CVIR Endovascular

Table 2 Genotype to Phenotype

From: Imaging to intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia

Variant	Mutation	Epistaxis	GIB	Pulmonary AVM	CNS AVM	Hepatic AVM
HHT-1	ENG	++	+	++	++	+
HHT-2	ACVRL1	+	++	+	+	++
JP/HHT	SMAD4	+	++	+	+	+

GIB Gastrointestinal bleeding, CNS Central nervous system, HHT Hereditary hemorrhagic telangiectasia. ENG Endoglin, ACVRL1 Activin A type-II-receptor-like kinase 1, JPS Juvenile Polyposis Syndrome factor 2

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