The role of echocardiography for diagnosis and prognostic stratification in hypertrophic cardiomyopathy
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REVIEW ARTICLE
The role of echocardiography for diagnosis and prognostic stratification in hypertrophic cardiomyopathy Leonard Mandeş1,2 · Monica Roşca1,2 · Daniela Ciupercă1 · Bogdan A. Popescu1,2 Received: 13 February 2020 / Revised: 1 March 2020 / Accepted: 10 March 2020 © The Author(s) 2020
Abstract Hypertrophic cardiomyopathy (HCM) is the most frequent cardiac disease with genetic substrate, affecting about 0.2–0.5% of the population. While most of the patients with HCM have a relatively good prognosis, some are at increased risk of adverse events. Identifying such patients at risk is important for optimal treatment and follow-up. While clinical and electrocardiographic information plays an important role, echocardiography remains the cornerstone in assessing patients with HCM. In this review, we discuss the role of echocardiography in diagnosing HCM, the key features that differentiate HCM from other diseases and the use of echocardiography for risk stratification in this setting (risk of sudden cardiac death, heart failure, atrial fibrillation and stroke). The use of modern echocardiographic techniques (deformation imaging, 3D echocardiography) refines the diagnosis and prognostic assessment of patients with HCM. The echocardiographic data need to be integrated with clinical data and other information, including cardiac magnetic resonance, especially in challenging cases or when there is incomplete information, for the optimal management of these patients. Keywords Hypertrophic cardiomyopathy · Echocardiography · Diagnosis · Prognosis
Introduction Hypertrophic cardiomyopathy (HCM) is the most frequent disease with genetic substrate that involves the myocardium. The phenotype is usually heterogeneous as a result of both variability in the genetic mutations and incomplete penetrance in the affected population [1]. The current estimation of HCM prevalence (1 in 500 persons) is based on studies performed more than 20 years ago, notably the CARDIA cohort study [2–4]. Since the publication of those results, significant progress has been made in understanding the disease from both clinical and genetic perspectives, while the diagnostic tools have become Leonard Mandeş and Monica Roşca have contributed equally to this article. * Bogdan A. Popescu [email protected] 1
University of Medicine and Pharmacy “Carol Davila”, Euroecolab, Bucharest, Romania
Emergency Institute for Cardiovascular Diseases “Prof. Dr. C. C. Iliescu”, Şos. Fundeni 258, Sector 2, 022328 Bucharest, Romania
2
more refined [5]. Thus, the true prevalence of HCM may be actually higher (up to 1 in 200 persons) [5–7]. While patients who are genotype positive–phenotype negative are not included in the prevalence estimates for HCM, they are nevertheless at increased risk of developing the disease, although the evolution to clinically significant disease is currently unpredictable [8–10]. Earlier diagnosis and proper prognostic stratification will allow reduction in disease-related morbidity/mortality by promoting timely treatment [11
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