Forensic Considerations in Cases of Myotonic Dystrophy at Autopsy.
Myotonic dystrophy (DM) is a chronic, slowly progressive, autosomal-dominant disorder with delayed muscle relaxation after contraction, distal skeletal muscle weakness, and atrophy. It has a reduced life expectancy due predominantly to respiratory failure or sudden cardiac death. The mortality rate is approximately 7.3 times greater than the general population with a mean age at death of 53 years. Degeneration of the cardiac conduction system causes atrioventricular block, arrhythmias, and ventricular failure. A case of sudden death in a 44-year-old woman with DM type 1 is reported to demonstrate an alternative lethal mechanism. At autopsy, there was extensive infiltration of skeletal muscles with adipose tissue. The heart was structurally normal. A deep venous thrombosis of the right calf was identified with a large saddle pulmonary thromboembolus and bilateral peripheral thromboemboli. DM1-related thrombosis had most likely occurred because of the decedent's impaired mobility, possible hypercoagulable state, and serum changes from muscle necrosis.
Discipline of Anatomy and Pathology, The University of Adelaide, Frome Rd, Adelaide, SA, 5005, Australia.
Kimberley J
KJ
Omond
Discipline of Anatomy and Pathology, The University of Adelaide, Frome Rd, Adelaide, SA, 5005, Australia.|Forensic Science SA, 21 Divett Place, Adelaide, SA, 5000, Australia.
Roger W
RW
Byard
D000328:Adult; D003645:Death, Sudden / Q000209:etiology*; D005260:Female; D049429:Forensic Pathology; D006801:Humans; D009223:Myotonic Dystrophy / Q000150:complications* / Q000473:pathology*; D011655:Pulmonary Embolism / Q000473:pathology; D020246:Venous Thrombosis / Q000473:pathology
arrhythmia; cardiovascular; forensic science; genetic; myotonic dystrophy; sudden death