Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation

Highlights

• EBS-MD can be associated with cardiac abnormalities.

• We report left ventricular non-compaction in a patient with EBS-MD.

• Cardiac abnormalities in patients with EBS-MD are highly variable.

• We propose serial cardiac screening should be considered in EBS-MD.

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.

Introduction

Plectin is a large, 466 kD, linker protein involved in cytoskeletal organization which is expressed in a variety of tissues including epithelia, skeletal muscle and myocardium [1]. Plectin mutations lead to epidermolysis bullosa simplex (EBS) subtypes associated with muscular dystrophy (EBS-MD) [2], congenital myasthenic syndrome [3], and pyloric atresia [3].

EBS-MD is an autosomal recessive disorder characterized by skin fragility and delayed onset muscular dystrophy, although there is significant heterogeneity in the clinical phenotype. The dermatologic manifestations vary significantly in severity and include neonatal skin fragility, nail abnormalities and mucosal manifestations ranging from no mucosal involvement to severe involvement with associated tracheal or urethral tract complications [4]. The muscular dystrophy is similarly variable in age of onset and severity and is characterized by proximal or distal muscle weakness which presents from infancy [5] to the fourth decade of life [6]. Three cases with myocardial involvement have been reported: a 33-year-old woman [7] with an ejection fraction of 46% (normal 55–70%) and atrial fibrillation; a 25-year-old with mild left ventricular hypertrophy [8]; a 40-year-old [8] with dilated cardiomyopathy. Here, we describe a case of left ventricular non-compaction cardiomyopathy in an 18-year-old male with EBS-MD due to a homozygous nonsense mutation in PLEC1.