Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies

Strach, Katharina; Sommer, Torsten; Christian, Grohé; Meyer, Carsten H.; Fischer, Dirk; Walter, Maggie C.; Vorgerd, Matthias; Reilich, Peter; Bär, Harald; Reimann, Jens; Reuner, Ulrike; Germing, Alfried; Goebel, Hans H.; Lochmüller, Hanns; Wintersperger, Bernd J.; Schröder, Rolf

doi:10.1016/j.nmd.2008.03.012

Cited by 39 publications

(39 citation statements)

References 43 publications

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“…Only one study systematically used CMR imaging to evaluate myocardial involvement in desminopathies. It revealed subtle focal hypertrophic myocardial changes in two desmin-related cardiomyopathy patients which were missed by echocardiography [7]. The reason may due to the high spatial resolution and clear delineation of endocardial borders of CMR, making it more sensitive for the detection of global and focal LV pathologies and subtle change of cardiac morphology than echocardiology that sometimes affected by limited acoustic windows.…”

Section: Discussionmentioning

confidence: 99%

Myocardial fibrosis in desmin-related hypertrophic cardiomyopathy

Zhang

Hong

et al. 2010

Journal of Cardiovascular Magnetic Resonance

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Desmin-related myopathy (DRM) is known to cause different types of cardiomyopathy. Late gadolinium enhancement cardiovascular magnetic resonance (CMR) has been shown to identify fibrosis in ischemic and non-ischemic cardiomyopathies. We present a rare case of desmin-related hypertrophic cardiomyopathy, CMR revealed fibrosis in the lateral wall of the left ventricle. CMR is superior to conventional echocardiography for the detection of myocardial fibrosis in desmin-related cardiomyopathy, which may be useful to detect early cardiac involvement and predict the patient prognosis.

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Section: Discussionmentioning

confidence: 99%

Myocardial fibrosis in desmin-related hypertrophic cardiomyopathy

Zhang

Hong

et al. 2010

Journal of Cardiovascular Magnetic Resonance

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“…ECG, cardiac ultrasound and cardiac MRI at age 54 years (Siemens MRI system) were performed as described previously [13].…”

Section: Methodsmentioning

confidence: 99%

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)

et al. 2011

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Here we describe a patient with limb girdle muscular dystrophy 1A (LGMD1A) due to a novel myotilin gene (MYOT) mutation with late onset, rapid progression, loss of ambulation and respiratory failure. The onset of weakness in proximal muscles and muscle MRI findings are clearly different from the pattern identified in myofibrillar myopathies (MFM) related to MYOT mutations. Moreover, there was very limited evidence of myofibrillar pathology in several muscle biopsies obtained during the disease course. We conclude, that MYOT mutations need to be considered as a rare cause of adult-onset, dominant LGMD without clear-cut MFM pathology.

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“…Because of the lack of any radiation exposure, muscle MRI has become an important diagnostic technique for the evaluation of children [3]. In addition, whole-body MR imaging protocols allow evaluation of tissues and organs beyond the striated muscle such as the parenchymatous organs in the abdomen, the oesophagus and heart, all of which can be affected in patients with inherited neuromuscular diseases [28, 29] (Fig. 3).…”

Section: Imaging Techniquesmentioning

confidence: 99%

Neuromuscular imaging in inherited muscle diseases

2010

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Driven by increasing numbers of newly identified genetic defects and new insights into the field of inherited muscle diseases, neuromuscular imaging in general and magnetic resonance imaging (MRI) in particular are increasingly being used to characterise the severity and pattern of muscle involvement. Although muscle biopsy is still the gold standard for the establishment of the definitive diagnosis, muscular imaging is an important diagnostic tool for the detection and quantification of dystrophic changes during the clinical workup of patients with hereditary muscle diseases. MRI is frequently used to describe muscle involvement patterns, which aids in narrowing of the differential diagnosis and distinguishing between dystrophic and non-dystrophic diseases. Recent work has demonstrated the usefulness of muscle imaging for the detection of specific congenital myopathies, mainly for the identification of the underlying genetic defect in core and centronuclear myopathies. Muscle imaging demonstrates characteristic patterns, which can be helpful for the differentiation of individual limb girdle muscular dystrophies. The aim of this review is to give a comprehensive overview of current methods and applications as well as future perspectives in the field of neuromuscular imaging in inherited muscle diseases. We also provide diagnostic algorithms that might guide us through the differential diagnosis in hereditary myopathies.

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Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies

Cited by 39 publications

References 43 publications

Myocardial fibrosis in desmin-related hypertrophic cardiomyopathy

Myocardial fibrosis in desmin-related hypertrophic cardiomyopathy

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)

Neuromuscular imaging in inherited muscle diseases

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