DILATED CARDIOMYOPATHY TYPE 1A

LMNA GENE ANALYSIS

LMNA-related or type 1A dilated cardiomyopathy (DCM1A) is an autosomal dominant disorder characterized by left ventricular enlargement and reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias.  In some affected individuals elevated serum CK concentrations with or without a skeletal muscle myopathy similar to Emery-Dreifuss muscular dystrophy or limb-girdle muscular dystrophy is observed. The frequency of DCM1A in persons with idiopathic DCM ranges from 5% to 10% of familial DCM and 2% to 5% of non-familial DCM. Variants associated with Dilated Cardiomyopathy are found throughout the LMNA gene.  Partial gene deletions have also been reported (Gupta et al, Basic Res Cardiol, 2010, 105:365-377).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.