Novel GDF2 Gene Mutation Associated with Pulmonary Arteriovenous Malformation

Karan K Topiwala; Smit D Patel; Amre M Nouh; Mark J Alberts

doi:10.1016/j.jstrokecerebrovasdis.2020.105301

Novel GDF2 Gene Mutation Associated with Pulmonary Arteriovenous Malformation

J Stroke Cerebrovasc Dis. 2020 Dec;29(12):105301. doi: 10.1016/j.jstrokecerebrovasdis.2020.105301. Epub 2020 Sep 15.

Authors

Karan K Topiwala¹, Smit D Patel², Amre M Nouh³, Mark J Alberts⁴

Affiliations

¹ University of Connecticut School of Medicine, 263 Farmington Ave, Farmington 06030, CT, USA. Electronic address: topiwala.karan@gmail.com.
² University of Connecticut School of Medicine, 263 Farmington Ave, Farmington 06030, CT, USA. Electronic address: drsmitpatel1988@gmail.com.
³ University of Connecticut School of Medicine, 263 Farmington Ave, Farmington 06030, CT, USA; Hartford Hospital, Hartford, CT, USA. Electronic address: Amre.Nouh@hhchealth.org.
⁴ University of Connecticut School of Medicine, 263 Farmington Ave, Farmington 06030, CT, USA; Hartford Hospital, Hartford, CT, USA. Electronic address: Mark.Alberts@hhchealth.org.

PMID: 32992168
DOI: 10.1016/j.jstrokecerebrovasdis.2020.105301

Abstract

Pulmonary arteriovenous malformations (PAVMs) are pathologic low-resistance conduits between a pulmonary artery and vein. Over 80% PAVMs occur in patients with hereditary hemorrhagic telangiectasia (HHT) and result from mutations in the transforming growth factor-beta signaling pathway. Mutations in the Growth Differentiation Factor 2 (GDF2) gene have recently been described to result in a vascular-anomaly syndrome with phenotypic overlap with HHT. We report a 43-year-old woman with a PAVM related ischemic stroke who was subsequently found to have a novel GDF2 gene mutation. The patient underwent coil-embolization of the PAVM with stable clinical and radiographic follow-up. It is important to diagnose PAVMs as they are an important cause of stroke-in-young; and can be treated definitively, reducing risk of recurrent stroke and migraine.

Keywords: GDF2; HHT; PAVM; Stroke.

Publication types

Case Reports

MeSH terms

Adult
Arteriovenous Malformations / complications
Arteriovenous Malformations / diagnostic imaging
Arteriovenous Malformations / genetics*
Arteriovenous Malformations / therapy
Brain Ischemia / etiology
Embolization, Therapeutic
Female
Genetic Predisposition to Disease
Growth Differentiation Factor 2 / genetics*
Humans
Mutation, Missense*
Phenotype
Pulmonary Artery / abnormalities*
Pulmonary Artery / diagnostic imaging
Pulmonary Veins / abnormalities*
Pulmonary Veins / diagnostic imaging
Stroke / etiology
Treatment Outcome

Substances

GDF2 protein, human
Growth Differentiation Factor 2