The cardiac natural history of patients with GSD III and its relationship with genetic abnormalities is not well known. We performed a longitudinal study in order to describe the natural history of heart involvement in patients with glycogen GSD III.
47 patients were included our study (16 male/31 female). Mean age was 25.7 years ±15.4.
All patients were in sinus rhythm expect one patient (atrial fibrillation). 9 patients/ 47 disclosed abnormal repolarization. Electrical left ventricular hypertrophy was found in 22 patients /47.
Heart failure was found in 10 patients/47 and 2 patients/47 disclosed a left ventricular dysfunction. Hypertrophic cardiomyopathy was found in 23 patients /47; and 4 patients/47 disclosed obstructive hypertrophic cardiomyopathy. Patients with hypertrophic cardiomyopathy depicted 2 codon-stops (p 0.03).
In conclusion, hypertrophic cardiomyopathy is frequent in patients with GSD III.