Key result
Homozygous LMNA variant identifies first reported case of autosomal-recessive dilated cardiomyopathy.
Why the study?
Most LMNA disorders are autosomal-dominant, and laminopathies involving cardiomyopathies have previously all been reported as autosomal dominant.
Case Report (n=1)
This case report identifies the first known instance of an autosomal-recessive LMNA variant causing primary dilated cardiomyopathy, expanding the genetic spectrum and challenging the classic paradigm that cardiomyopathy-associated laminopathies are exclusively autosomal dominant.
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.
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Sterner et al. (2025) conducted a case report in Dilated cardiomyopathy (n=1). Homozygous LMNA c.991C>T (p.Arg331Trp) variant was evaluated. A homozygous LMNA c.991C>T variant was identified as the cause of primary dilated cardiomyopathy in a 39-year-old woman, representing the first reported case of an autosomal-recessive laminopathy.
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