Key result
Two LGMD-2I patients developed severe heart failure requiring transplantation despite mild skeletal muscle pathology.
Why the study?
Heart involvement in LGMD-2I is common, but little is known about the underlying cardiac pathology.
Case Report (n=2)
In some patients with LGMD-2I, cardiac pathology can be severe and require transplantation despite mild skeletal muscle involvement.
Severe cardiac failure may predominate in LGMD-2I despite mild skeletal involvement; leaves open need for targeted cardiac surveillance studies.
Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of alpha-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about a underlying cardiac pathology. Herein we describe two patients with LGMD-2I (homozygous FKRP mutation c.826C>A, p.Leu276Ile) who developed severe congestive heart failure that required cardiac transplantation. The dystrophic pathology and impairment of alpha-dystroglycan glycosylation were severe in the heart but mild in skeletal muscle, underscoring the lack of correlation between cardiac and skeletal muscle involvement in some LGMD-2I patients.
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Margeta et al. (2009) conducted a case report in Limb-girdle muscular dystrophy type 2I (LGMD-2I) (n=2). Homozygous FKRP mutation c.826C>A, p.Leu276Ile was evaluated on Cardiac and skeletal muscle pathology. Two patients with LGMD-2I developed severe congestive heart failure requiring transplantation, with severe dystrophic pathology in the heart but mild in skeletal muscle.
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