P403: Acute heart failure in a 6-year-old monozygotic twin with ENPP1 deficiency initially presenting with ARHR2
Abstract
ENPP1 deficiency, caused by biallelic variants in ENPP1, exhibits a clinical spectrum from generalized arterial calcification of infancy (GACI) to autosomal recessive hypophosphatemic rickets type 2 (ARHR2). GACI may also result from ABCC6 deficiency, though these patients do not develop rickets. GACI manifests as arterial calcification and/or luminal narrowing due to neointimal proliferation which may cause severe ischemia, a main contributor of mortality. GACI typically presents in infancy with a high mortality rate (50% in the first 6 months), whereas ARHR2 presents in toddler/childhood years with survival into adulthood.
Fields of Study & Subjects
Dermatological and Skeletal Disorders
Parathyroid Disorders and Treatments
Alkaline Phosphatase Research Studies
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103897–103897
- Publication date
- 1 January 2026
- Language
- EN