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Cardiovascular disease (CVD) is the leading cause of morbidity and mortality globally and is responsible for an estimated 32% of deaths. An effort over many decades targeting modifiable risk factors has resulted in significant improvements in mortality and age‐adjusted prevalence. However, the improved medical management and decreased mortality have also resulted in a 193% increase in overall CVD prevalence globally over the past 30 years. New approaches to prevention and early disease detection are greatly needed. Genetic testing has been incorporated into routine management of monogenic CVD, such as hypertrophic cardiomyopathy and primary arrhythmic syndromes. Advances in sequencing and computational biology now additionally provide unprecedented insights into the genetic contribution to common complex conditions, including coronary artery disease (CAD) and atrial fibrillation. Maximising the use of these genetic tools for the identification and prediction of CVD will require innovative prospective implementation studies and a rapid upskilling of our health workforce beyond the traditional clinical genetic pathways.

This MJA Narrative Review shares more.

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Authors: Michael P Gray, Diane Fatkin, Jodie Ingles, Elizabeth N Robertson and Gemma A Figtree

Article Type: Narrative Review