A family with diabetes and heart failure.
The case of a middle-aged woman with early-onset diabetes mellitus, hypertrophic cardiomyopathy, premature sensorineural hearing loss and neuropsychiatric symptoms is described. The patient's family history revealed the classical pattern of maternally inherited diabetes and deafness (MIDD) and isolation of mitochondrial DNA from peripheral blood leucocytes showed an A3243G transition in the gene encoding for the tRNA(Leu(UUR)). Thus, the suspected diagnosis of a mitochondrial disorder was confirmed. Cardiac involvement turned out to be the dominating clinical feature in the patient. She died of cardiogenic shock and multiple organ failure within 1 year of diagnosis. Three out of nine affected family members had hypertrophic cardiomyopathy.
Hematology Clinic, University Hospital Zurich, Zurich, Switzerland. bernhard.gerber@usz.ch
Bernhard
B
Gerber
Christine
C
Manser
Peter
P
Wiesli
Christoph A
CA
Meier
D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics*; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D003704:Dementia / Q000175:diagnosis / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis / Q000235:genetics*; D004452:Echocardiography; D017809:Fatal Outcome; D005260:Female; D005817:Genetic Counseling; D006333:Heart Failure / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics*; D009102:Multiple Organ Failure / Q000235:genetics; D010375:Pedigree; D012356:RNA, Transfer, Leu / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D012770:Shock, Cardiogenic / Q000235:genetics
D012356:RNA, Transfer, Leu