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      Apical hypertrophic cardiomyopathy, are low-risk patients really at low risk? A case report

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          Abstract

          Background

          Hypertrophic cardiomyopathy (HCM) is a genetically determined myocardial disease that constitutes the main cause of sudden cardiac death (SCD) in young athletes. Apical HCM (ApHCM) represents a complex subset of patients, whose risk of SCD seems not negligible. Most applied scores likely underestimate the risk of heart events in this subset of patients.

          Case summary

          We report the case of a 55-year-old man who was admitted in the emergency department after an episode of aborted sudden death due to ventricular fibrillation. The electrocardiogram made at admission was noted for atrial fibrillation and a new-onset left bundle branch block. Emergency coronary angiography was normal. The electrocardiogram was repeated and showed symmetrical and profound inversion of T waves in the lateral leads. Transthoracic echocardiogram and cardiac magnetic resonance revealed left ventricular apical hypertrophy suggestive of apical variant of HCM. A cardiac defibrillator was implanted for secondary prevention of SCD. After 6 months of follow-up no further rhythmic events were noted.

          Discussion

          Although low, the risk of SCD of ApHCM patients is not negligible. This case illustrates the need for searching of new predictors of rhythmic risk in patients with ApHCM.

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          Most cited references12

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          Clinical Course and Management of Hypertrophic Cardiomyopathy

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            Hypertrophic cardiomyopathy.

            Hypertrophic cardiomyopathy is a common inherited cardiovascular disease present in one in 500 of the general population. It is caused by more than 1400 mutations in 11 or more genes encoding proteins of the cardiac sarcomere. Although hypertrophic cardiomyopathy is the most frequent cause of sudden death in young people (including trained athletes), and can lead to functional disability from heart failure and stroke, the majority of affected individuals probably remain undiagnosed and many do not experience greatly reduced life expectancy or substantial symptoms. Clinical diagnosis is based on otherwise unexplained left-ventricular hypertrophy identified by echocardiography or cardiovascular MRI. While presenting with a heterogeneous clinical profile and complex pathophysiology, effective treatment strategies are available, including implantable defibrillators to prevent sudden death, drugs and surgical myectomy (or, alternatively, alcohol septal ablation) for relief of outflow obstruction and symptoms of heart failure, and pharmacological strategies (and possibly radiofrequency ablation) to control atrial fibrillation and prevent embolic stroke. A subgroup of patients with genetic mutations but without left-ventricular hypertrophy has emerged, with unresolved natural history. Now, after more than 50 years, hypertrophic cardiomyopathy has been transformed from a rare and largely untreatable disorder to a common genetic disease with management strategies that permit realistic aspirations for restored quality of life and advanced longevity. Copyright © 2013 Elsevier Ltd. All rights reserved.
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              Genetics of hypertrophic cardiomyopathy: A review of current state.

              Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations but also the severity of phenotype, symptom burden, and the risk of complications, such as heart failure and sudden death. The penetrance is incomplete and it is age and gender dependent. It is accepted as a disease of the sarcomere. Sixty percent of HCM cases carry mutations in 1 of 8 sarcomere protein genes, mainly non-sense MYBPC3 and missense MYH7 variants. Young patients with severe phenotype and other clinical features are included in proposed scores for prediction of high positive genetic result. The number of genes reported as disease-causing has increased in the last few years, in some cases without robust evidence. Currently available in silico tools are not always useful for differentiation between benign and deleterious variants. There is enough information on genotype-phenotype correlations to start understanding the mechanisms of the disease. Genetic and environmental modifiers have been explored with some interesting insights from miRNA studies with potential as biomarkers and therapeutic agents. There is an additional value of genetic testing in HCM for prognosis. Knowledge about genetics and functional studies are the basis of near future therapies.
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                Author and article information

                Contributors
                Role: Handling Editor
                Role: Editor
                Role: Editor
                Role: Editor
                Role: Editor
                Role: Editor
                Journal
                Eur Heart J Case Rep
                Eur Heart J Case Rep
                ehjcr
                European Heart Journal: Case Reports
                Oxford University Press
                2514-2119
                October 2020
                23 September 2020
                23 September 2020
                : 4
                : 5
                : 1-4
                Affiliations
                Cardiology Department, Hospital of Braga , Sete Fontes—São Victor, 4710-243 Braga, Portugal
                Cardiology Department, Hospital of Braga , Sete Fontes—São Victor, 4710-243 Braga, Portugal
                Cardiology Department, Hospital of Braga , Sete Fontes—São Victor, 4710-243 Braga, Portugal
                Cardiology Department, Hospital of Braga , Sete Fontes—São Victor, 4710-243 Braga, Portugal
                Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Campus de Gualtar , 4710-057 Braga, Portugal
                ICVS/3B’s-PT Government Associate Laboratory , Campus de Gualtar, 4710-057 Braga/Guimarães, Portugal
                Author notes
                Corresponding author. Tel: +351 91 8264937, Email: ruifilesflores@ 123456gmail.com
                Author information
                http://orcid.org/0000-0002-4176-5814
                http://orcid.org/0000-0002-2722-8596
                http://orcid.org/0000-0002-9314-0453
                Article
                ytaa316
                10.1093/ehjcr/ytaa316
                7649509
                48361453-d978-4a43-9626-64c07384a3a7
                © The Author(s) 2020. Published by Oxford University Press on behalf of the European Society of Cardiology.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com

                History
                : 27 April 2020
                : 05 June 2020
                : 13 August 2020
                Page count
                Pages: 4
                Categories
                Case Reports
                Other
                AcademicSubjects/MED00200

                hypertrophic cardiomyopathy,apical hypertrophic cardiomyopathy,sudden cardiac death,implanted cardiac defibrillator,secondary prevention,case report

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