Special Issue "Genetic Diagnostics in Inherited Cardiomyopathies"
Deadline for manuscript submissions: closed (20 September 2021) | Viewed by 6646
Interests: cardiomyopathies; cardiovascular genetics; genetic testing
Interests: cardiovascular genetics; sequencing; diagnostics
Inherited cardiomyopathies in adults and children present a complex challenge to clinicians. The most feared complication, sudden cardiac death, may occur without previous significant signs or symptoms of cardiac disease. The clinical diagnosis of cardiomyopathies is mainly based on cardiac imaging, either using echocardiography or cardiac magnetic resonance imaging. These imaging examinations are typically utilized for patients with a clinical suspicion of a cardiac disease. To recognize family members who might develop a similar cardiomyopathy is sometimes difficult with clinical examination only. Once clinical diagnosis of the index patient has been established, genetic testing may reveal the disease-causing genetic variant. With this it is possible to screen family members for this particular variant. Those individuals who carry the variant can be referred to follow-up, potential treatment, and lifestyle modifications, whereas those not carrying the variant can be relieved from the need of follow-up and various restrictions. Clinical genetic testing has rapidly become a powerful diagnostic tool among others in cardiology. The rapid development of sequencing technologies and variant interpretation has made it possible to use genetic testing for clinical purposes. This Special Issue is focused on the use of genetic testing and genetic background analysis of the most prevalent cardiomyopathy subtypes.
Prof. Dr. Tiina Heliö
Prof. Dr. Juha W. Koskenvuo
Prof. Dr. Katriina Aalto-Setälä
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
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- Hypertrophic cardiomyopathy
- Dilated cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy
- Arrhythmogenic cardiomyopathy
- Mitochondrial cardiomyopathy
- Pediatric cardiomyopathy
- Genetic testing
- Inherited cardiomyopathies