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Comparative Study
. 2012 Jul 24;14(1):48.
doi: 10.1186/1532-429X-14-48.

Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study

Mieke C E Hermans  1 , Catharina G Faber, Sebastiaan C A M Bekkers, Christine E M de Die-Smulders, Monique M Gerrits, Ingemar S J Merkies, Gabriel Snoep, Yigal M Pinto, Simon Schalla
Affiliations
Comparative Study

Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study

Mieke C E Hermans et al. J Cardiovasc Magn Reson. .

Abstract

Background: Myotonic dystrophy type 1 (MD1) is a neuromuscular disorder with potential involvement of the heart and increased risk of sudden death. Considering the importance of cardiomyopathy as a predictor of prognosis, we aimed to systematically evaluate and describe structural and functional cardiac alterations in patients with MD1.

Methods: Eighty MD1 patients underwent physical examination, electrocardiography (ECG), echocardiography and cardiovascular magnetic resonance (CMR). Blood samples were taken for determination of NT-proBNP plasma levels and CTG repeat length.

Results: Functional and structural abnormalities were detected in 35 patients (44%). Left ventricular systolic dysfunction was found in 20 cases, left ventricular dilatation in 7 patients, and left ventricular hypertrophy in 6 patients. Myocardial fibrosis was seen in 10 patients (12.5%). In general, patients had low left ventricular mass indexes. Right ventricular involvement was uncommon and only seen together with left ventricular abnormalities. Functional or structural cardiac involvement was associated with age (p = 0.04), male gender (p < 0.001) and abnormal ECG (p < 0.001). Disease duration, CTG repeat length, severity of neuromuscular symptoms and NT-proBNP level did not predict the presence of myocardial abnormalities.

Conclusions: CMR can be useful to detect early structural and functional myocardial abnormalities in patients with MD1. Myocardial involvement is strongly associated with conduction abnormalities, but a normal ECG does not exclude myocardial alterations. These findings lend support to the hypothesis that MD1 patients have a complex cardiac phenotype, including both myocardial and conduction system alteration.

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Figures

Figure 1
Figure 1
Ventricular dysfunction in myotonic dystrophy type 1 by CMR. Cine images in four-chamber long-axis view in diastole and systole of a patient with impaired systolic left ventricular function (ejection fraction 38%): septal and apical hypokinesia (arrows).
Figure 2
Figure 2
Myocardial fibrosis in myotonic dystrophy type 1 by CMR. Late gadolinium enhancement (LGE) images in short axis (A, B and C) and 4-chamber long axis views (D) of 4 patients with myotonic dystrophy type 1. Between arrows are regions of increased signal intensity, indicating focal fibrosis, visible as mid-myocardial enhancement to epicardial enhancement with endocardial sparing.
Figure 3
Figure 3
Graphic reproduction of cardiac evaluation in myotonic dystrophy patients showing ECG and CMR findings. The majority of patients with ECG abnormalities had functional or structural cardiac abnormalities. However, a substantial number of patients with normal ECG also showed myocardial alterations. NT-proBNP levels did not help to distinguish between patients with and without impaired myocardial functioning (presented as median (range)).
See this image and copyright information in PMC

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