[Hypertrophic obstructive cardiomyopathy and lentiginosis (author's transl)].
Progressive cardiomyopathic lentiginosis was first described in 1972 by Polani and Moynahan. It is characterised by pigmentation of the skin (multiple symmetrical lentigines), hypertrophic obstructive cardiomyopathy and retarded growth. There may also be mental retardation. All characteristics of the syndrome were present in a 46-year-old woman. In addition there were also other features: lentigo developed at only 35 years of age, there was hypertelorism, thoracic kyphosis, and intermittent severe depression. Cyclic adenosine monophosphate in plasma was raised to 90.5 nmol/1.
D009202:Cardiomyopathies / Q000150:complications / Q000175:diagnosis*; D000242:Cyclic AMP / Q000097:blood; D003863:Depression / Q000150:complications; D004392:Dwarfism / Q000150:complications / Q000175:diagnosis; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis; D007738:Kyphosis / Q000150:complications; D007911:Lentigo / Q000150:complications / Q000175:diagnosis*; D008875:Middle Aged; D013577:Syndrome
D000242:Cyclic AMP
Hypertrophisch-obstruktive Kardiomyopathie und Lentiginosis.