[Inherited heart diseases and storage diseases with cardiac involvement]. / Genetische Herzerkrankungen und Speichererkrankungen mit kardialer Beteiligung.
Internist (Berl)
; 59(10): 1063-1073, 2018 Oct.
Article
em De
| MEDLINE
| ID: mdl-30178098
ABSTRACT
Rare diseases mostly have a genetic cause. Many rare cardiovascular diseases also have a genetic cause. For target-oriented cardiogenetic diagnostics, expert knowledge in human genetics as well as in clinical cardiology is needed. In recent years, the genetic cause of a number of heart diseases have been, at least in part, elucidated. Especially, certain arrhythmias and cardiomyopathy forms have a monogenetic cause. An early genetic diagnosis means that patients can be treated more effectively. Rare storage diseases also usually have a genetic cause and can manifest themselves in the heart; prominent examples are Fabry disease and amyloidosis. As patients with Fabry disease or amyloidosis suffer from a diverse and variable symptomatology, the correct diagnosis is often difficult.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Fabry
/
Cardiopatias
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Amiloidose
Limite:
Humans
Idioma:
De
Revista:
Internist (Berl)
Ano de publicação:
2018
Tipo de documento:
Article