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Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy
- Source :
- ESC Heart Failure
- Publication Year :
- 2019
- Publisher :
- Wiley, 2019.
-
Abstract
- Aims Nationwide large-scale genetic and outcome studies in cohorts with hypertrophic cardiomyopathy (HCM) have not been previously published. Methods and results We sequenced 59 cardiomyopathy-associated genes in 382 unrelated Finnish patients with HCM and found 24 pathogenic or likely pathogenic mutations in six genes in 38.2% of patients. Most mutations were located in sarcomere genes (MYBPC3, MYH7, TPM1, and MYL2). Previously reported mutations by our study group (MYBPC3-Gln1061Ter, MYH7-Arg1053Gln, and TPM1-Asp175Asn) and a fourth major mutation MYH7-Val606Met accounted for 28.0% of cases. Mutations in GLA and PRKAG2 were found in three patients. Furthermore, we found 49 variants of unknown significance in 31 genes in 20.4% of cases. During a 6.7 +/- 4.2 year follow-up, annual all-cause mortality in 482 index patients and their relatives with HCM was higher than that in the matched Finnish population (1.70 vs. 0.87%; P
- Subjects :
- Male
medicine.medical_treatment
DNA Mutational Analysis
ASP175ASN MUTATION
TPM1
030204 cardiovascular system & hematology
DISEASE
0302 clinical medicine
FOUNDER MUTATIONS
Original Research Articles
MAGNETIC-RESONANCE
Original Research Article
Registries
030212 general & internal medicine
Finland
Outcome
education.field_of_study
Hazard ratio
Hypertrophic cardiomyopathy
IMPAIRMENT
Implantable cardioverter-defibrillator
Pedigree
3. Good health
Survival Rate
INSIGHTS
Targeted sequencing
cardiovascular system
Female
Cardiology and Cardiovascular Medicine
Sarcomeres
Heterozygote
medicine.medical_specialty
Population
03 medical and health sciences
ALPHA-TROPOMYOSIN
Internal medicine
Genetics
medicine
Humans
cardiovascular diseases
education
business.industry
MORTALITY
Cardiomyopathy, Hypertrophic
medicine.disease
Confidence interval
HEAVY-CHAIN GENE
3121 General medicine, internal medicine and other clinical medicine
Heart failure
Mutation
MYH7
business
Cardiac Myosins
Follow-Up Studies
Forecasting
Subjects
Details
- ISSN :
- 20555822
- Volume :
- 6
- Database :
- OpenAIRE
- Journal :
- ESC Heart Failure
- Accession number :
- edsair.doi.dedup.....f890b9088a120a8e9c7462ee06ea1f6b