Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes (Record no. 1749)
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042 ## - AUTHENTICATION CODE | |
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Authentication code | dc |
100 10 - MAIN ENTRY--PERSONAL NAME | |
Personal name | Field, Ella |
Relator term | author |
9 (RLIN) | 1214 |
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Title | Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Date of publication, distribution, etc. | 2022-08. |
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General note | /pmc/articles/PMC7613139/ |
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General note | /pubmed/34400558 |
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Summary, etc. | BACKGROUND: Variants in the cardiac myosin-binding protein C gene (MYBPC3) are a common cause of hypertrophic cardiomyopathy (HCM) in adults and have been associated with late-onset disease, but there are limited data on their role in paediatric-onset HCM. The objective of this study was to describe natural history and clinical outcomes in a large cohort of children with HCM and pathogenic/likely pathogenic (P/LP) MYBPC3 variants. METHODS AND RESULTS: Longitudinal data from 62 consecutive patients diagnosed with HCM under 18 years of age and carrying at least one P/LP MYBPC3 variant were collected from a single specialist referral centre. The primary patient outcome was a major adverse cardiac event (MACE). Median age at diagnosis was 10 (IQR: 2-14) years, with twelve patients (19.4%) diagnosed in infancy. Forty-seven (75%) were male and 31 (50%) were probands.Median length of follow-up was 3.1 (IQR: 1.6-6.9) years. Nine patients (14.5%) experienced a MACE during follow-up and five (8%) died. Twenty patients (32.3%) had evidence of ventricular arrhythmia, including 6 patients (9.7%) presenting with out-of-hospital cardiac arrest. Five year freedom from MACE for those with a single or two MYBPC3 variants was 95.2% (95% CI: 78.6-98.5) and 68.4% (95% CI: 40.6-88.9), respectively (hazard ratio 4.65, 95% CI: 1.16-18.66, p=0.03). CONCLUSIONS: MYBPC3 variants can cause childhood-onset disease, which is frequently associated with life-threatening ventricular arrhythmia. Clinical outcomes in this cohort vary substantially from aetiologically and genetically mixed paediatric HCM cohorts described previously, highlighting the importance of identifying specific genetic subtypes for clinical management of childhood HCM. |
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Terms governing use and reproduction | |
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Language note | en |
690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
Topical term or geographic name as entry element | Article |
655 7# - INDEX TERM--GENRE/FORM | |
Genre/form data or focus term | Text |
Source of term | local |
700 10 - ADDED ENTRY--PERSONAL NAME | |
Personal name | Norrish, Gabrielle |
Relator term | author |
9 (RLIN) | 1215 |
700 10 - ADDED ENTRY--PERSONAL NAME | |
Personal name | Acquaah, Vanessa |
Relator term | author |
9 (RLIN) | 1216 |
700 10 - ADDED ENTRY--PERSONAL NAME | |
Personal name | Dady, Kathleen |
Relator term | author |
9 (RLIN) | 1217 |
700 10 - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cicerchia, Marcos |
Relator term | author |
9 (RLIN) | 1218 |
700 10 - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ochoa, Juan Pablo |
Relator term | author |
9 (RLIN) | 1219 |
700 10 - ADDED ENTRY--PERSONAL NAME | |
Personal name | Syrris, Petros |
Relator term | author |
9 (RLIN) | 1220 |
700 10 - ADDED ENTRY--PERSONAL NAME | |
Personal name | McLeod, Karen |
Relator term | author |
9 (RLIN) | 1221 |
700 10 - ADDED ENTRY--PERSONAL NAME | |
Personal name | McGowan, Ruth |
Relator term | author |
9 (RLIN) | 1222 |
700 10 - ADDED ENTRY--PERSONAL NAME | |
Personal name | Fell, Hannah |
Relator term | author |
9 (RLIN) | 1223 |
700 10 - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lopes, Luis R |
Relator term | author |
9 (RLIN) | 1224 |
700 10 - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cervi, Elena |
Relator term | author |
9 (RLIN) | 1225 |
700 10 - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kaski, Juan Pablo |
Relator term | author |
9 (RLIN) | 1226 |
786 0# - DATA SOURCE ENTRY | |
Note | J Med Genet |
856 41 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="http://dx.doi.org/10.1136/jmedgenet-2021-107774">http://dx.doi.org/10.1136/jmedgenet-2021-107774</a> |
Public note | Connect to this object online. |
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