Dilated cardiomyopathy and the dystrophin gene: an illustrated review.

Abstract

Cardiomyopathy is often found in patients with Duchenne and Becker muscular dystrophy, which are X linked muscle diseases caused by mutations in the dystrophin gene. Dystrophin defects present in many different ways and cases of mild Becker muscular dystrophy have been described in which cardiomyopathy was severe. Female carriers of Duchenne muscular dystrophy can develop symptomatic skeletal myopathy alone or combined with dilated cardiomyopathy. They can also develop dilated cardiomyopathy alone. X linked dilated cardiomyopathy has been found in association with dystrophin defects. The relation between the molecular defects and the cardiac phenotypes has not yet been established. New mutations in the dystrophin gene are common and such mutations cause one third of the cases with Duchenne and Becker muscular dystrophy. This means that sporadic cases of cardiomyopathy caused by dystrophin defects are likely. This paper reports such a case in a boy of 14 who died of dilated cardiomyopathy. Before the cardiac investigation, which was performed one month before he died, he had not complained of muscular weakness. He had minor signs of limb girdle myopathy and slightly increased concentrations of serum creatine kinase. He was found to have an unusual deletion in the dystrophin gene.

Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies

“…There appears to be a progression through a stage of cardiac hypertrophy to dilated cardiomyopathy [13]. In BMD cardiac involvement follows a similar pattern, often with later onset, although patients may present at an early age with significant cardiomyopathy despite minimal skeletal muscle manifestations [9].…”

“…It is the product of the dystrophin gene located on Xp21. The known spectrum of X-linked dystrophinopathy now includes not only the wellcharacterised skeletal myopathies of DMD and BMD, but also isolated cardiac involvement linked to Xp21 (X-linked cardiomyopathy) [8,9], a syndrome with muscle cramps and myoglobinuria [10] and presentations with cognitive dysfunction [11].…”

Na+–H+ exchanger inhibitor prevents early death in hereditary cardiomyopathy

“…The hereditary CMP of Syrian hamsters in general, and in particular the UM-X7.1 strain, is a hereditary autosomal recessive disease having a 100% incidence in the offspring (Bkaily et al 1994) and could be caused, in part, by a mutation of the ␦-sarcoglycan (␦-SG) gene (Sakamoto et al 1997) and dystrophin (Oldfors et al 1994;Kawada et al 2005;Tsuda et al 2014). The hereditary CMP of the UMX-7.1 hamster strain strongly resembles the disease in humans at the morphological and functional levels, in the response to treatments with drugs, in the concomitant presence of muscular dystrophy, and in the progress of cardiac disease following 3 phases ( Fig.…”

Na+–H+exchanger and proton channel in heart failure associated with Becker and Duchenne muscular dystrophies

“…Such hereditary diseases are associated with mutations in the dystrophin gene (Oldfors et al 1994;Toyo-oka et al 2002). These mutations are present in different ways and situations of mild BMD (Oldfors et al 1994). The latter is a slow-developing form of DMD and is associated with severe cardiomyopathy (Oldfors et al 1994).…”

“…These mutations are present in different ways and situations of mild BMD (Oldfors et al 1994). The latter is a slow-developing form of DMD and is associated with severe cardiomyopathy (Oldfors et al 1994). Female carriers of DMD can develop symptomatic skeletal myopathy alone or combined with dilated cardiomyopathy (DCM) (Oldfors et al 1994).…”