Key Takeaway
In this small cohort, cardiac magnetic resonance detected more abnormalities than conventional testing, including in patients with little skeletal-muscle involvement.
Evidence Summary
Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance
A small FKRP cohort comparing cardiovascular magnetic resonance with electrocardiography and echocardiography.
cohortCardiacMonitoringClinicians
Citation: Gaul C, Deschauer M, Tempelmann C, et al. Cardiac involvement in limb-girdle muscular dystrophy 2I: conventional cardiac diagnostic and cardiovascular magnetic resonance. J Neurol. 2006;253(10):1317-1322.
Main findings
- Nine patients from five families, all homozygous for FKRP c.826C>A, underwent electrocardiography, echocardiography, and cardiovascular magnetic resonance imaging (CMR).
- Cardiac involvement was detected by CMR in eight of nine patients, while only four showed abnormalities on conventional cardiac investigations.
- Two patients with muscle pain but no weakness or atrophy had cardiac abnormalities.
Practical relevance
- Provides historical evidence for discussing cardiac assessment even when skeletal symptoms are limited.
- Decisions about imaging and follow-up require clinical guidance beyond this study.
Limitations and cautions
- Nine patients from five families with one genotype cannot establish population prevalence.
- The study does not establish that a particular surveillance schedule improves outcomes.
- Findings were checked against the abstract; full methods and patient-level imaging data were not independently extracted.
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Paper Summary
Discordant Cardiomyopathy Phenotypes in Siblings With Homozygous FKRP c.1100T>C
Two-sibling case report describing different cardiac courses despite the same homozygous FKRP variant.
Guide
Clinical Features
FKRP-related disease can involve skeletal muscle, motor development, cardiac function, respiratory function, and in some severe congenital presentations, broader neurologic or structural findings. The pattern is variable, which is why the site treats phenotype as a spectrum.
Guide
Monitoring and Care
FKRP-related disease is usually managed through a multidisciplinary model. Monitoring is not only about neurology. Cardiology, pulmonology, sleep evaluation, rehabilitation, genetics, and practical family coordination all matter to safe long-term care.