Premature vascular aneurysms and fragility of cerebral arteries are commonly associated with type III collagen mutations and physical signs suggesting a generalized abnormality of connective tissue. Sometimes these traits are clearly genetically transmitted. Here we present seven examples of early cerebrovascular aneurysms or fragility including five examples of carotid cavernous sinus aneurysms. With one exception in which we suspect the mutation is too small to be detected, all of them had easily visible abnormalities of their type III collagen proteins. Further work in progress will eventually allow the characterization of their mutations at gene sequence level and will be followed by the ability to prevent transmission of the mutant genes in these families.

Summary:Congenital left ventricular diverticula are a rare cause of sudden cardiac death. We describe the first reported case of ventricular fibrillation in association with congenital diverticula of the heart. The diagnosis of left ventricular diverticula was made by cardiac catheterization and confirmed by magnetic resonance imaging. Treatment was initiated with anti-arrhythmic and anticoagulant drugs to prevent life-threatening arrhythmias and emboli.