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Three siblings of familial amyloid cardiomyopathy with isoleucine-50 transthyretin mutation
- Source :
- International journal of cardiology. 61(2)
- Publication Year :
- 1997
-
Abstract
- We herein describe three siblings with familial amyloid cardiomyopathy in a Japanese family, who demonstrated an Ile-50 mutation in the transthyretin gene. In their clinical course, the symptoms started at from 50 to 55 years of age, and two cases died within 5 years. However, one case is still alive seven years after onset probably due to either the implantation of a pacemaker for a complete atrio-ventricular block or the administration of dimethylsulphoxide. Based on our findings, some differences were observed not only in the mutation of the transthyretin gene but also in the clinical course between our cases and the previously reported cases.
- Subjects :
- Male
medicine.medical_specialty
Heart block
Cardiomyopathy
Transthyretin Gene
Gastroenterology
Familial amyloid cardiomyopathy
Electrocardiography
Fatal Outcome
Internal medicine
medicine
Humans
Point Mutation
Prealbumin
Isoleucine
Codon
biology
business.industry
Amyloidosis
Point mutation
Cardiac Pacing, Artificial
Middle Aged
medicine.disease
Transthyretin
Endocrinology
Heart Block
Mutation (genetic algorithm)
biology.protein
Female
Cardiology and Cardiovascular Medicine
business
Cardiomyopathies
Subjects
Details
- ISSN :
- 01675273
- Volume :
- 61
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- International journal of cardiology
- Accession number :
- edsair.doi.dedup.....05af64efff12f2d63957acea63c99a29