Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A

Abstract

Introduction: Little is known about the frequency of cardiopulmonary failure in limb-girdle muscular dystrophy type 2A (calpainopathy) patients, although some studies have reported severe cardiomyopathy or respiratory failure.

Methods: To clarify the frequency of cardiopulmonary dysfunction in this patient population, we retrospectively reviewed the respiratory and cardiac function of 43 patients with calpainopathy.

Results: Nine of the 43 patients had forced vital capacity (FVC) < 80%, and 3 used noninvasive positive pressure ventilation. Mean FVC was significantly lower in patients who were nonambulant and had normal creatine kinase levels. Only 1 patient had a prolonged QRS complex duration. Echocardiography revealed that 1 patient had very mild left ventricular dysfunction.

Conclusions: These findings suggest that patients with calpainopathy may develop severe respiratory failure, but cardiac dysfunction is infrequent. Muscle Nerve 55: 465-469, 2017.

Keywords: calpainopathy; cardiomyopathy; limb-girdle muscular dystrophy 2A (LGMD2A); respiratory failure; respiratory function.

Figure 1

FVC was significantly correlated with disease duration (ρ = 0.657; P < 0.001). FVC of nonambulant patients (black diamonds) was markedly decreased in comparison with ambulant patients (white circles).

Figure 2

(a) QRS duration. Intraventricular conduction delay (i.e., QRS duration prolongation) was detected in only 1 patient. (b) Echocardiography revealed no clinically significant abnormal findings, and only 1 patient had an EF <50% (46%) (mean EF, 70.4 ± 9.0; median, 71.0; interquartile range, 65–71; range, 49–84).