This case report suggests that partial merosin deficiency due to LAMA2 mutations may be associated with dilated cardiomyopathy and ventricular arrhythmias, representing a potential novel phenotype.
May warrant cardiac surveillance in partial laminin-α2 deficiency; leaves open whether this association is causal or generalizable.
Patients with a partial reduction of merosin due to mutations in the laminin-α2 chain gene usually present with a mild form of congenital muscular dystrophy or a limb-girdle-like muscular dystrophy. To our knowledge, cardiac impairment has never been reported in such patients. A longitudinal study of a patient with partial laminin-α2 deficiency secondary to mutations in the LAMA2 gene revealed dilated cardiomyopathy with ventricular arrhythmias. Is this a chance association or a novel phenotype?
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Carboni et al. (2011) studied this question.
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