Martin, C; Lambiase, P; (2018) Inherited Conduction Disease and Atrial Fibrillation. In: Kumar, D and Elliott, P, (eds.) Cardiovascular Genetics and Genomics: Principles and Clinical Practice. (pp. 481-522). Springer: Cham, Switzerland.

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Abstract

Normal atrial contraction requires homogeneous electrical propagation through the myocardium. Disruption of the structural or ionic components of the sinus node, atrial myocytes or conduction system can result in sinus bradycardia, atrial fibrillation (AF) or premature atrioventicular block. This chapter discusses the key molecular mechanisms determining the development of AF & conduction disorders. Both may exist as a monogenic disease, and research in these cases in animal models or human tissue focuses on investigating expression of specific genes coding ion channels, cytoskeletal complexes or transcription factors. Alternatively, patients with AF/conduction disease may have a genetic background that predisposes to the disease without it necessarily segregating in a family. Research approaches examine genetic variants in the human population, through candidate single nucleotide polymorphism studies or genome wide association studies. Knowledge of potentially causative genes and association loci may lead to the development of targeted treatment strategies for these conditions utilising the underlying molecular pathway(s). This chapter will systematically explore these aspects.

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