... related to ARVC in paediatric patients (≤18 years) and to describe the phenotype of childhood-onset ARVC. Furthermore, we aimed to assess the penetrance of ARVC disease in genotype positive paediatric relatives. We hypothesized that the frequency of childhood-onset ARVC in children is underestimated...

...://creativecommons.org/licenses/by-nc/4.0/ ), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact [email protected] Graphical Abstract Arrhythmogenic cardiomyopathy Sex Disease penetrance...

... of sudden cardiac death (SCD) in young adults ² in addition to morphological abnormalities and eventually heart failure. ³ Arrhythmogenic cardiomyopathy is commonly concealed until adolescence and has incomplete penetrance and variable progression, ⁴ which makes...

... (NPVs) for AV block, AF, and LVEF < 45% in relation to sustained VA. Cox regression analyses were performed to explore markers of age at severe outcome (i.e. heart transplantation and mortality). Survival analyses were performed for age at penetrant phenotype, the outcome of sustained VA, and severe...

... hypertension BMPR2 ENG ACVRL1 KCNK3 CAV1 penetrance prognosis drug induced pulmonary arterial hypertension epidemiology genetic counselling heritable pulmonary arterial hypertension PAH pulmonary arterial hypertension PAH toxin induced pulmonary arterial hypertension Heritable pulmonary arterial...

...-synonymous changes causing amino acid substitutions) and 200–300 large structural or copy number variants (insertions/deletions, up to several thousands of base-pairs) that are non-disease-causing variations and scattered throughout coding and non-coding genomic regions. penetrance expressivity genetic...