Sudden Death Caused by Bilateral Diaphragmatic Eventration in Myotonic Dystrophy Type 1

Area of Science:

• Neurology
• Genetics
• Pathology

Background:

• Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder.
• It results from a CTG tri-nucleotide expansion in the DMPK gene's 3'-UTR.
• Clinical features include muscle weakness, myotonia, and systemic complications, often leading to premature death from respiratory or cardiac issues.

Purpose of the Study:

• To report a case of sudden death in a 48-year-old woman with DM1.
• To highlight the risk of fatal respiratory failure in DM1 patients.
• To document a rare autopsy finding of bilateral diaphragmatic eventration in DM1.

Main Methods:

• Case report of a 48-year-old female with a clinical DM1 diagnosis.
• Postmortem examination including gross and histologic findings.
• Molecular testing during medicolegal autopsy to confirm DM1 diagnosis.

Main Results:

• The patient experienced sudden death, with autopsy revealing severe bilateral diaphragmatic eventration.
• Restrictive lung pathology indicated severe respiratory compromise.
• DM1 diagnosis was confirmed postmortem, with bilateral diaphragmatic eventration noted as a rare finding.

Conclusions:

• Fatal respiratory failure is an underappreciated risk in DM1, especially without regular cardiopulmonary monitoring.
• Bilateral diaphragmatic eventration is a rare autopsy finding in adults with DM1.
• This case underscores the importance of comprehensive neuromuscular evaluation and surveillance in DM1 management.