Over the last decade, our knowledge about clinical and molecular aspects of cardiovascular rare diseases has profoundly deepened; the advances in genetic testing and genome sequencing have allowed us to find a personalized, tailored therapeutic approach, thus prolonging the survival and improving the quality of life of hundreds of patients.
The aetiology of cardiovascular rare diseases is known to be multi-factorial. Some forms of cardiovascular disease are influenced by unclear genetic factors but are also affected by factors such as diet, obesity, cigarette smoking, diabetes mellitus and dyslipidaemia. Some are caused by specific gene defects, with environmental factors playing a precipitating role. Others result from complex gene-gene or gene-environment interactions. Advances in knowledge of the molecular genetics of cardiovascular diseases have identified gene aberrations that are associated with cardiovascular disease. Techniques in molecular biology have been applied for rapid and reliable detection of specific gene defects to provide unequivocal diagnosis beneficial for appropriate drug therapy and genetic counselling. Pre-symptomatic diagnosis is possible and carriers can be advised on effective preventive measures.
This Research Topic aims to gather and present novel research in the field of rare cardiovascular diseases. Articles may include:
- The molecular basis of complex cardiovascular conditions,
- New frontiers in gene testing and genome editing,
- Gene therapy for rare conditions,
- New genotype–phenotype correlations,
- Personalized, targeted pharmacological approaches in syndromic conditions,
- Applications of translational research to clinical aspects of rare diseases.
We welcome original research articles, reviews, perspectives, hypotheses and theories, general commentaries, opinions and case reports relevant to this research topic.
Keywords: Genetic Test, Gene Therapy, Genotype-phenotype correlations, Personalized approaches, Diagnostics in rare disease, Syndromic Conditions
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.
