NT5E mutation in sisters who underwent aortic valve replacements for aortic stenosis.

Tetsuro Uchida, Atsushi Yamashita, Ai Ishizawa, Mitsuaki Sadahiro, Nobuyoshi Azuma, Tadashi Kaname

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Article in Interactive cardiovascular and thoracic surgery, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

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1 · What the graph read from it

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0 citing papers in PubMed, 3 citations in OpenAlex.

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5 · Who and what money

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6 authors at 3 institutions in 1 country.

Tetsuro UchidaDepartment of Cardiovascular, Thoracic and Paediatric Surgery, Faculty of Medicine, Yamagata University, Yamagata, Japan.ORCID 0000-0002-0892-2267

Atsushi YamashitaDepartment of Cardiovascular, Thoracic and Paediatric Surgery, Faculty of Medicine, Yamagata University, Yamagata, Japan.

Ai IshizawaDepartment of Cardiovascular, Thoracic and Paediatric Surgery, Faculty of Medicine, Yamagata University, Yamagata, Japan.

Mitsuaki SadahiroDepartment of Cardiovascular, Thoracic and Paediatric Surgery, Faculty of Medicine, Yamagata University, Yamagata, Japan.ORCID 0000-0002-0743-7817

Nobuyoshi AzumaDepartment of Vascular Surgery, Asahikawa Medical University, Asahikawa, Japan.

Tadashi KanameDepartment of Genome Medicine, National Centre for Child Health and Development, Tokyo, Japan.ORCID 0000-0003-0281-9610

Yamagata University · JPAsahikawa Medical University · JPNational Center For Child Health and Development · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations of the NT5E gene encoding the cluster of differentiation 73 (CD73) protein have been found in patients with characteristic calcification of joints and arteries (CALJA). CD73 plays a protective role against aortic valve calcification; therefore, its deletion results in aortic valve calcification. However, to date, there are no reports of a patient with CALJA with aortic stenosis. In this study, we describe 2 extremely rare cases of sisters with identical NT5E gene mutation patterns, both of whom developed late-onset severe aortic stenosis and limb ischaemia. Both patients underwent aortic valve replacement and bilateral distal arterial bypass surgeries successfully. They were genetically diagnosed with CALJA based on the NT5E mutation. Our report suggests that NT5E mutations should be considered in patients requiring aortic valve replacement for a calcified aortic valve and bypass surgery for specific calcified and occluded arteries.

Indexed as

Aortic Valve StenosisCalcinosisHeart Valve Prosthesis5'-NucleotidaseAortic ValveFemaleGPI-Linked ProteinsHumansMutation5'-NucleotidaseGPI-Linked ProteinsNT5E protein, humanAortic stenosisAortic valve replacementNT5E gene mutation

Identifiers

PMID34999808

DOI10.1093/icvts/ivab229

PMCPMC8932508

OpenAlexW3194172737

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.