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Die isolierte Noncompaction-Kardiomyopathie unter besonderer Berücksichtigung ihrer rhythmologischen Komplikationen

Isolated noncompaction cardiomyopathy with special emphasis on arrhythmia complications

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Zusammenfassung

Die isolierte Noncompaction Kardiomyopathie (NCCM) ist eine seltene, genetisch determinierte Herzmuskelerkrankung, bei der der Remodellingprozess des linksventrikulären (LV) Myokards während der Embryonalzeit gestört ist, sodass in den betroffenen Abschnitten der LV-Wand eine schmale kompakte und eine dickere nicht kompakte Myokardschicht verbleiben. Die Genetik der NCCM ist dabei durch eine große Heterogenität charakterisiert. Die Diagnostik der NCCM kann durch Echokardiographie oder kardiale Magnetresonanztomographie erfolgen, wobei die Diagnosekriterien immer noch einer Diskussion unterliegen. Die betroffenen Patienten weisen ein breites Spektrum an Befunden und Symptomen auf: Arrhythmien, Herzinsuffizienz und kardioembolische Ereignisse. In der Risikostratifikation erwiesen sich neben der schweren LV-Funktionsstörung ein kompletter Linksschenkelblock und Vorhofflimmern als signifikante Risikomarker für schwere klinische Ereignisse. Die Therapie der NCCM erfolgt individuell und orientiert sich an den Symptomen und Untersuchungsbefunden. Sie umfasst eine medikamentöse Behandlung, im Bedarfsfall auch Ablationsbehandlungen oder gerätebasierte Therapien und bei schwerster Herzinsuffizienz eine Listung zur Herztransplantation. Bei der Betreuung von Patienten mit NCCM sollte neben der regelmäßigen kardiologischen Kontrolle auch ein Familienscreening mit Erhebung der Anamnese, körperlicher Untersuchung, EKG-Registrierung und Echokardiographie durchgeführt werden.

Abstract

Isolated noncompaction cardiomyopathy (NCCM) is a rare genetically determined myocardial disease caused by abnormal fetal development of the myocardium resulting in a thin compacted and a thicker noncompacted layer of the affected left ventricular (LV) wall. The genetic basis of NCCM is heterogenous. Diagnosis can be made using echocardiography or magnetic resonance imaging. The diagnostic criteria for NCCM are still under discussion. Afflicted patients may present with various symptoms caused by arrhythmias, heart failure and cardioembolic events. Severely reduced LV function as well as left bundle branch block and atrial fibrillation were shown to be linked to worse outcomes. Treatment in patients with NCCM should be targeted at individual symptoms and clinical findings. Therapy includes pharmacological treatment, and in individual cases ablation or device therapy, as well as consideration for heart transplantation in selected cases. Aside from regular clinical follow-up of patients with NCCM screening of first degree family members with assessment of medical history, physical examination, ECG recording, and echocardiography are recommended.

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  1. I. Medizinische Klinik, Klinikum Wolfsburg, Sauerbruchstraße 7, 38440, Wolfsburg, Deutschland

    B. Gerecke &  R. Engberding

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Correspondence to B. Gerecke.

Appendix

Appendix

Bisher teilnehmende Zentren des Deutschen NCCM-Registers (ALKK) (in alphabetischer Reihenfolge):

Ahlen, Kuklinski; Bayerisch Gmain, G. Haug; Berlin, D. Andresen, I. Siegel; Berlin, M. Beling; Berlin, A.C. Borges; Berlin, E. Fleck, J. H. Li; Braunschweig, A. Allers; Braunschweig, F. Gradaus; Coesfeld, S. Strick; Dortmund, H. Heuer, C. Starke; Essen, T. Budde; Esslingen, H. Wankmüller, M. Leschke, Euskirchen, R. Müller-Franzes; Frankfurt, T. Krug; Frankfurt, S. Sen, C. Kadel; Frankfurt, A. Schmermund; Greifswald, S. Felix, A. Hummel; Gunzenhausen Prismeier; Hameln, H.M. Grosse; Helmstedt, S. H. Nguyen; Hildesheim, J. Tebbenjohanns, K. Rühmkorf; Idar-Oberstein, H.H. Klein, W. Toepel; Ingolstadt, C. Pfafferott, A. Schöpflin; Karlsruhe, C. Schmitt, R. Wondraschek; Kempen, S. Frickel; Kiel, Frey; Köln, W. Fehske; Köln, J. Fritsch; Köln, – M. Horlitz, E. Gorr; Kreuznach Elsner; Lindenbrunn, Dettmer-Flügge; Ludwigsburg, I. Kruck; Ludwigsburg, C. Wolpert, D. Nothnagel; Lübeck, B. Schneider; Merzig, C. Rheinert Mühlheim, Dodos; Münster, G. Breithardt, S. Zellerhoff; Oldenburg, Knöchner; Rheine, S. Middendorf; Rotenburg Wümme, H. Andresen; Rostock, Placke; Rothenburg, J. Vogelpohl; Schönebeck, M. Groß, U. Nauke, M. Jüch; Steinheim, M. Ringbeck; Stuttgart, U. Sechtem, P. Ong; Ulm, M. Lieberknecht; Wien, C. Stöllberger; Wiesbaden, Immel; Wolfsburg, R. Engberding, B. Gerecke, Worms Wess.

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Gerecke, B., Engberding, R. Die isolierte Noncompaction-Kardiomyopathie unter besonderer Berücksichtigung ihrer rhythmologischen Komplikationen. Herzschr Elektrophys 23, 201–210 (2012). https://doi.org/10.1007/s00399-012-0226-6

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