Autosomal-Recessive LMNA Dilated Cardiomyopathy.

BACKGROUND

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).

CASE SUMMARY: 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.

DISCUSSION: 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.

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