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Cerebral arteriovenous malformation in three successive generations

P D Larsen1, L C Hellbusch, D M Lefkowitz

  • 1Department of Neurology, Creighton University Medical Center, Omaha, Nebraska 68131, USA.

Pediatric Neurology
|July 1, 1997
PubMed

Insights

A family exhibited cerebral arteriovenous malformations across three generations, indicating an autosomal dominant inheritance pattern. The study discusses screening relatives for this condition.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

  • Cerebral arteriovenous malformations (cAVMs) are complex vascular anomalies.
  • Familial occurrence of cAVMs suggests a genetic component.

Purpose of the Study:

  • To investigate the inheritance pattern of cerebral arteriovenous malformations within a kindred.
  • To evaluate the implications of familial cAVMs for genetic counseling and screening.

Main Methods:

  • Pedigree analysis was conducted for a family with multiple affected individuals.
  • Clinical data and family history were reviewed.

Main Results:

  • A distinct pattern of affected individuals across three generations was observed.
  • Autosomal dominant inheritance is strongly suggested by the family's presentation.

Conclusions:

  • Cerebral arteriovenous malformations can exhibit autosomal dominant inheritance.
  • Screening of asymptomatic individuals with a positive family history is warranted.

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