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Klin Padiatr 2015; 227(04): 225-231
DOI: 10.1055/s-0034-1398689
Original Article
© Georg Thieme Verlag KG Stuttgart · New York

Cardiomyopathy in Duchenne Muscular Dystrophy: Current Value of Clinical, Electrophysiological and Imaging Findings in Children and Teenagers

Kardiomyopathie bei Duchenne Muskeldystrophie: Wertigkeit von klinischen Symptomen, Elektrophysiologie und Bildgebung bei Kindern und Jugendlichen
S. Dittrich
1   Pediatric Cardiology, University Hospital, Erlangen, Germany
,
M. Tuerk
2   Neurology, University Hospital, Erlangen, Germany
,
G. Haaker
3   Neuropathology, University Hospital, Erlangen, Germany
,
V. Greim
1   Pediatric Cardiology, University Hospital, Erlangen, Germany
,
A. Buchholz
4   Clinical Trials Unit, University of Freiburg, Freiburg, Germany
,
B. Burkhardt
5   Pediatric Cardiology, University Medical Center, Freiburg, Germany
,
A. Fujak
6   Orthopedics, University Hospital, Erlangen, Germany
,
R. Trollmann
7   Pediatrics, University Hospital, Erlangen, Germany
,
A. Schmid
8   Radiology, University Hospital, Erlangen, Germany
,
R. Schroeder
2   Neurology, University Hospital, Erlangen, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
09 June 2015 (online)

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Abstract

Background: Progressive cardiomyopathy (CMP) is one main cause of death in DMD. This cross-sectional assessment of different cardiac diagnostic procedures focusses on preterm diagnosis of cardiac dysfunction.

Patients: 39 male DMD patients aged 6–20 years were included. 6 patients were still ambulatory, 21 patients received corticosteroid therapy.

Methods: All patients were investigated by ECG, Holter ECG and heart rate variability (HRV), B-type natriuretic peptide (BNP), echocardiography (TTE), tissue Doppler Imaging (TD) and magnetic resonance imaging (MRI) with Late Gadolinium enhancement (LE) and segmental wall motion analysis (WMA).

Results: 56% of the patients showed repolarization abnormalities and 76% altered HRV. Subnormal ventricular function was found in 25% by TTE and in 34% by MRI. TD differed from normal controls only in the apical septum. In MRI 89% of the patients showed different distribution and intensity of LE and WM restriction. The extent of LE was less in patients after steroid treatment (p<0.05).

Discussion: MRI with segmental LE- and WM-analysis seems to be superior to TTE and TD in exploring regional distribution and severity of damage of the myocardium. ECG and HRV abnormalities are common in DMD-patients but not tightly predictive for segmental and global left ventricular dysfunction. Targeted treatment of CMP in DMD needs prospective evaluation.

Conclusion: A timely cardiac MRI is the most sensitive investigation for the identification of early myocardial changes in DMD which is a prerequisite for early interventions and therapeutic strategies.

Zusammenfassung

Hintergrund: Die progressive Kardiomyopathie (CMP) bleibt eine Haupttodesursache bei DMD. Diese Querschnittsstudie analysiert verschiedene kardialer Diagnoseverfahren im Hinblick auf das frühzeitige Erkennen einer kardialen Dysfunktion.

Patienten: 39 männliche Patienten im Alter von 6 bis 20 Jahren wurden untersucht. 6 Patienten waren noch gehfähig, 21 Patienten waren mit Kortikosteroiden behandelt.

Methoden: Alle Patienten erhielten eine Untersuchung mit EKG, Holter EKG und Herzfrequenzvariabilitäts-Analyse (HRV), BNP-Bestimmung, Echokardiografie (TTE) mit Gewebe-Doppler (TD) sowie ein MRI mit Kontrastmittelgabe (LE) und segmentaler Wandbewegungsanalyse.

Ergebnisse: 56% der Patienten zeigten Erregungsrückbildungsstörungen im EKG, 76% eine verminderte HRV. Die linksventrikuläre Funktion war bei 25% der TTE und bei 34% der MRI vermindert. Die TD-Untersuchungen zeigten nur am apikalen Septum signifikante Abweichungen zur Kontrollgruppe. Im MRI wiesen 89% der Herzen mit unterschiedlicher segmentaler Beteiligung und Intensität altersunabhängig LE und Wandbewegungsstörungen auf. LE war in Patienten nach Steroidtherapie vermindert (p<0,05).

Diskussion: MRI mit LE und Wandbewegungsanalyse scheint der TTE mit TD bei segmentaler Lokalisierung einer frühen Myokardschädigung überlegen zu sein. EKG-Veränderungen und eine eingeschränkte Herzfrequenzvariabilität sind häufig bei DMD, jedoch nicht spezifisch für die Vorhersage von segmentaler und globaler linksventrikulärer Dysfunktion. Die Wirksamkeit einer gezielten Medikation bei CMP in DMD muss prospektiv untersucht werden.

Schlussfolgerungen: Eine frühzeitige MRT ist die sensitivste Untersuchung für frühe myokardiale Veränderungen bei DMD. Das rechtzeitige Erkennen einer myokardialen Schädigung ist Voraussetzung für eine frühe Intervention und die Planung therapeutischer Strategien.

Key words

Duchenne - cardiomyopathy - ECG - echocardiography - MRI

Schlüsselwörter

Duchenne Muskeldystrophie - Kardiomyopathie - EKG - Echokardiografie - MRT
 

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