title: Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.
abstract: Plectin mutations have been reported in epidermolysis bullosa simplex with muscular dystrophy. We report the first case of left ventricular non-compaction in an 18-year-old male with epidermolysis bullosa simplex with muscular dystrophy. The patient was diagnosed with epidermolysis bullosa simplex after blistering was noted at birth. Motor function difficulties were first recognized at age 11, however the patient was lost to follow up. He was re-evaluated at age 17 and demonstrated significant ptosis, ophthalmoparesis, and pharyngeal muscle weakness. He had predominant proximal muscle weakness with the inability to raise arms against gravity. He was ambulatory for short distances but lost the ability to rise from the floor at 14 years. He was subsequently diagnosed with epidermyolysis bullosa simplex with muscular dystrophy and a PLEC1 mutation. Screening cardiovascular imaging revealed a diagnosis of isolated left ventricular non-compaction. This case highlights the potential for delayed onset muscular dystrophy in patients with epidermolysis bullosa simplex. Furthermore, this case also underscores the importance of long term, routine cardiac evaluation, including imaging and electrophysiologic evaluation, in patients with epidermolysis bullosa simplex with muscular dystrophy as the cardiac phenotype appears to parallel the variable severity and age of onset that characterize the neuromuscular phenotype.
authors.affiliation: Cincinnati Children's Hospital Medical Center Heart Institute, Cincinnati, OH, USA. Electronic address: chet.villa@cchmc.org.
authors.forename: Chet R
authors.initials: CR
authors.lastname: Villa
authors.affiliation: Cincinnati Children's Hospital Medical Center Heart Institute, Cincinnati, OH, USA.
authors.forename: Thomas D
authors.initials: TD
authors.lastname: Ryan
authors.affiliation: Cincinnati Children's Hospital Medical Center Division of Neurology, Cincinnati, OH, USA.
authors.forename: James J
authors.initials: JJ
authors.lastname: Collins
authors.affiliation: Cincinnati Children's Hospital Medical Center Heart Institute, Cincinnati, OH, USA.
authors.forename: Michael D
authors.initials: MD
authors.lastname: Taylor
authors.affiliation: Cincinnati Children's Hospital Medical Center Division of Dermatology, Cincinnati, OH, USA.
authors.forename: Anne W
authors.initials: AW
authors.lastname: Lucky
authors.affiliation: Cincinnati Children's Hospital Medical Center Heart Institute, Cincinnati, OH, USA.
authors.forename: John L
authors.initials: JL
authors.lastname: Jefferies
mesh_terms: D000293:Adolescent; D009202:Cardiomyopathies / Q000209:etiology*; D016110:Epidermolysis Bullosa Simplex / Q000150:complications / Q000235:genetics / Q000473:pathology; D006352:Heart Ventricles / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D051190:Plectin / Q000235:genetics*
chemical_list: C495332:PLEC protein, human; D051190:Plectin
keywords: Epidermolysis bullosa with muscular dystrophy; Left ventricular non-compaction cardiomyopathy; Plectin