FAMILIAL AORTO-CERVICOCEPHALIC ARTERIAL DISSECTIONS AND CONGENITALLY BICUSPID AORTIC-VALVE

Background A primary arteriopathy is often implicated in the etiology of spontaneous cervicocephalic arterial dissections, but its exact nat ure usually remains unknown. We describe the familial occurrence of sp ontaneous arterial dissections and congenitally bicuspid aortic valve (BAV) and propose a common developmental defect in these families. Sum mary of Report In the first family, a 63-year-old man suffered an extr acranial internal carotid artery (ICA) dissection, and his 43-year-old cousin with BAV suffered an intracranial vertebral artery (VA) dissec tion. Two other family members had pathologically proven BAV. In the s econd family, a 31-year-old woman suffered bilateral extracranial ICA and VA dissections. Her father, at age 46, suffered an aortic dissecti on associated with cystic medial necrosis and BAV. Her paternal uncle died from an aortic dissection at age 59. In the third family, a 39-ye ar-old woman suffered extracranial ICA and VA dissections, and her bro ther died at age 48 from an aortic dissection associated with a BAV. C onclusions The familial occurrence of spontaneous arterial dissections and BAV suggests a common developmental defect. The aortic valvular c usps and the arterial media of the aortic arch and its branches are de rived from neural crest cells, suggesting that a neural crest defect m ay be the underlying abnormality in these families.