About this Research Topic
Genetics is increasingly used to adapt patients' follow-up and their treatment (such as a genetic variant-specific drug) in the field of inherited cardiac disease. Correlating genotype and phenotype allows us to investigate patient outcomes, e.g. sudden cardiac death. Additionally, identifying a causative variant for the development of a disease can help to prevent the disease in a given family via genetic counseling. Thus, genetic testing is recommended for inherited cardiac disease, and the list of genes recommended to be sequenced is adapted according to current knowledge.
The aim of this Research Topic is to explore the phenotypes associated with new and/or rare variants in inherited cardiac diseases (cardiomyopathies, arrhythmias, sudden cardiac death, and congenital cardiac malformation) to provide data on specific phenotypes, cardiac events, and genetic counseling. For example, even if a genetic variant is rare, if the observed phenotype is specific and associated with severe outcomes, it could be interesting to screen it in the future. As we are focusing on rare/new variants, collecting data is important to argue if their sequencing is relevant.
We aim to include data on cohorts of patients carrying variants in the same gene, genotype-phenotype correlation analysis, outcome analysis; and data on new genes associating patient phenotype and functional validation. Data on the impact of genetic counseling in the field of inherited cardiac disease are also suitable for publication. Original research as well as short reports are suitable for this topic. Please note: Case reports are not accepted for publication in this Research Topic.
The aim of this Research Topic is to explore the phenotypes associated with new and/or rare variants in inherited cardiac diseases (cardiomyopathies, arrhythmias, sudden cardiac death, and congenital cardiac malformation) to provide data on specific phenotypes, cardiac events, and genetic counseling. For example, even if a genetic variant is rare, if the observed phenotype is specific and associated with severe outcomes, it could be interesting to screen it in the future. As we are focusing on rare/new variants, collecting data is important to argue if their sequencing is relevant.
We aim to include data on cohorts of patients carrying variants in the same gene, genotype-phenotype correlation analysis, outcome analysis; and data on new genes associating patient phenotype and functional validation. Data on the impact of genetic counseling in the field of inherited cardiac disease are also suitable for publication. Original research as well as short reports are suitable for this topic. Please note: Case reports are not accepted for publication in this Research Topic.
Keywords: Cardiomyopathy, Arrhythmias, Cardiac congenital malformation, Genetic counselling, Genotype-phenotype correlation
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