agati Mediterranean Pediatric Cardiology Center Bambino GesùChildren’s HospitalVia SirinaTaorminaItaly Internal Medicine Unit Department of Clinical and Experimental MedicineUniversity of MessinaMessinaItaly Department of Pediatric Cardiology and Cardiac Surgery Bambino GesùChildren’s HospitalRomaItaly Advanced Cardiovascular Imaging Unit Department of ImagingBambino GesùChildren’s HospitalRomaItaly Radiology Department S.Vincenzo HospitalTaorminaItaly Biosciences Institute Newcastle UniversityNewcastle upon TyneUK

Aims:Evidence is emerging that,in the setting of isomerism,the atrial and bronchial arrangement are not always concordant,nor are these patterns always harmonious with the arrangement of the abdominal *** aimed to evaluate the concordance between these features in a cohort of patients with cardiac malformations in the setting of known isomerism,seeking to determine whether it was feasible to assess complexity on this basis,in this regard taking note of the potential value of bronchial as opposed to appendage *** and Results:We studied 78 patients known to have isomerism of the bronchuses,43 with right and 35 with left *** anatomy could be determined in 49 cases(63%),all but one of these being concordant with bronchial *** assessing abdominal features,in only 59 cases(76%)was splenic morphology in keeping with the thoracic *** expected,right isomerism was associated with greater complexity of cardiac malformations,with an odds ratio of 6.53,with confidence intervals from 2.2–19.3(pdisharmony,when lesions shown to carry higher risk were then found in the setting of left ***:Harmony is excellent between bronchial and appendage isomerism,but less so with the arrangement of the abdominal *** isomerism in our cohort,was indicative of a sixfold increase in intracardiac *** discordance was found between the systems,however,the cardiac anomalies were less typical of the anticipated findings for right *** isomerism of the appendages.

关键词： Isomerism asplenia polysplenia congenital heart disease bronchial isomerism atrial appendages

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