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Marfan syndrome and sudden death within a family - aetiologic, molecular and diagnostic issues at autopsy

Rena Hirani1, Barbara Koszyca, Roger W Byard

  • 1Discipline of Pathology, Level 3 Medical School North Building, University of Adelaide, Frome Road, Adelaide 5005, South Australia, Australia.

Journal of Forensic and Legal Medicine
|April 22, 2008
PubMed

Insights

Sudden deaths in cousins with Marfan syndrome highlight its variable presentation. Autopsy revealed characteristic features, emphasizing diagnostic challenges and genetic counseling needs for affected families.

Area of Science:

  • Genetics and Molecular Biology
  • Pathology
  • Cardiovascular Medicine

Background:

  • Marfan syndrome is a genetic disorder affecting connective tissue, with variable clinical manifestations across ocular, cardiovascular, and musculoskeletal systems.
  • Mutations in fibrillin-1 and TGF-betaR2 genes are implicated in Marfan syndrome.
  • Phenotypic variability complicates diagnosis and prognosis prediction.

Observation:

  • Presents two cases of sudden, unexpected deaths in male cousins, both diagnosed with Marfan syndrome post-mortem.
  • Case 1: A 36-year-old male with arachnodactyly, high arched palate, and fatal aortic dissection.
  • Case 2: A 34-year-old male with arachnodactyly, high arched palate, pes cavus, and dysplastic mitral valve.

Findings:

  • Autopsy findings in both cases revealed distinct morphological features consistent with Marfan syndrome.
  • The cases underscore the potential for severe cardiovascular complications, including aortic dissection and mitral valve dysplasia.
  • Genetic and etiological theories are discussed in the context of these findings.

Implications:

  • These cases highlight the critical importance of post-mortem examination in diagnosing Marfan syndrome, especially in sudden deaths.
  • The significant variability in phenotype and genotype presents challenges for clinical prognosis and genetic counseling.
  • Family follow-up and counseling are crucial, though diagnostic uncertainties may increase family anxiety.

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