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Familial aorto-cervicocephalic arterial dissections and congenitally bicuspid aortic valve
1Department of Neurologic Surgery, Mayo Clinic, Rochester, Minn 55905, USA.
Insights
Familial arterial dissections and bicuspid aortic valve (BAV) suggest a shared developmental defect. This may stem from a neural crest cell abnormality affecting both the aorta and its branches.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Developmental Biology
Background:
- Spontaneous cervicocephalic arterial dissections are often linked to underlying arteriopathies, though their precise nature remains unclear.
- Congenitally bicuspid aortic valve (BAV) is a common congenital heart defect.
- The study investigates the co-occurrence of arterial dissections and BAV within families.
Observation:
- Three families exhibited a pattern of spontaneous arterial dissections (internal carotid artery, vertebral artery, aortic dissection) alongside BAV.
- Affected individuals included a range of ages, with dissections occurring in the 40s and 50s, and BAV diagnosed in younger relatives.
- Detailed family histories revealed multiple instances of arterial dissections and BAV within each lineage.
Findings:
- The familial clustering of spontaneous arterial dissections and BAV strongly suggests a shared genetic or developmental etiology.
- The observed pattern points towards a common underlying developmental defect impacting the cardiovascular system.
- This suggests a potential hereditary component in the development of these conditions.
Implications:
- A neural crest cell developmental defect is proposed as the unifying abnormality.
- This defect may affect both the aortic valvular cusps and the arterial media of the aorta and its branches.
- Understanding this link could lead to improved diagnostic and therapeutic strategies for affected individuals and families.
Background:
A primary arteriopathy is often implicated in the etiology of spontaneous cervicocephalic arterial dissections, but its exact nature usually remains unknown. We describe the familial occurrence of spontaneous arterial dissections and congenitally bicuspid aortic valve (BAV) and propose a common developmental defect in these families.
Summary Of Report:
In the first family, a 63-year-old man suffered an extracranial internal carotid artery (ICA) dissection, and his 43-year-old cousin with BAV suffered an intracranial vertebral artery (VA) dissection. Two other family members had pathologically proven BAV. In the second family, a 31-year-old woman suffered bilateral extracranial ICA and VA dissections. Her father, at age 46, suffered an aortic dissection associated with cystic medial necrosis and BAV. Her paternal uncle died from an aortic dissection at age 59. In the third family, a 39-year-old woman suffered extracranial ICA and VA dissections, and her brother died at age 48 from an aortic dissection associated with a BAV.
Conclusions:
The familial occurrence of spontaneous arterial dissections and BAV suggests a common developmental defect. The aortic valvular cusps and the arterial media of the aortic arch and its branches are derived from neural crest cells, suggesting that a neural crest defect may be the underlying abnormality in these families.
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