Key Takeaway
Cardiac disease can be present even in oligosymptomatic FKRP cases, and CMR may reveal abnormalities missed by more routine evaluation alone.
Evidence Summary
Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance
Cardiac-focused FKRP paper showing that cardiovascular magnetic resonance can detect subclinical or mild cardiac disease beyond what routine testing alone may capture.
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 homozygous for the 826C>A FKRP mutation underwent conventional cardiac assessment plus cardiovascular magnetic resonance imaging.
- Cardiac involvement was detected by CMR in eight of nine patients, while only four showed abnormalities on conventional cardiac investigations.
- Two patients without muscle weakness or atrophy still had cardiac manifestations, highlighting that skeletal severity does not fully predict cardiac risk.
Practical relevance
- Supports a low threshold for cardiac surveillance in FKRP-related disease and helps explain why monitoring recommendations should not depend only on visible weakness.
- Useful for clinicians discussing why advanced cardiac imaging can matter when standard screening appears reassuring.
Limitations and cautions
- The cohort was very small and limited to patients homozygous for one common FKRP variant.
- The study focused on detection rather than long-term outcome prediction.
- Imaging availability and surveillance practice may differ across centers and eras.
Primary Sources
Direct links for verification
Primary indexed record for the paper summary on this page.
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Related Content
Related routes inside the site
Study Record
A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I)
Phase 3 corticosteroid study record evaluating deflazacort in adults with FKRP-related LGMD2I, ultimately terminated early.
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.
Paper Summary
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
Large modern natural-history cohort describing prevalence, genotype distribution, ventilatory support patterns, wheelchair use, and sex-associated differences in Norwegian LGMDR9.