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Insights and challenges in hypertrophic cardiomyopathy, 2012

Einsichten in die hypertrophe Kardiomyopathie und ihre Herausforderungen 2012

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Abstract

We present a contemporary overview of hypertrophic cardiomyopathy (HCM), incorporating recent thinking on disease mechanisms and advances in therapy. Clinical, pathological, genetic, and mechanistic definitions of HCM are discussed. The genetic profile of HCM in both adults and children is explored to the extent of present knowledge. The spectrum of morphological and histological abnormalities in HCM is reviewed, including involvement of the right ventricle, which is less widely recognised. Morbidity and mortality from HCM may result from diastolic dysfunction, ischaemia, left ventricular outflow tract obstruction, mitral regurgitation, supraventricular and ventricular arrhythmia, or—less commonly—progression to “burnt out” disease or sudden cardiac death (SCD). Defibrillators offer an efficacious means of averting SCD, but are not without their complications, underscoring the importance of identifying at-risk cases. We address the strengths and weaknesses of prognostication based on readily obtainable clinical markers, and discuss the integration of auxiliary approaches such as genotyping, cardiovascular magnetic resonance, and fractionation analysis into existing risk stratification guidelines. Finally, we provide an update on the pharmacological and interventional management of HCM, including the advent of disease-modifying therapy.

Zusammenfassung

Dieser Beitrag gibt einen zeitgemäßen Überblick über die hypertrophe Kardiomyopathie (HCM) einschließlich aktueller Ansichten zu Krankheitsmechanismen und Fortschritten in der Therapie. Klinische, pathologische, genetische und mechanistische Definitionen der HCM werden diskutiert. Das genetische Profil der HCM wird sowohl bei Erwachsenen als auch bei Kindern im Umfang des gegenwärtigen Wissenstands untersucht. Dargestellt wird auch das Spektrum morphologischer und histologischer Veränderungen bei HCM, einschließlich der Beteiligung des rechten Ventrikels, die in geringerem Ausmaß verstanden ist. Morbidität und Mortalität der HCM können bedingt sein durch eine diastolische Funktionsstörung, Ischämie, Obstruktion des linksventrikulären Ausflusstrakts, Mitralklappenregurgitation, supraventrikuläre oder ventrikuläre Arrhythmie oder – seltener – durch Progression zu „ausgebrannter“ Erkrankung oder plötzlichem Herztod. Defibrillatoren stellen ein wirksames Mittel zur Abwendung des plötzlichen Herztods dar, sind aber nicht ohne Komplikationen, was die Bedeutung der Identifizierung von Risikopatienten unterstreicht. Stärken und Schwächen der Prognose auf Grundlage leicht verfügbarer klinischer Marker werden angesprochen und die Integration unterstützender Ansätze wie Genotypisierung, kardiovaskuläre Magnetresonanztomographie und Fraktionierungsanalyse in bestehende Leitlinien zur Prognose wird diskutiert. Schließlich wird eine Aktualisierung zur pharmakologischen und interventionellen Behandlung der HCM einschließlich des Aufkommens krankheitsmodifizierender Therapie gegeben.

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On behalf of all authors, the corresponding author states that there are no conflicts of interest.

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Authors and Affiliations

  1. Inherited Cardiovascular Disease Group, University College London, The Heart Hospital, 16–18 Westmoreland Street, W1G 8PH, London, UK

    Srijita Sen-Chowdhry M.A., M.B.B.S., M.D. (Cantab.), FESC, María Teresa Tomé Esteban Ph.D., FESC &  William J. McKenna M.D., D.Sc., FESC

  2. Department of Epidemiology, Imperial College, St Mary’s Campus, Norfolk Place, W2 1NY, London, UK

    Srijita Sen-Chowdhry M.A., M.B.B.S., M.D. (Cantab.), FESC

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  1. Srijita Sen-Chowdhry M.A., M.B.B.S., M.D. (Cantab.), FESC
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  2. María Teresa Tomé Esteban Ph.D., FESC
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  3. William J. McKenna M.D., D.Sc., FESC
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Correspondence to William J. McKenna M.D., D.Sc., FESC.

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Sen-Chowdhry, S., Tomé Esteban, M. & McKenna, W. Insights and challenges in hypertrophic cardiomyopathy, 2012. Herzschr Elektrophys 23, 174–185 (2012). https://doi.org/10.1007/s00399-012-0227-5

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