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Arrhythmogenic right ventricular cardiomyopathy

Contribution of cardiac magnetic resonance imaging to the diagnosis

Arrhythmogene rechtsventrikuläre Kardiomyopathie

Beitrag der kardialen Magnetresonanztomographie bei der Diagnosestellung

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Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease of the heart muscle, mostly due to genetically defective desmosomal proteins. The disease is characterized by fibrofatty replacement leading to ventricular arrhythmias and sudden death in young people and athletes. There is no single clinical gold standard examination for making a definitive diagnosis. The diagnosis is based on multiple parameters, including: (1) global or regional dysfunction and structural alteration of the right ventricle demonstrated on imaging; (2) tissue characterization by endomyocardial biopsy; (3) repolarization and (4) depolarization electrocardiographic abnormalities; (5) arrhythmias; and (6) family history. The so-called phenocopies must be included in the differential diagnosis, always taking into account that there is no single criterion sufficiently specific for a reliable diagnosis of ARVC. Contrast-enhanced cardiac magnetic resonance imaging (CE-CMR) is not yet included in the revised diagnostic criteria, although this is the only imaging modality able to depict fibrosis as late gadolinium enhancement (LGE) deposition. This review analyzes the role of CMR imaging in the diagnostic work-up of ARVC. The lack of specific diagnostic criteria contributes to the under-recognition of the nonclassic variants of ARVC, i.e., dominant or isolated left ventricular disease.

Zusammenfassung

Die arrhythmogene rechtsventrikuläre Kardiomyopathie (ARVC) ist eine erbliche Herzmuskelerkrankung, bei der – zumeist aufgrund genetisch fehlerhafter desmosomaler Proteine – Herzmuskelzellen durch Fett- und Bindegewebszellen ersetzt werden, was zu ventrikulären Arrhythmien und plötzlichem Herztod bei jungen Menschen und Sportlern führen kann. Es gibt nicht die einzig richtige „Goldstandarduntersuchung“ für die endgültige Diagnosestellung. Letztere setzt sich letztlich aus vielen Parametern zusammen: 1. generelle oder umschriebene Funktionsstörung und Strukturveränderung des rechten Ventrikels (RV), die sich mit bildgebenden Verfahren darstellen lässt, 2. Gewebecharakterisierung durch Endomyokardbiopsie (EMB), 3. Repolarisations- und 4. Depolarisationsstörungen im EKG, 5. Arrhythmien und 6. Familienanamnese. Die Differenzialdiagnose mit sog. „Phänokopien“ ist zwingend, wobei berücksichtigt werden muss, dass es kein „einziges Goldstandardkriterium“ gibt, das spezifisch genug ist, um die Diagnose ARVC zuverlässig zu stellen. Die kontrastverstärkte kardiale Magnetresonanztomographie (CE-CMR) wird bei den revidierten Diagnosekriterien noch nicht berücksichtigt, auch wenn dies das einzige bildgebende Verfahren ist, bei dem sich eine Fibrose als Areal mit Late-Gadolinium-Enhancement (LGE) darstellt. In der vorliegenden Übersicht wird die Rolle der CMR-Bildgebung bei der Diagnosestellung einer ARVC dargestellt. Der Mangel an spezifischen diagnostischen Kriterien trägt dazu bei, dass die nichtklassischen Varianten der ARVC, d. h. dominante oder isolierte linksventrikuläre Formen, unterdiagnostiziert werden.

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Acknowledgments

Supported by TRANSAC, University of Padua Strategic Grant CPDA133979/13, Padua, Italy; Registry for Cardio-cerebro-vascular Pathology, Veneto Region, Venice, Italy; Veneto Region Target Research, Venice; PRIN Ministry of Education, University and Research 2010BWY8E9_004, Rome, Italy; Associazione La Stella di Lorenzo ONLUS, Rome, Italy.

Compliance with ethical guidelines

Conflict of interest. M. Perazzolo Marra, S. Rizzo, B. Bauce, M. De Lazzari, K. Pilichou, D. Corrado, G. Thiene, S. Iliceto, and C. Basso state that there are no conflicts of interest. The accompanying manuscript does not include studies on humans or animals.

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  1. Cardiovascular Pathology Unit, Department of Cardiac, Thoracic and Vascular Sciences, University of Padua Medical School, Via Giustiniani 2, 35121, Padova, Italy

    M. Perazzolo Marra, S. Rizzo, B. Bauce, M. De Lazzari, K. Pilichou, D. Corrado, G. Thiene, S. Iliceto & C. Basso MD, PhD

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  1. M. Perazzolo Marra
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  7. G. Thiene
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  9. C. Basso MD, PhD
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Correspondence to C. Basso MD, PhD.

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Perazzolo Marra, M., Rizzo, S., Bauce, B. et al. Arrhythmogenic right ventricular cardiomyopathy. Herz 40, 600–606 (2015). https://doi.org/10.1007/s00059-015-4228-0

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