Explanipedia

Characterisation and prognostic implications of the 12-lead electrocardiogram in children with RASopathy-associated hypertrophic cardiomyopathy Open

Olga Boleti, Angela Felicia Sunjaya, Ella Field, Gabrielle Norrish, Jennifer Tollit , et al. · 2025

Background The 12-lead ECG is a simple, inexpensive clinical tool with a key role in the assessment of patients with hypertrophic cardiomyopathy (HCM). The aims of this single centre, retrospective cohort study were to characterise ECG fin…

Sex Differences in Children and Adolescents With Hypertrophic Cardiomyopathy Open

Gabrielle Norrish, Kevin D. Hall, Ella Field, Elena Cervi, Olga Boleti , et al. · 2025

Recommendations on the Organization of Care for Bulgarian Patients with RASopathies, Adopted Within the Framework of The RASopathies – Unknown Problems and Future Perspectives International Scientific Meeting Open

Yana Deyanova, Todor Ruskov, Yuliya Bazdarska, Ivanka Dimova, Alexey Savov , et al. · 2025

On 1–2 November 2024, scientists and clinicians with different backgrounds, as well as patient advocates, gathered in Varna for The RASopathies – Unknown Problems and Future Perspectives international scientific meeting. The event was dedi…

Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy Open

Cordula M. Wolf, Martin Zenker, Olga Boleti, Gabrielle Norrish, Mark W. Russell , et al. · 2024

5 Diagnostic yield of arrhythmogenic right ventricular cardiomyopathy (ARVC) in paediatric relatives of probands with sads versus non-diagnostic post-mortems Open

Jennifer Tollit, Gabrielle Norrish, Olga Boleti, Ella Field, Juan Pablo Kaski · 2024

Background and Purpose Following a Sudden Cardiac Death (SCD) where no cause can be found, evaluation at a specialist centre is indicated for first-degree relatives in order to screen for Inherited Cardiac Conditions (ICCs). Cardiomyopathi…

Natural history and outcomes in paediatric RASopathy‐associated hypertrophic cardiomyopathy Open

Olga Boleti, Gabrielle Norrish, Ella Field, Kathleen Dady, Kim Summers , et al. · 2024

Aims This study aimed to describe the natural history and predictors of all‐cause mortality and sudden cardiac death (SCD)/equivalent events in children with a RASopathy syndrome and hypertrophic cardiomyopathy (HCM). Methods and results T…

Performance of the PRIMaCY sudden death risk prediction model for childhood hypertrophic cardiomyopathy: implications for implantable cardioverter-defibrillator decision-making Open

Gabrielle Norrish, Alexandros Protonotarios, Maria Stec, Olga Boleti, Ella Field , et al. · 2023

Aims The validated HCM Risk-Kids model provides accurate individualized estimates of sudden cardiac death risk in children with hypertrophic cardiomyopathy (HCM). A second validated model, PRIMaCY, also provides individualized estimates of…

Natural history and predictors of all-cause mortality and major arrhythmic cardiac events in pediatric RASopathy associated hypertrophic cardiomyopathy Open

Olga Boleti, Ella Field, Gabrielle Norrish, Vinay Bhole, Orhan Uzun , et al. · 2023

The RASopathies are a group of developmental disorders caused by germline variants in components of the RAS-MAPK pathway, commonly associated with hypertrophic cardiomyopathy (HCM). The aim of this study was to describe the natural history…

Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: validation of HCM Risk-Kids model and predictors of events Open

Olga Boleti, Gabrielle Norrish, Ella Field, J Tollit, Martin Zenker , et al. · 2023

RASopathies represent an important proportion of hypertrophic cardiomyopathy (HCM) cases presenting in childhood. Despite this, there are no published risk factors for sudden cardiac death (SCD) in this cohort of patients. Our primary aim …

Genetic Insights from Consanguineous Cardiomyopathy Families Open

Constance Maurer, Olga Boleti, Paria Najarzadeh Torbati, Farzaneh Norouzi, Anna Nicole Rebekah Fowler , et al. · 2023

Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Both hypertrophic (HCM) and dilated cardiomyopathy (DCM) are genetically heterogeneous and typically present with an autosomal dominant mode of tra…

Disopyramide is a safe and effective treatment for children with obstructive hypertrophic cardiomyopathy Open

Constantin‐Cristian Topriceanu, Ella Field, Olga Boleti, Elena Cervi, Juan Pablo Kaski , et al. · 2022

Disopyramide is a safe and effective treatment for LVOTO-related symptoms in childhood obstructive HCM. Any delay in the need for invasive intervention, particularly during childhood, is of clear clinical benefit.

Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy Open

Gabrielle Norrish, Aoife Cleary, Ella Field, Elena Cervi, Olga Boleti , et al. · 2022

Clinical features and natural history of RASopathy-associated hypertrophic cardiomyopathy in children Open

Olga Boleti, Ella Field, Gabrielle Norrish, Kathleen Dady, KH Summers , et al. · 2021

Background The RASopathies are a group of genetic disorders caused by germline mutations in genes encoding components of the RAS/MAPK signalling pathway and frequently associated with hypertrophic cardiomyopathy (HCM). The clinical feature…

Pregnancy in a Patient With Tetralogy of Fallot and Borderline Pulmonary Arterial Hypertension Open

Alexandra Frogoudaki, Sotiria Liori, P Rafouli-Stergiou, Olga Boleti, Maria Kalantzi , et al. · 2020

Management of pregnancy in patients with complex congenital heart disease and pulmonary arterial hypertension has always been a challenge. We are presenting a patient with complex congenital heart disease and borderline pulmonary arterial …

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