/dilated cardiomyopathy 1J

dilated cardiomyopathy 1J

Rare Disease

MONDO:0011541

Also Known As

CMD1JEYA4 familial dilated cardiomyopathyautosomal dominant dilated cardiomyopathy with sensorineural hearing losscardiomyopathy, dilated, type 1Jdilated cardiomyopathy 1Jdilated cardiomyopathy type 1Jfamilial dilated cardiomyopathy caused by mutation in EYA4neurosensory deafness with dilated cardiomyopathyneurosensory hearing loss with dilated cardiomyopathysensorineural deafness with dilated cardiomyopathysensorineural hearing loss with dilated cardiomyopathycardiomyopathy, dilated, 1Jcardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant

Definition

An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.