RESUMEN
PURPOSE: Myocardial dysfunction and dysrhythmias are inevitable consequences of Duchenne muscular dystrophy. We aimed to evaluate specific trends of electrocardiographic changes that reflect the progress of cardiomyopathy in patients with Duchenne muscular dystrophy. METHODS: Fifty electrocardiograms (ECGs) of 30 patients (ages 1 to 27 years) who had not been prescribed medications for heart failure treatment at the time of examination were retrospectively analyzed and compared with 116 ECGs of age-matched healthy 116 controls. Heart rate, leads with fragmented QRS (fQRS), corrected QT, Tpeak-to-Tend, and Tpeak-to-Tend/QT were analyzed. RESULTS: The patients with Duchenne muscular dystrophy failed to show a normal age-related decline in heart rate but showed an increasing trend in the prevalence of fQRS, corrected QT, corrected Tpeak-to-Tend, and Tpeak-to-Tend/QT over time. In the ≤10-year-old patient group, a significant difference was found only in the prevalence of fQRS between the patients and the controls. The prevalence of fQRS, heart rate, Tpeak-to-Tend/QT, and corrected Tpeak-to-Tend demonstrated significant differences between the patients and the controls in the middle age group (11 to 15 years old). All the indexes were statistically significantly different in the ≥16-year-old patient group. CONCLUSION: The prevalence of lead with fQRS representing regional wall motion abnormalities was higher in the young patients than in the young healthy controls, and this might be one of the first signs of myocardial change in the patients. Markers of depolarization and repolarization abnormalities were gradually prominent in the patients aged >10 years. Further studies are needed to confirm these findings.
RESUMEN
Leri-Weill dyschondrosteosis is characterized by SHOX deficiency, Madelung deformity, and mesomelic short stature. In addition, SHOX deficiency is associated with idiopathic short stature, Turner syndrome, and Langer mesomelic dysplasia. We report the first case of a Leri-Weill dyschondrosteosis patient confirmed by SHOX gene mutation analysis in Korea. The patient, who was a 7-year-old female, showed short stature. Her height and weight were 108.9 cm (<3rd percentile) and 19.7 kg (5th-10th percentile), respectively. Her arm span, height of trunk, leg length, and sitting length were 100.5 cm, 58 cm, 50.9 cm, and 62.5 cm, respectively. Her body proportion was 1.13:1. Extremities to trunk ratio was 2.61. Her hand radiograph showed Madelung deformity. And the growth hormone stimulation test showed a normal response. Furthermore, because of Madelung deformity with idiopathic short stature, she was suspected of SHOX deficiency. We performed SHOX gene mutation analysis and found a c.491G>A (p.W164X) mutation of the SHOX gene. Accordingly, this patient was diagnosed with Leri-Weill dyschondrosteosis. Recently, many mutations have been reported in the SHOX gene. However, to date, mutation analysis of the SHOX gene for Leri-Weill dyschondrosteosis has not been reported in Korea as yet. We report the first case of a Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of the SHOX gene.