Cardiac Amyloidosis Associated With a Novel Transthyretin Aspartic Acid-18 Glutamic Acid De Novo Mutation
| Autor: | Takuroh Imamura, Masamitsu Nakazato, Takeshi Matsuo, Tanenao Eto, Tetsunori Ishikawa, Hiroyuki Komatsu, Naoteru Hirayama, Yukari Date, Toshihiro Tsuruda, Motoko Sumi, Fumiyo Aoyama, Shinya Ashizuka |
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| Jazyk: | angličtina |
| Rok vydání: | 2003 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty DNA Mutational Analysis Mutation Missense Gene mutation Transthyretin Syncope Fatal Outcome Restrictive cardiomyopathy Internal medicine medicine Humans Prealbumin Heart Failure Cardiomyopathy Restrictive biology Amyloidosis Genetic Variation nutritional and metabolic diseases General Medicine medicine.disease Autonomic nervous system Endocrinology Cardiac amyloidosis Heart failure biology.protein Primer (molecular biology) Cardiology and Cardiovascular Medicine |
| Zdroj: | Circulation Journal. 67(11):965-968 |
| ISSN: | 1346-9843 |
| DOI: | 10.1253/circj.67.965 |
| Popis: | A 40-year-old man presented with initial symptoms of syncope caused by restrictive cardiomyopathy and autonomic nervous system impairment, but it was confirmed that he had a novel transthyretin (TTR) variant, aspartic acid-18 glutamic acid (Glu), and a de novo gene mutation. A polymerase chain reaction-induced mutation restriction analysis with a mismatched sense primer demonstrated that he was heterozygous for TTR Glu 18. Liver transplantation was not performed because of profound weakness and severe postural hypotension. Right-sided heart failure predominated in association with low output syndrome and a gradual decrease in total QRS voltage on electrocardiogram over 5 years of follow-up. Autonomic neuropathy developed and he eventually died of both-sided heart failure at the age of 45 years. Immunohistochemical and DNA studies are important to diagnose and treat TTR-related cardiac amyloidosis. |
| Databáze: | OpenAIRE |
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