Abstract
Intracranial arterial aneurysm (IAA) is an important cause of hemorrhagic stroke in children and presents a unique diagnostic challenge for the clinician. Exhibiting failure of arterial wall integrity decades before the general population, this early and aggressive arteriopathy suggests intrinsic susceptibility to disease. This narrative review summarizes the literature on IAA genetics, highlighting monogenetic causes, known risk alleles from population-based analyses, and opportunities to expand the literature on childhood disease. Clinical findings that may lead to suspicion for genetic arteriopathy are discussed—highlighting connective tissue disorder phenotypes, family history of arteriopathy, and radiographic characteristics unique to childhood IAA. The common clinical genetic diagnostics—targeted gene panels, whole exome sequencing, whole genome sequencing, and advanced testing modalities—are detailed with attention to their use in IAA in children and adults. Given the ever-expanding palette of genetic testing platforms, the busy clinician may find test selection daunting and access to genetic professionals rare. To help with this selection, we provide a pragmatic guide to test selection and analysis of genetic testing in childhood IAA.