CLINICAL CHARACTERISTICS: Generalized arterial calcification of infancy (GACI) is characterized by prenatal or infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular and neurovascular findings (which can include hypertension, cardiomegaly, heart failure, and stroke)....
✦ The floor
Discussion
Signed responses from readers of the wire.
No actionable change for audiology practice; GACI is a rare genetic disorder with no established primary auditory phenotype, and any hearing involvement would be incidental to systemic vascular disease managed by other specialists.
Awareness of rare vascular genetic conditions like GACI is marginally relevant to audiologists only insofar as undiagnosed vascular pathology could contribute to unexplained sensorineural hearing loss in paediatric patients.
- 01GACI is caused by mutations in ENPP1 or ABCC6 genes, leading to widespread arterial calcification from infancy.
- 02The condition primarily affects cardiovascular structures; hearing loss is not a defining or well-documented feature.
- 03Vascular calcification near cochlear blood supply could theoretically impair auditory function, but evidence is lacking.
- 04GeneReviews entries summarise genetic, diagnostic, and management information for clinicians — this is a reference/review article.
- 05Audiologists encountering children with unexplained sensorineural hearing loss and known vascular disease may consider rare genetic aetiologies.
- PMID
- 25392903
- Journal
- GeneReviews (NCBI Bookshelf)
- Publication type
- review
- Evidence level
- 5
- Population
- Infants and children with Generalized Arterial Calcification of Infancy (GACI), a rare genetic disorder
- Intervention
- Narrative review and clinical synopsis of GACI genetics, diagnosis, and management
Primary outcomes
Clinical characterisation of GACI phenotype; Genetic aetiology and inheritance pattern; Surveillance and management recommendations