About this Research Topic
The field of inherited cardiac diseases has seen significant advancements with the integration of genetic testing, which is increasingly used to tailor patient follow-up and treatment strategies, such as the use of genetic variant-specific drugs. The correlation between genotype and phenotype is crucial for understanding patient outcomes, including the risk of sudden cardiac death. Identifying causative genetic variants not only aids in disease prevention through genetic counseling but also informs the list of genes recommended for sequencing, which is continually updated based on the latest knowledge. Despite these advancements, there remain gaps in our understanding of the phenotypes associated with new and rare genetic variants. Current studies have provided valuable insights, yet the rarity of some variants means that their clinical significance and the associated phenotypes are not well-documented. Addressing these gaps is essential for improving genetic counseling and patient management in inherited cardiac diseases.
This research topic aims to explore the phenotypes associated with new and/or rare variants in inherited cardiac diseases, including cardiomyopathies, arrhythmias, sudden cardiac death, and congenital cardiac malformations. The primary objectives are to provide data on specific phenotypes, cardiac events, and the implications for genetic counseling. By focusing on rare and new variants, the research seeks to determine the relevance of sequencing these variants based on observed phenotypes and their association with severe outcomes. The goal is to include comprehensive data on cohorts of patients with variants in the same gene, conduct genotype-phenotype correlation analyses, and assess patient outcomes. Additionally, the research will explore new genes linked to patient phenotypes and validate these findings functionally.
To gather further insights into the phenotypes associated with rare and new genetic variants in inherited cardiac diseases, we welcome articles addressing, but not limited to, the following themes:
• Cohort studies of patients carrying variants in the same gene
• Genotype-phenotype correlation analyses
• Outcome analyses of patients with specific genetic variants
• Identification and functional validation of new genes associated with inherited cardiac diseases
• Impact of genetic counseling on patient management and disease prevention
• Data on specific phenotypes and cardiac events linked to rare genetic variants
Please note: Case reports are not accepted for publication in this Research Topic.
This research topic aims to explore the phenotypes associated with new and/or rare variants in inherited cardiac diseases, including cardiomyopathies, arrhythmias, sudden cardiac death, and congenital cardiac malformations. The primary objectives are to provide data on specific phenotypes, cardiac events, and the implications for genetic counseling. By focusing on rare and new variants, the research seeks to determine the relevance of sequencing these variants based on observed phenotypes and their association with severe outcomes. The goal is to include comprehensive data on cohorts of patients with variants in the same gene, conduct genotype-phenotype correlation analyses, and assess patient outcomes. Additionally, the research will explore new genes linked to patient phenotypes and validate these findings functionally.
To gather further insights into the phenotypes associated with rare and new genetic variants in inherited cardiac diseases, we welcome articles addressing, but not limited to, the following themes:
• Cohort studies of patients carrying variants in the same gene
• Genotype-phenotype correlation analyses
• Outcome analyses of patients with specific genetic variants
• Identification and functional validation of new genes associated with inherited cardiac diseases
• Impact of genetic counseling on patient management and disease prevention
• Data on specific phenotypes and cardiac events linked to rare genetic variants
Please note: Case reports are not accepted for publication in this Research Topic.
Keywords: Cardiomyopathy, Arrhythmias, Cardiac congenital malformation, Genetic counselling, Genotype-phenotype correlation
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
