Abstract
Hypertrophic cardiomyopathy (HCM) is a common genetically heterogeneous inherited heart condition most frequently associated with pathogenic variants in genes encoding the cardiac sarcomere. Identifying at-risk relatives through cardiovascular screening and cascade genetic testing promotes early diagnosis and enables personalised management. Multispecialty expertise is required to efficiently and effectively engage HCM families in this process. Initial assessments include clinical evaluation, cardiac imaging, family history analysis, and genetic testing/counselling. These elements are optimally combined in a multidisciplinary family-based clinic that facilitates coordinated management and family support. Here we describe the rationale for, and components of, a multidisciplinary family-based HCM screening clinic.
| Original language | English |
|---|---|
| Pages (from-to) | 934-937 |
| Number of pages | 4 |
| Journal | Canadian Journal of Cardiology |
| Volume | 40 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - May 2024 |
Cite this
- APA
- Author
- BIBTEX
- Harvard
- Standard
- RIS
- Vancouver
Rivers, B. J., Carrick, R. T., Muller, S. A., Barth, A. S., Madrazo, J. A., & James, C. A. (2024). How and Why to Organise Family-Based Screening Clinics for Hypertrophic Cardiomyopathy. Canadian Journal of Cardiology, 40(5), 934-937. https://doi.org/10.1016/j.cjca.2023.09.027
Rivers, Bryana J. ; Carrick, Richard T. ; Muller, Steven A. et al. / How and Why to Organise Family-Based Screening Clinics for Hypertrophic Cardiomyopathy. In: Canadian Journal of Cardiology. 2024 ; Vol. 40, No. 5. pp. 934-937.
@article{167f056b60ca484fbaa41053dac3eae4,
title = "How and Why to Organise Family-Based Screening Clinics for Hypertrophic Cardiomyopathy",
abstract = "Hypertrophic cardiomyopathy (HCM) is a common genetically heterogeneous inherited heart condition most frequently associated with pathogenic variants in genes encoding the cardiac sarcomere. Identifying at-risk relatives through cardiovascular screening and cascade genetic testing promotes early diagnosis and enables personalised management. Multispecialty expertise is required to efficiently and effectively engage HCM families in this process. Initial assessments include clinical evaluation, cardiac imaging, family history analysis, and genetic testing/counselling. These elements are optimally combined in a multidisciplinary family-based clinic that facilitates coordinated management and family support. Here we describe the rationale for, and components of, a multidisciplinary family-based HCM screening clinic.",
author = "Rivers, {Bryana J.} and Carrick, {Richard T.} and Muller, {Steven A.} and Barth, {Andreas S.} and Madrazo, {Jose A.} and James, {Cynthia A.}",
year = "2024",
month = may,
doi = "10.1016/j.cjca.2023.09.027",
language = "English",
volume = "40",
pages = "934--937",
journal = "Canadian Journal of Cardiology",
issn = "0828-282X",
publisher = "Pulsus Group Inc.",
number = "5",
}
Rivers, BJ, Carrick, RT, Muller, SA, Barth, AS, Madrazo, JA & James, CA 2024, 'How and Why to Organise Family-Based Screening Clinics for Hypertrophic Cardiomyopathy', Canadian Journal of Cardiology, vol. 40, no. 5, pp. 934-937. https://doi.org/10.1016/j.cjca.2023.09.027
How and Why to Organise Family-Based Screening Clinics for Hypertrophic Cardiomyopathy. / Rivers, Bryana J.; Carrick, Richard T.; Muller, Steven A. et al.
In: Canadian Journal of Cardiology, Vol. 40, No. 5, 05.2024, p. 934-937.
Research output: Contribution to journal › Article › Academic › peer-review
TY - JOUR
T1 - How and Why to Organise Family-Based Screening Clinics for Hypertrophic Cardiomyopathy
AU - Rivers, Bryana J.
AU - Carrick, Richard T.
AU - Muller, Steven A.
AU - Barth, Andreas S.
AU - Madrazo, Jose A.
AU - James, Cynthia A.
PY - 2024/5
Y1 - 2024/5
N2 - Hypertrophic cardiomyopathy (HCM) is a common genetically heterogeneous inherited heart condition most frequently associated with pathogenic variants in genes encoding the cardiac sarcomere. Identifying at-risk relatives through cardiovascular screening and cascade genetic testing promotes early diagnosis and enables personalised management. Multispecialty expertise is required to efficiently and effectively engage HCM families in this process. Initial assessments include clinical evaluation, cardiac imaging, family history analysis, and genetic testing/counselling. These elements are optimally combined in a multidisciplinary family-based clinic that facilitates coordinated management and family support. Here we describe the rationale for, and components of, a multidisciplinary family-based HCM screening clinic.
AB - Hypertrophic cardiomyopathy (HCM) is a common genetically heterogeneous inherited heart condition most frequently associated with pathogenic variants in genes encoding the cardiac sarcomere. Identifying at-risk relatives through cardiovascular screening and cascade genetic testing promotes early diagnosis and enables personalised management. Multispecialty expertise is required to efficiently and effectively engage HCM families in this process. Initial assessments include clinical evaluation, cardiac imaging, family history analysis, and genetic testing/counselling. These elements are optimally combined in a multidisciplinary family-based clinic that facilitates coordinated management and family support. Here we describe the rationale for, and components of, a multidisciplinary family-based HCM screening clinic.
UR - http://www.scopus.com/inward/record.url?scp=85187288315&partnerID=8YFLogxK
U2 - 10.1016/j.cjca.2023.09.027
DO - 10.1016/j.cjca.2023.09.027
M3 - Article
C2 - 37793569
AN - SCOPUS:85187288315
SN - 0828-282X
VL - 40
SP - 934
EP - 937
JO - Canadian Journal of Cardiology
JF - Canadian Journal of Cardiology
IS - 5
ER -
Rivers BJ, Carrick RT, Muller SA, Barth AS, Madrazo JA, James CA. How and Why to Organise Family-Based Screening Clinics for Hypertrophic Cardiomyopathy. Canadian Journal of Cardiology. 2024 May;40(5):934-937. doi: 10.1016/j.cjca.2023.09.027
