Penetrance of hypertrophic cardiomyopathy in children who are mutation positive

AMC Vermeer, SAB Clur, NA Blom, AAM Wilde… - The Journal of …, 2017 - Elsevier
Objectives To investigate the presence of hypertrophic cardiomyopathy (HCM) at first
cardiac evaluation and during follow-up and cardiac events in predictively tested children …

Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing

MK Jensen, O Havndrup, M Christiansen… - Circulation, 2013 - Am Heart Assoc
Background—The penetrance of hypertrophic cardiomyopathy (HCM) during childhood and
adolescence has been only sparsely described. We studied the penetrance of HCM and the …

[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
Introduction Hypertrophic cardiomyopathy (HCM) is most often of autosomal dominant
inheritance with incomplete penetrance and variable expression. The main purpose of …

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
Background: Hypertrophic cardiomyopathy (HCM) is a heritable myocardial disease with
age-related penetrance. Current guidelines recommend clinical screening of relatives …

Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry

SD Colan, SE Lipshultz, AM Lowe, LA Sleeper… - Circulation, 2007 - Am Heart Assoc
Background—Current information on the epidemiology and outcomes of hypertrophic
cardiomyopathy (HCM) in children is limited by disease diversity and small case series …

Age-and gender-specific mortality rates in childhood hypertrophic cardiomyopathy

I Östman-Smith, G Wettrell, B Keeton… - European heart …, 2008 - academic.oup.com
Aims Hypertrophic cardiomyopathy (HCM) is the commonest inherited cause of sudden
cardiac death in children; current guidelines suggest HCM screening after 12–15 years of …

Comprehensive versus targeted genetic testing in children with hypertrophic cardiomyopathy

ND Bales, NM Johnson, DP Judge, AM Murphy - Pediatric cardiology, 2016 - Springer
Hypertrophic cardiomyopathy (HCM) is a genetic disease of the sarcomere that can be
found in both children and adults and is associated with many causative mutations. In …

Diagnosis and screening of hypertrophic cardiomyopathy in children

GH Dadlani, WG Harmon, E Perez-Colon… - Progress in Pediatric …, 2011 - Elsevier
Hypertrophic cardiomyopathy is the most common inherited cardiovascular disorder and the
leading cause of sudden cardiac death in young people in the United States. Wide genetic …

Hypertrophic cardiomyopathy and its management in children

SW Denfield, JA Towbin - ACC Current Journal Review, 1995 - Elsevier
Hypertrophic cardiomyopathy is a heterogeneous disorder, both from a phenotypic and
genotypic standpoint. Predicting which pediatric patients are at greatest risk for disease …

Patients with hypertrophic cardiomyopathy and normal genetic investigations have few affected relatives

SK Nielsen, FG Hansen, TB Rasmussen… - Journal of the American …, 2023 - jacc.org
Background Current guidelines recommend that relatives of index patients with hypertrophic
cardiomyopathy (HCM) are offered clinical investigations to identify individuals at risk of …