Key result
A 14-year-old boy with Fukuyama congenital muscular dystrophy experienced rapidly accelerating cardiomyopathy requiring heart transplantation within 1 year, highlighting the need for frequent screening.
Case Report (n=1)
Patients with Fukuyama congenital muscular dystrophy require frequent cardiac screening as cardiomyopathic progression can be rapid and outpace skeletal myopathy.
May support intensified screening in Fukuyama dystrophy; hypothesis-generating and should not yet change practice.
Fukuyama congenital muscular dystrophy weakens both skeletal and cardiac muscles, but the rate of cardiomyopathic progression can accelerate faster than that of skeletal muscles. A 14-year-old boy with Fukuyama congenital muscular dystrophy presented with mild skeletal myopathy but severe cardiomyopathy requiring heart transplantation within 1 year of declining heart function. These patients need frequent screening regardless of musculoskeletal symptoms.
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Pick et al. (2017) conducted a case report in Fukuyama congenital muscular dystrophy (n=1). Fukuyama congenital muscular dystrophy was evaluated on Cardiomyopathic progression requiring heart transplantation. A 14-year-old boy with Fukuyama congenital muscular dystrophy experienced rapidly accelerating cardiomyopathy requiring heart transplantation within 1 year, highlighting the need for frequent screening.
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