I. Olivotto

Genotype and arrhythmic risk in dilated cardiomyopathy.

Treatment and Outcomes of Kawasaki Disease Over 40 Years.

BACKGROUND Kawasaki disease (KD) is the leading cause of acquired heart disease in children in developed countries. Long-term prognosis depends on coronary sequelae, yet Western longitudinal data integrating acute-phase features, treatment, and long-term coronary outcomes remain limited. METHODS We conducted a longit...

Spanish founder variant in MYBPC3: implications of diagnostic criteria, clinical phenotype, and prognosis.

INTRODUCTION AND OBJECTIVES MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). This study presents the clinical phenotype of a founder variant in MYBPC3, p.Arg891Alafs*160, present in 47 families from southern Spain, and compares it with other described founder truncating variants in MYBPC...

Noninvasive Characterization of Myocardial Diseases With Hypertrophic Phenotypes Using Integrated ECG/Echocardiographic Indices.

BACKGROUND Indices reflecting the discordance between QRS complex voltages on ECG and left ventricular (LV) wall thickness or LV mass index on echocardiogram (echo) have enabled identification of cardiac amyloidosis (CA) among patients with hypertrophic hearts. However, this evidence comes from studies that have exclud...

Atrial Fibrillation in Genotyped Dilated Cardiomyopathy: Epidemiology, Risk Factors, and Outcomes: Insights From the SHaRe Registry.

BACKGROUND Atrial fibrillation (AF) is the most common arrhythmia in dilated cardiomyopathy (DCM) and is associated with adverse outcomes. However, the genetic determinants of AF risk and its prognostic significance across genotyped DCM subtypes remain unknown. METHODS In this observational cohort study, we analyzed...

Pattern of use of conventional medical treatments of heart failure with reduced ejection fraction in end-stage hypertrophic cardiomyopathy.

BACKGROUND In approximately 5-10% of cases, hypertrophic cardiomyopathy (HCM) presents left ventricular remodeling with hypokinesia and dilatation, defined "end-stage" phase (ES) of the disease, typically associated with development of advanced heart failure (HF). Prescription of conventional medical treatments for HF...

Impact of variant reclassification on genetic testing yield and clinical outlook in patients with hypertrophic cardiomyopathy.

Systematic reclassification of genetic variants led to a refinement of variant classification accuracy due to downgrading of 5.5% of P/LP variants, although 18.3%VUS/B/LB were upgraded to P/LP.

Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies

The results indicate that pangenome-based workflows aid improved detection of large variants from targeted sequencing data in the clinical context and suggest that they may contribute to more unified variant detection frameworks for all-size genetic variants in the future.