[Cardiac involvement in storage diseases : Role of genetic diagnostics].

[Cardiac involvement in storage diseases : Role of genetic diagnostics].
Herz. 2019 Jun 24;:
Authors: Trenkwalder T, Schunkert H, Reinhard W
Abstract
In clinical practice cardiac involvement in patients with storage disorders is often diagnosed at a late and advanced stage of the disease with pronounced organ damage. As the currently available targeted therapies can only stop the progress of the disease, a timely diagnosis is of particular relevance. Genetic testing has become increasingly more important in cases of suspected cardiac manifestation in storage disorders. Thereby, diagnostic genetic testing can help to confirm the diagnosis and may also be relevant for therapeutic decision making. In relatives of affected patients predictive genetic testing provides the opportunity for an early therapeutic intervention.
PMID: 31236604 [PubMed - as supplied by publisher]

Source: Herz - June 28, 2019 Category: Cardiology Tags: Herz Source Type: research