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Case Reports
. 2013 Jan 17:2013:bcr2012007574.
doi: 10.1136/bcr-2012-007574.

Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy

Hugh P Sims-Williams  1 , Helen J Nye, Paul R Walker
Affiliations
Case Reports

Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy

Hugh P Sims-Williams et al. BMJ Case Rep. .

Abstract

Mutations in the lamin A/C (LMNA) gene cause significant disruption to skeletal and myocardial muscle, as well as nervous tissue. We describe a case illustrating varied manifestations of a LMNA mutation and the implications for diagnosis and management. We turn to several family studies that describe considerable phenotypic variation arising from LMNA mutations. The discussion focuses on educating the reader in recognition of potential presentations of LMNA mutations.

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Figures

Figure 1
Figure 1
Patient's ECG showing ventricular tachyarrythmia with self-termination and subsequent pacemaker activity.
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References

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