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Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy
- Source :
- Heart and Vessels. 32:700-707
- Publication Year :
- 2016
- Publisher :
- Springer Science and Business Media LLC, 2016.
-
Abstract
- Although some studies have attempted to find useful prognostic factors in hypertrophic cardiomyopathy (HCM), those results are not fully helpful for use in actual clinical practice. Furthermore, several genetic abnormalities associated with HCM have been identified. However, the genotype-phenotype correlation in HCM remains to be elucidated. Here, we attempted to assess patients with different types of gene mutations causing HCM and investigate the prognosis. A total of 140 patients with HCM underwent a screening test for myofilament gene mutations by direct sequencing of eight sarcomeric genes. Patients with a single mutation in cardiac troponin T, cardiac troponin I, α-tropomyosin, and regulatory and essential light chains were excluded from the study because the number of cases was too small. The clinical presentations and outcomes of the remaining 127 patients with HCM, 31 β-myosin heavy chain (MYH7) mutation carriers, 19 cardiac myosin-binding protein C (MYBPC3) mutation carriers, and 77 mutation non-carriers were analyzed retrospectively. MYBPC3 mutation carriers had a high frequency of ventricular arrhythmia and syncope. Kaplan-Meier curves revealed no significant difference in prognosis among the three groups, but a lack of family history of sudden death (SD) and a past history of syncope were significantly related to poor prognosis. An absence of family history of SD and past history of syncope are useful prognostic factors in patients with HCM. MYH7 and MYBPC3 mutations did not significantly influence prognosis compared to non-carriers. However, patients with the MYBPC3 mutation should be closely followed for the possibility of SD.
- Subjects :
- Adult
Male
0301 basic medicine
Heterozygote
medicine.medical_specialty
Adolescent
Kaplan-Meier Estimate
macromolecular substances
030204 cardiovascular system & hematology
Gene mutation
Sudden death
Young Adult
03 medical and health sciences
0302 clinical medicine
Japan
Predictive Value of Tests
Internal medicine
medicine
Humans
cardiovascular diseases
Family history
Child
Genetic Association Studies
Myosin Heavy Chains
business.industry
Hypertrophic cardiomyopathy
Cardiomyopathy, Hypertrophic
Middle Aged
Vascular surgery
medicine.disease
Pedigree
Cardiac surgery
Death, Sudden, Cardiac
Phenotype
030104 developmental biology
Case-Control Studies
Mutation
Mutation (genetic algorithm)
cardiovascular system
Cardiology
Regression Analysis
Female
MYH7
Carrier Proteins
Cardiology and Cardiovascular Medicine
business
Cardiac Myosins
Follow-Up Studies
Subjects
Details
- ISSN :
- 16152573 and 09108327
- Volume :
- 32
- Database :
- OpenAIRE
- Journal :
- Heart and Vessels
- Accession number :
- edsair.doi.dedup.....897eaf3f57af35067fc8138c6a7a0b30