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
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Related Content
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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.
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.