Scientific advances in genomics are transforming healthcare and prevention. However, they also increase situations of uncertainty, which in turn increase vulnerability not only for patients and their families but also for professionals. Cardiogenetics plays a crucial role in preventing sudden death in young individuals, but it can pose complex challenges for healthcare teams.
View Article and Find Full Text PDFBackground: Rare genetic variants in TNNI3K encoding troponin-I interacting kinase have been linked to a distinct syndrome consisting primarily of supraventricular tachycardias and variably expressed conduction disturbance and dilated cardiomyopathy in 2 families.
Objective: The purpose of this study was to identify new genetic variants associated with inherited supraventricular tachycardias, cardiac conduction disease, and cardiomyopathy.
Methods: We conducted next generation sequencing in 3 independent multigenerational families with atrial/junctional tachycardia with or without conduction disturbance, dilated cardiomyopathy, and sudden death.
Background: Brugada syndrome (BrS) is an arrhythmogenic disease associated with sudden cardiac death (SCD) that seldom manifests or is recognized in childhood.
Objectives: The objectives of this study were to describe the clinical presentation of pediatric BrS to identify prognostic factors for risk stratification and to propose a data-based approach management.
Methods: We studied 106 patients younger than 19 years at diagnosis of BrS enrolled from 16 European hospitals.
Aims: In low-flow, low-gradient aortic stenosis (LF/LG AS), the assessment of contractile reserve (CR) by dobutamine stress echocardiography (DSE) is recommended for risk stratification and treatment strategy. However, DSE may show limitations in cases of left ventricular dyssynchrony (LVD). The impact of LVD in LF/LG AS, and the feasibility of CRT in this setting have never been evaluated.
View Article and Find Full Text PDFAims: Our group has recently shown that in some patients, heart failure with preserved ejection fraction (HFPEF) may be explained by 'atrial dyssynchrony syndrome' (ADS) due to interatrial conduction delay (IACD), a short left atrioventricular interval (LAVI), and increased left atrial (LA) stiffness. Our primary objective was to evaluate LA pacing therapy as a new treatment to restore left ventricular active filling in patients with no other known causes for HF than ADS.
Methods And Results: Six patients with severe HFPEF with IACD (P wave duration >120 ms in lead II), short LAVI during electrophysiological studies (<70 ms), a restrictive filling pattern (E/e' >15), and no standard indication for a pacemaker were implanted with a lead screwed inside the coronary sinus for active LA pacing.
Objectives: The aim of this study was to describe a new familial cardiac phenotype and to elucidate the electrophysiological mechanism responsible for the disease.
Background: Mutations in several genes encoding ion channels, especially SCN5A, have emerged as the basis for a variety of inherited cardiac arrhythmias.
Methods: Three unrelated families comprising 21 individuals affected by multifocal ectopic Purkinje-related premature contractions (MEPPC) characterized by narrow junctional and rare sinus beats competing with numerous premature ventricular contractions with right and/or left bundle branch block patterns were identified.
Aims: The purpose of the present study was too explore the role of interatrial dyssynchrony in heart failure with preserved ejection fraction (HFPEF).
Methods And Results: For the case study we selected seven patients with severe HFPEF, with interatrial block on electrocardiogram (ECG), and a delayed and interrupted A wave on mitral Doppler. Echocardiographic left atrial (LA) volumes/functions, mitral E/A and E/e' ratios, mitral A wave duration/deceleration time, and interatrial mechanical delays (IAMDs) at tissue Doppler, were studied.
We report the case of a 41-year-old man with a diagnosis of sporadic arrhythmogenic right ventricular cardiomyopathy (ARVC). Genetic screening identified the heterozygous missense mutation R49H in the desmoglein-2 gene. The mutation was absent in both parents, and we demonstrated that it was a de novo mutation.
View Article and Find Full Text PDFBackground: We recently demonstrated that patients with platypnea-orthodeoxia syndrome and an enlarged aortic root had a smaller and hypermobile atrial septum (AS) compared with those with a normal aortic root. However, this was a partly retrospective study.
Methods: In all, 72 patients underwent transesophageal echocardiography and cardiac catheterization.
Background: In patients with common atrial flutter (CAF), radiofrequency ablation (RFA) causes discomfort. Patients undergoing RFA often feel pain which is difficult to control as the mechanisms are unclear.
Hypothesis: Inhaled nitrous oxide (N2O) is a potent sedative-analgesic-anxiolytic agent that may relieve anxiety and discomfort during CAF ablation.
Aims: Cavo-tricuspid isthmus (CTI) radiofrequency (RF) ablation is a curative therapy for common atrial flutter (AFl), but is associated with a recurrence rate of 5-26%. Although complete bidirectional conduction block is usually achieved, the recurrence of AF is due to recovered conducting isthmus tissue through which activation wavefronts pass. We evaluated a simple and efficient electrophysiological strategy, which pinpoints the ablation target.
View Article and Find Full Text PDFBackground: A complete line of block (CLOB) in the cavotricuspid isthmus (CTI) is the endpoint of typical atrial flutter ablation. Before CTI block is obtained, a progressive CTI conduction delay due to an incomplete line of block (InLOB) can be difficult to distinguish from CLOB. The purpose of this study was to assess a new simple approach based on the changes in atrio-ventricular (AV) conduction delays during septal and lateral right atrial pacing, to distinguish a CLOB from an InLOB during typical atrial flutter (AFL) ablation.
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