Pia Dahlberg

Risk Stratification of Patients With Type 2 Long‐QT Syndrome Through Analysis of T‐Wave Morphology

Neurys Gómez, Julia Ramírez, Aleksei A. Savelev, Pia Dahlberg et autres

Background Risk stratification in type 2 long‐QT syndrome remains challenging, as QT duration may not fully reflect all underlying arrhythmic vulnerability. We assessed whether an index derived from the T‐wave morphology is associated with cardiac events in a cohort with type 2 …

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CE-534536-003 GENE-SPECIFIC DEFINITIONS OF PHENOTYPE-NEGATIVE TYPE 1 AND 2 LONG QT SYNDROME

Алексей Олегович Савельев, Pia Dahlberg, Alex Christensen, Cecilie Bugge et autres

LQT1 patients have augmented response of repolarization dispersion following atropine induced heart rate increase versus healthy controls

Pia Dahlberg, Karl‐Jonas Axelsson, Steen M. Jensen, Gunilla Lundahl et autres

important for repolarization adaptation at heart rate (HR) increase. We therefore compared changes in three global VR dispersion parameters following a rapid, atropine-induced HR increase in LQT1 patients versus healthy controls applying Frank vectorcardiography. The adaptation patterns, magnitudes, and changing rates of …

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Genotype-phenotype correlation of 139 p.Gln530Ter-KCNQ1 patients with inherited long QT syndrome

Aleksei A. Savelev, Nina Larsson, Pia Dahlberg, Alex H. Christensen et autres

BACKGROUND: Variants in the KCNQ1 underlie type 1 long QT syndrome. The clinical manifestations are influenced by the specific KCNQ1 pathogenic variant. OBJECTIVE: We aimed to describe the phenotype in patients found to possess the p.Gln530Ter-KCNQ1 pathogenic variant common in Scandinavian patients …

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Derivation and validation of a machine learning-driven score to predict the diagnostic yield of endomyocardial biopsy

Christian Basile, Christian L. Polte, Piero Gentile, Entela Bollano et autres

Despite its low diagnostic yield, endomyocardial biopsy (EMB) remains the gold standard for establishing a definitive diagnosis in many cardiomyopathies. We developed and validated a machine-learning-based score to predict the likelihood of diagnostic EMB using non-invasive data. We retrospectively analyzed 775 heart …

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Repolarization adaptation to rapid change in heart rate in human models – a review

Lennart Bergfeldt, Karl‐Jonas Axelsson, Pia Dahlberg, Farzad Vahedi et autres

Abstract Hysteresis is a ubiquitous phenomenon and a salient feature of the adaptation of cardiac ventricular repolarization (VR) duration to changes in heart rate (HR), an expression of ultra‐rapid cardiac memory. Against a background of a handful of previous studies, this review …

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Clinical and electrophysiological characterization of a SCN5A gain-of-function mutation associated with CPVT-like arrhythmia

Pia Dahlberg, Serena Pozzi, Linda Bulmer, Alessia Golluscio et autres

The present study aimed to characterize the SCN5A variant I1333V, found in five families with a history of suspected catecholaminergic polymorphic ventricular tachycardia (CPVT). SCN5A encodes the pore-forming subunit of the cardiac voltage-gated sodium channel Na V 1.5. Gain of SCN5A function …

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PO-FP-078 ECG-BASED MACHINE LEARNING TO DIFFERENTIATE CARDIAC SARCOIDOSIS FROM ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY

Francesca Lo Iacono, Anna Slättman, Uzma A. Chaudhry, Pia Dahlberg et autres

PO-FP-061 PHENOTYPIC CHARACTERIZATION OF LONG QT SYNDROME IN 112 SCANDINAVIAN PATIENTS WITH THE KCNQ1 P.GLN530TER VARIANT

Aleksei S. Savelev, Nina Larsson, Pia Dahlberg, Alex Hørby Christensen et autres

PO-07-004 GENETIC FACTORS IN RISK STRATIFICATION OF CONCEALED TYPE 1 LONG QT SYNDROME PATIENTS

Aleksei S. Savelev, Pia Dahlberg, Alex Hørby Christensen, Cecilie Bugge et autres

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency

Linda Bulmer, Charlotta E. A. Ljungman, Johan Hallin, Pia Dahlberg et autres

Pathogenic variants in the EMD gene cause X-linked Emery-Dreifuss muscular dystrophy type 1 (EDMD1), typically presenting with joint contractures and skeletal muscle atrophy, followed by atrial arrhythmias, cardiac conduction defects, and atrial dilatation. Although an association with isolated dilated cardiomyopathy (DCM) has …

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Signal‐Averaged ECG in the Diagnostic Workup for Arrhythmogenic Cardiomyopathy: Insights From the Nordic ARVC Registry

Aleksei A. Savelev, Eivind Westrum Aabel, Anneli Svensson, Pia Dahlberg et autres

Background The diagnostic role of signal‐averaged ECG (SAECG) in arrhythmogenic right ventricular cardiomyopathy (ARVC) has lately been questioned. We assessed the value of SAECG‐derived late ventricular potentials (LP) in ARVC diagnosis and its association with disease manifestations. Methods and Results Patients with …

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