Key result
A heterozygous LMNA mutation Arg190Pro was associated with idiopathic dilated cardiomyopathy characterized by conduction disorders, cardiac arrhythmias, and progressive heart failure.
Case Report (n=1)
This case report details the phenotypic manifestations of the novel LMNA mutation Arg190Pro, highlighting its association with dilated cardiomyopathy, arrhythmias, and conduction disorders.
A case of idiopathic dilated cardiomyopathy (DCM) that is likely to be associated with LMNA mutation Arg190Pro in a heterozygote is described. The features of DCM in the patient were conduction disorders, cardiac arrhythmias, progressive heart failure and minor musculoskeletal disturbances. We consider that the mutation Arg190Pro contributes to the formation of a weak nuclear lamina and diminishes muscle mechanical stability which is critical during cardiac contraction. The case report illustrates in detail the phenotypic manifestations of the novel LMNA mutation and difficulties in management related to it.
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Vaikhanskaya et al. (2014) conducted a case report in Idiopathic dilated cardiomyopathy (DCM) (n=1). LMNA mutation Arg190Pro was evaluated on Phenotypic manifestations (conduction disorders, cardiac arrhythmias, progressive heart failure, minor musculoskeletal disturbances). A heterozygous LMNA mutation Arg190Pro was associated with idiopathic dilated cardiomyopathy characterized by conduction disorders, cardiac arrhythmias, and progressive heart failure.
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