Key result
Genetic screening links a familial COL5A1 variant to postpartum quadruple cervicocephalic arterial dissection.
Why the study?
Pregnancy-associated cervicocephalic arterial dissection is rare and its pathophysiology remains poorly understood, with connective tissue diseases and genetic factors rarely identified in clinical cases.
Case Report (n=1)
No
This case report highlights a potential genetic predisposition, specifically a COL5A1 variant, in the pathogenesis of extensive pregnancy-associated cervicocephalic arterial dissection.
May link COL5A1 variant to postpartum dissection; hypothesis-generating and does not support screening yet.
Pregnancy-associated cervicocephalic arterial dissection is rare, and its pathophysiology remains poorly understood. Despite the hypothesized contribution to pathogenesis, connective tissue diseases and genetic factors are rarely identified in clinical cases. We describe a case of postpartum arterial dissection involving all four cervicocephalic arteries resulting in acute cerebral infarction. The patient underwent successful endovascular thrombectomy and angioplasty and recovered fully without sequelae. Genetic screening for connective tissue diseases identified a heterozygous missense COL5A1 variant with unknown clinical significance. Two genetically related family members later developed arterial abnormalities, and one of them tested positive for the same COL5A1 gene variant as our patient, while the other was scheduled for genetic testing. The extensive clinical presentation of our patient and the prevalence of arterial abnormalities in her family warrant further assessment of the association between the identified COL5A1 gene variant and the pathogenesis of arterial dissections.
No takes yet. Share an insight, caveat, or question.
Imamura et al. (2022) conducted a case report in Postpartum quadruple cervicocephalic arterial dissection (n=1). Heterozygous COL5A1 c.4943A>G variant was evaluated on Clinical recovery and genetic etiology identification. Genetic screening of a 37-year-old woman with postpartum quadruple cervicocephalic arterial dissection identified a heterozygous COL5A1 c.4943A>G variant of unknown significance, also present in a symptomatic family member.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: