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Netherlands Heart Journal
Gepubliceerd in:

01-12-2009 | original article

Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: Dutch cardiologists and the care of mutation carriers

Auteurs: J. T. Vehmeijer, I. Christiaans, I. M. van Langen, E. Birnie, G. J. Bonsel, E. M. A. Smets, A. A. M. Wilde

Gepubliceerd in: Netherlands Heart Journal | Uitgave 12/2009

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Extract

With a prevalence of about one in 500, hypertrophic cardiomyopathy (HCM) is one of the most common genetic diseases.1 HCM is inherited as an autosomal dominant trait caused by a large variety of mutations – around 450 different mutations in more than 11 genes have been reported.2 HCM is clinically classified as a (usually asymmetric) thickening of the myocardial wall of the left ventricle, often involving the interventricular septum, which cannot be accounted for by other clinical diseases.3,4 Most patients experience few if any symptoms. If present, symptoms are diverse. Common symptoms are chest pain during exertion and dyspnoea.5 …
vorige artikel Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?
volgende artikel Reduced regional myocardial perfusion reserve is associated with impaired contractile performance in idiopathic dilated cardiomyopathy
Literatuur
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Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation. 1995;92:785–9.
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Alcalai R, Seidman JG, Seidman CE. Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol. 2008;19:104–10.
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Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008;29:270–6.
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Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807–16.
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Elliott P, McKenna WJ. Hypertrophic cardiomyopathy. Lancet. 2004;363:1881–91.
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Elliott PM, Gimeno JR, Thaman R, et al. Historical trends in reported survival rates in patients with hypertrophic cardiomyopathy. Heart. 2006;92:785–91.
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Maron BJ, Olivotto I, Spirito P, et al. Epidemiology of hypertrophic cardiomyopathy-related death: revisited in a large nonreferral-based patient population. Circulation. 2000;102:858–64.
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Miller MA, Gomes JA, Fuster V. Risk stratification of sudden cardiac death in hypertrophic cardiomyopathy. Nat Clin Pract Cardiovasc Med. 2007;4:667–76.
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Maron BJ, McKenna WJ, Danielson GK, et al. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol. 2003;42:1687–713.
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Elliott PM, Poloniecki J, Dickie S, et al. Sudden death in hypertrophic cardiomyopathy: identification of high risk patients. J Am Coll Cardiol. 2000;36:2212–8.
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Epstein AE, Dimarco JP, Ellenbogen KA, et al. ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: Executive Summary. A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices). Circulation. 2008;117:e350–408.
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Zipes DP, Camm AJ, Borggrefe M, et al. ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (writing committee to develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death): developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Circulation. 2006;114:e385–e484.
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McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M. Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart. 1997;77:130–2.
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Niimura H, Bachinski LL, Sangwatanaroj S, et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med. 1998;338:1248–57.
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van Langen I, Birnie E, Leschot NJ, Bonsel GJ, Wilde AA. Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for the genomics era? Eur Heart J. 2003;24:560–6.
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Remme WJ, McMurray JJ, Hobbs FD, et al. Awareness and perception of heart failure among European cardiologists, internists, geriatricians, and primary care physicians. Eur Heart J. 2008;29:1739–52.
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Metagegevens
Titel
Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: Dutch cardiologists and the care of mutation carriers
Auteurs
J. T. Vehmeijer
I. Christiaans
I. M. van Langen
E. Birnie
G. J. Bonsel
E. M. A. Smets
A. A. M. Wilde
Publicatiedatum
01-12-2009
Uitgeverij
Bohn Stafleu van Loghum
Gepubliceerd in
Netherlands Heart Journal / Uitgave 12/2009
Print ISSN: 1568-5888
Elektronisch ISSN: 1876-6250
DOI
https://doi.org/10.1007/BF03086305

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