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P403: Acute heart failure in a 6-year-old monozygotic twin with ENPP1 deficiency initially presenting with ARHR2

Year: 2026

Type: conference-abstract

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.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2026.103897

Authors: Holly Babcock, Rachel Gafni, Thomas Burklow, Jamie Fraser, Peter Chau, Carlos Ferreira

Institutions: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Dental and Craniofacial Research, National Institutes of Health Clinical Center, Children's National

Language: English

Topic: Dermatological and Skeletal Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200

OpenAlex ID: W7133929209

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