| Literature DB >> 30178098 |
Frauke S Czepluch1, Gerd Hasenfuß2.
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.Entities:
Keywords: Amyloidosis; Cardiogenetics; Cardiomyopathies; Fabry disease; Rare diseases
Mesh:
Year: 2018 PMID: 30178098 DOI: 10.1007/s00108-018-0485-3
Source DB: PubMed Journal: Internist (Berl) ISSN: 0020-9554 Impact factor: 0.743