Spontaneous Isolated Superior Mesenteric Artery Dissection: Genetic Heterogeneity of Chromosome Locus 5q13-14 in 2 Male Familial Cases

Spontaneous isolated superior mesenteric artery dissection (SISMAD) is a rare disease that occurs sporadically. In this report, we describe 2 cases of SISMAD involving an uncle and his nephew. Genetic studies revealed the presence of heterogeneity of a chromosome locus at 5q13-14 in 3 family members (the 2 patients and the nephew's mother), an area previously found to be linked to familial ascending aortic aneurysms and dissections.