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Skeletal myopathy in a family with lamin A/C cardiac disease.
Cardiovascular Diagnosis and Therapy 2016 October
BACKGROUND: The objective of this study was to evaluate patients with known hereditary cardiac conduction and myocardial disease (HCCMD) caused by a lamin A/C gene mutation for skeletal muscle involvement using magnetic resonance imaging (MRI) computed tomography (CT).
METHODS: Twenty-one patients with the diagnosis of HCCMD were available for study. Of these 21, 11 had MRI scans of the lower legs. The 11 that had an MRI were compared to a control group of 17 healthy controls. In ten patients in whom MRI was contraindicated, CT was used for lower leg imaging and the gastrocnemius muscle was compared to an unaffected muscle.
RESULTS: In patients with severe cardiac involvement defined as conduction system disease requiring pacemaker implant and CT instead of MRI, there was a significant difference in the composition of the unaffected muscle versus the gastrocnemius muscle, P<0.05. In the patients who underwent MRI, there was no statistical significance between the normal population and the study population. However, many study patients' images showed dramatic changes in the gastrocnemius muscle where there was definite replacement of muscle tissue by fibrofatty tissue.
CONCLUSIONS: Our results showed that patients with HCCMD can also present with skeletal muscle problems. The degree of skeletal muscle involvement is greater in HCCMD patients requiring implantable cardiac devices.
METHODS: Twenty-one patients with the diagnosis of HCCMD were available for study. Of these 21, 11 had MRI scans of the lower legs. The 11 that had an MRI were compared to a control group of 17 healthy controls. In ten patients in whom MRI was contraindicated, CT was used for lower leg imaging and the gastrocnemius muscle was compared to an unaffected muscle.
RESULTS: In patients with severe cardiac involvement defined as conduction system disease requiring pacemaker implant and CT instead of MRI, there was a significant difference in the composition of the unaffected muscle versus the gastrocnemius muscle, P<0.05. In the patients who underwent MRI, there was no statistical significance between the normal population and the study population. However, many study patients' images showed dramatic changes in the gastrocnemius muscle where there was definite replacement of muscle tissue by fibrofatty tissue.
CONCLUSIONS: Our results showed that patients with HCCMD can also present with skeletal muscle problems. The degree of skeletal muscle involvement is greater in HCCMD patients requiring implantable cardiac devices.
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