Penetrance of hypertrophic cardiomyopathy in children who are mutation positive

AMC Vermeer, SAB Clur, NA Blom, AAM Wilde… - … Journal of pediatrics, 2017 - Elsevier
Cardiac screening or genetic testing of younger childrencardiac follow-up in a cohort of
predictively tested children (<18 … children visit our outpatient clinic for a predictive genetic test, …

[HTML][HTML] Hereditary hypertrophic cardiomyopathy in children and young adults—The value of reevaluating and expanding gene panel analyses

E Fernlund, A Kissopoulou, H Green, JE Karlsson… - Genes, 2020 - mdpi.com
penetrance, and is most often caused by variants in genes … be included in clinical follow-up
programs with possibilities … and sensitivity of predictive genetic testing in HCM. Future …

Yield of clinical screening for hypertrophic cardiomyopathy in child first-degree relatives: evidence for a change in paradigm

G Norrish, J Jager, E Field, E Quinn, H Fell, E Lord… - Circulation, 2019 - Am Heart Assoc
… Mann–Whitney test was used for length of follow-up with all … predictive genetic testing may
be a more cost-effective way to … study is likely to be an underestimate of the true penetrance

[HTML][HTML] Clinical and genetic diagnosis of familial hypertrophic cardiomyopathy: Results in pediatric cardiology

B Cardoso, I Gomes, P Loureiro, C Trigo… - Revista Portuguesa de …, 2017 - Elsevier
… cardiology reference center and assessed the predictive value of genetic testing. We also
analyzed the age-related penetrance of the disease during the follow-up of these young …

A long term follow-up study of carriers of hypertrophic cardiomyopathy mutations

DR McTaggart, KJ Ogden, JA Marathe - Heart, Lung and Circulation, 2017 - Elsevier
… a single family in Northern Tasmania in whom predictive gene testing was conducted [2], [20].
This … Family 2 is known to have a genetic mutation of relatively high penetrance, with the …

Penetrance of Hypertrophic Cardiomyopathy in At-Risk Children and Young Adults

TJ Meyer - 2018 - search.proquest.com
… to be a significant predictor of HCM penetrance in this cohort … A follow up study from the
United Kingdom was conducted to … was 6% over the course of the 12-year follow-up. Of note, the …

[PDF][PDF] Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives: Evidence for a Change in Paradigm

JP Kaski - researchgate.net
Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up
study of clinical screening and predictive genetic testing. Circulation. 2013;127:48-54. …

Prevalence and progression of late gadolinium enhancement in children and adolescents with hypertrophic cardiomyopathy

A Axelsson Raja, H Farhad, AM Valente, JP Couce… - Circulation, 2018 - Am Heart Assoc
… and short duration of follow-up were important limiting factors, … only predictor of the presence
and extent of LGE in our study. … penetrance but, to the best of our knowledge, this is the first …

Outcomes of contemporary family screening in hypertrophic cardiomyopathy

HG van Velzen, AFL Schinkel, SJ Baart… - Circulation: Genomic …, 2018 - Am Heart Assoc
… from clinical follow-up in 46% of the study population. … where cardiac evaluation and genetic
counseling and testing are … the described age-related penetrance of HCM. A younger age at …

Meta-analysis of penetrance and systematic review on transition to disease in genetic hypertrophic cardiomyopathy

CC Topriceanu, AC Pereira, JC Moon, G Captur… - Circulation, 2024 - Am Heart Assoc
Genetic testing identifies a P/LP variant in ≈30% to 40… studies including older carriers
reported higher penetrance rates. This emphasizes the need for studies with extended follow-up of …