Annals of medicine
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Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, with the prevalence of about 1/500. During the last two decades, the knowledge of the etiology, pathogenesis, risk stratification and prevention of sudden death in HCM has substantially advanced. Most often, HCM is familial and caused by mutations in sarcomere genes, inherited in an autosomal dominant manner. ⋯ Key messages Hypertrophic cardiomyopathy, most often caused by defects in sarcomere genes, is the most common inherited heart disease, and a common cause of sudden cardiac death (SCD) in athletes and young subjects. Cardiac imaging, ECG and genetic testing are pivotal in the diagnosis of the disease in patients and first-degree relatives. Implantable cardioverter defibrillators in patients with high risk for SCD and tailored pharmacotherapy are efficient tools in patient care, but so far, exact mechanisms leading to cardiac hypertrophy in HCM are only partially understood, and there is no curative treatment for the disease.
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Interventions directed to individuals by health and social care systems should increase health and welfare of patients and customers. ⋯ CIR should be given a high priority in medical, health care, and health economic research. Clinicians and leaders at all levels of health care can exploit the evidence from CIR. Key messages The new concept of Clinical Impact Research (CIR) is defined as a research field aiming to assess what are the impacts of healthcare and public health interventions targeted to patients or individuals. The term impact refers to all effects caused by the interventions, with particular emphasis on accessibility, quality, equality, effectiveness, safety, and efficiency. CIR uses two study designs: randomized controlled trials (RCTs) (experimental) and benchmarking controlled trials (BCTs) (observational). Suggestions on how to choose between RCT and BCT as the most suitable study design are presented. Simple way of determining the study question in CIR based on the PICO (patient, intervention, control intervention, outcome) framework is presented. CIR creates the scientific basis for clinical decisions. Clinicians and leaders at all levels of health care and those working for public health can use the evidence from CIR for the benefit of patients and the population.
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The long-term prognostic value of a standard 12-lead electrocardiogram (ECG) for predicting cardiac events in apparently healthy middle-aged subjects is not well defined. ⋯ Abnormalities observed on 12-lead electrocardiogram are shown to have prognostic significance for cardiac events in elderly subjects without known cardiac disease. Our results suggest that ECG abnormalities increase the risk of fatal cardiac events also in middle-aged healthy subjects.