Dilated cardiomyopathy 1J
Dilated cardiomyopathy 1J
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.
Also known as cardiomyopathy, dilated, type 1J, CMD1J, dilated cardiomyopathy 1J, dilated cardiomyopathy type 1J, EYA4 familial dilated cardiomyopathy, familial dilated cardiomyopathy caused by mutation in EYA4, neurosensory deafness with dilated cardiomyopathy, neurosensory hearing loss with dilated cardiomyopathy, sensorineural deafness with dilated cardiomyopathy, sensorineural hearing loss with dilated cardiomyopathy — per MONDO