Francesca Girolami

TL;DR: The cumulative burden of HCM is substantial and dominated by heart failure and atrial fibrillation occurring many years after diagnosis, highlighting the need for close surveillance throughout life and the need to develop disease-modifying therapies.

TL;DR: Screening for sarcomere protein gene mutations in HCM identifies a broad subgroup of patients with increased propensity toward long-term impairment of left ventricular function and adverse outcome, irrespective of the myofilament (thick, intermediate, or thin) involved.

TL;DR: Hypertrophic cardiomyopathy caused by triple Sarcomere gene mutations was rare but conferred a remarkably increased risk of end-stage progression and ventricular arrhythmias, supporting an association between multiple sarcomere defects and adverse outcome.

TL;DR: Severe microvascular dysfunction is a potent long-term predictor of adverse LV remodeling and systolic dysfunction in HCM and is a potential target for prevention of disease progression and heart failure in H CM.

TL;DR: The current application of genetics in clinical management is reviewed, focusing on hypertrophic cardiomyopathy as a paradigm; state-of-the-art genetic testing technology is discussed; emerging knowledge of gene expression in sarcomeric cardiomeopathies is reviewed; and both the prospects, as well as the challenges, of bringing genetics to medicine are discussed.