Genetics of Hereditary Heart Diseases
A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Cardiology".
Deadline for manuscript submissions: closed (10 December 2019) | Viewed by 21459
Special Issue Editor
Special Issue Information
Dear Colleagues,
Inherited cardiac diseases constitute an increasingly recognized group of diseases that represent the leading causes of sudden cardiac death and heart failure in young patients, especially those younger than forty years of age. Most prevalent diseases comprise the subgroup of cardiomyopathies, disorders with primary abnormalities in the structure and function of the myocardium, and the subgroup of channelopathies, disorders resulting from the dysfunction of cardiac ion channels. Over the last three decades, there has been tremendous progress in genetics research that has identified the molecular causes for these diseases, in more than one hundred genes, and subsequently shed light on their underlying pathways and pathophysiology. Recent knowledge also suggests there is a complex interplay between genetic architecture (rare and frequent variants) and environmental factors (such as sport, myocarditis, and drugs), with important consequences for the global understanding of these monogenic diseases as well as more common and complex diseases such as heart failure and common arrhythmias.
Meantime, genetic testing and high throughput resequencing have been developed in clinical practice in order to improve the medical management of patients and their families through personalized medicine.
Finally, the emerging challenge is the translational application of this new knowledge into the development of new therapeutics, including focused pharmacological approaches such as small molecules interacting with mutated proteins, and gene editing or gene-based approaches according to the underlying mutation specific pathophysiology.
The present Special Issue aims at presenting the most recent knowledge in the rapidly expanding field of inherited cardiac diseases. This Issue will cover various aspects in order to provide guidance to practitioners in diagnosing and treating individuals with these cardiac disorders.
Prof. Dr. Philippe Charron
Guest Editor
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Keywords
- Heart diseases
- Gene
- Cardiomyopathies
- Channelopathies
- Predictive genetic testing
- Sudden death
- Arrhythmia
- Heart failure
- Prognosis
- Therapy