Resumo

LAING, N; KRAUS, S M; SHABOODIEN, G  e  NTUSI, N A B. An overview of the genetic basis of cardiovascular disease. SAMJ, S. Afr. med. j. [online]. 2019, vol.109, n.6, pp.364-370. ISSN 2078-5135.  http://dx.doi.org/10.7196/samj.2019.v109i6.14069.

Cardiovascular disease (CVD) is the leading cause of mortality globally. CVD comprises a wide range of clinical entities, i.e. cardiomyopathies, hypertension, aortopathies, coronary artery disease, valvular heart disease, congenital heart disease, dyslipidaemia and arrhythmias, which are heritable. In the past 5 decades, substantial effort has been invested in understanding the genes and specific DNA sequence variants responsible for this heritability. The explosion of new knowledge of genetics and genomics of rare and common forms of CVD has provided a framework for precision cardiology. In this brief review, we summarise the current state of concepts and knowledge of the genetic basis of CVD and reflect on the lessons learnt regarding monogenic, complex polygenic and common forms of CVD. We highlight the pitfalls in interpretation of genetic variants and explore the challenging journey of gene discovery - from genomic localisation to mechanistic insights and finally developing therapies based on identified targets. We discuss the impact of next-generation sequencing and the role of functional studies in understanding the mechanisms by which genetic variation contributes to CVD. Finally, we recommend an approach to genetic testing and counselling for affected individuals and their family members, who may be at risk of developing CVD.

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