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 …
programs with possibilities … and sensitivity of predictive genetic testing in HCM. Future …
Meta-analysis of penetrance and systematic review on transition to disease in genetic hypertrophic cardiomyopathy
… 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 …
reported higher penetrance rates. This emphasizes the need for studies with extended follow-up of …
Electrocardiographic diagnosis of hypertrophic cardiomyopathy in the pre-and Post-diagnostic phases in children and adolescents
M Yoshinaga, H Horigome, M Ayusawa… - Circulation …, 2021 - jstage.jst.go.jp
… is the low penetrance of HCM during childhood. Previous … +SV3 is effective in predicting a
potential diagnosis of HCM in the 1st … their concerns and develop requirements for follow-up. …
potential diagnosis of HCM in the 1st … their concerns and develop requirements for follow-up. …
Hypertrophic cardiomyopathy in children
S Wang, C Zhu - Asian Cardiovascular and Thoracic Annals, 2022 - journals.sagepub.com
… , due to its incomplete penetrance and variable expressivity. The … During the 12-year study
period, the estimated annual … first year of life during the follow-up period. Furthermore, for each …
period, the estimated annual … first year of life during the follow-up period. Furthermore, for each …
[HTML][HTML] Cardiomyopathies in children: An overview
A Tsatsopoulou, I Protonotarios, Z Xylouri… - Hellenic Journal of …, 2023 - Elsevier
… with worse clinical outcomes and increased penetrance in at-… , the follow-up of paediatric
cardiac disease, and for research … This is a 12-year-old girl MRI depicting severe DCM …
cardiac disease, and for research … This is a 12-year-old girl MRI depicting severe DCM …
Comprehensive genetic testing for pediatric hypertrophic cardiomyopathy reveals clinical management opportunities and syndromic conditions
DB Gal, A Morales, S Rojahn, T Callis, J Garcia… - Pediatric …, 2022 - Springer
… genetic testing and demonstrate how genetic testing results can help patients and their families.
Knowledge that a MolDx can impact clinical … less comfortable utilizing genetic testing, to …
Knowledge that a MolDx can impact clinical … less comfortable utilizing genetic testing, to …
Clinical and Genetic Screening for Hypertrophic Cardiomyopathy in Paediatric Relatives: Changing Paradigms in Clinical Practice
CM Lawley, JP Kaski - Journal of Clinical Medicine, 2023 - mdpi.com
… the child from regular clinical follow-up, … clinical features, such as ECG abnormalities, are
predictive of subsequent phenotype development, age at screening is not, and the penetrance …
predictive of subsequent phenotype development, age at screening is not, and the penetrance …
Unique Aspects of Hypertrophic Cardiomyopathy in Children
M Townsend, A Jeewa, M Khoury… - Canadian Journal of …, 2024 - Elsevier
… to help clinicians counsel families on predictive genetic testing … Incomplete penetrance and
variable expression is the norm … HCM features, with closer follow up during typical periods of …
variable expression is the norm … HCM features, with closer follow up during typical periods of …
Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review
BJ Maron, MY Desai, RA Nishimura, P Spirito… - Journal of the American …, 2022 - jacc.org
… Follow-up serial imaging with contrast CMR about every 3 to 5 … with variable penetrance,
associated with variants in genes … Genetic testing also identifies clinically silent genetically …
associated with variants in genes … Genetic testing also identifies clinically silent genetically …
Contemporary review on pediatric hypertrophic cardiomyopathy: insights into detection and management
… at HCM diagnosis and sarcomeric mutations are predictive of … serial clinical evaluations
because of age-related penetrance (15). … Larger scale studies with longer follow-up durations are …
because of age-related penetrance (15). … Larger scale studies with longer follow-up durations are …