Autosomal-Recessive LMNA Dilated Cardiomyopathy

Variants in the LMNA gene (which encodes intermediate filaments lamin A and lamin C) result in a variety of phenotypes that include overlapping features, such as progeroid syndromes, muscular dystrophies, peripheral neuropathies, lipodystrophies, and cardiac disease (including dilated cardiomyopathy and conduction disorders).

We describe a case of primary biventricular, nonischemic dilated cardiomyopathy and no myopathic symptoms with a homozygous LMNA c.991C>T (p.Arg331Trp) likely pathogenic variant. The patient, a 39-year-old woman, presented with symptoms of dilated cardiomyopathy and has had ablation, medical management, and a pacemaker placed because of arrythmias.

Most LMNA disorders are inherited in an autosomal-dominant fashion, with rare autosomal-recessive laminopathies mainly involving neuromuscular phenotypes. Laminopathies that have involved cardiomyopathies have all been reported to be autosomal dominant.

To our knowledge, this is the first reported case of an autosomal-recessive laminopathy with primary dilated cardiomyopathy.