The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy
Open accessPublished version of a preprint
Abstract
Background: Ischemic stroke in young adults can be caused by a variety of etiologies including the monogenic disorders. Visceral heterotaxy is a condition caused by abnormal left–right determinations during embryonic development. We aimed to determine the cause of a young ischemic stroke patient with visceral heterotaxy. Case presentation: We performed neurological, radiological, and genetic evaluations in a 17-year-old male patient presenting ischemic stroke and visceral heterotaxy to determine the underlying cause of this rare disease combination. Brain magnetic resonance imaging (MRI) showed evidence of embolic stroke, abdominal computed tomography (CT) showed visceral heterotaxy, and echocardiogram showed cardiac anomaly with right-to-left-shunt (RLS). Whole genome sequencing (WGS) revealed a heterozygous missense variant (NM_018055.5: c.1016 T > C, p.(Met339Val)) in the NODAL gene, which is essential to the determination of the left–right body axis. Conclusions: Our study highlights the importance of evaluating genetic etiology in young ischemic stroke and the need for stroke risk management in visceral heterotaxy patients with RLS. To the best of our knowledge, we report the first genetically-confirmed case of visceral heterotaxy with young embolic stroke reported to date.
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Metadata
- Authors
- Kaburagi, K., Hagiwara, Y., Tachikawa, K., Miyake, N., Akiyama, H., Kawai, Y., Omae, Y., Tokunaga, K., Yamano, Y., Shimizu, T., & Mitsuhashi, S.
- Affiliations
- St. Marianna University School of Medicine (JP)
- National Center for Global Health and Medicine (JP)
- Corresponding author
- Shimizu, Takahiro
- Mitsuhashi, Satomi
- ORCID
- Venue
- BMC Neurology
- Published
- 2024-04-11
- Volume
- 24
- Issue
- 1
- Pages
- 119-119
- ISSN
- 1471-2377 (ISSN-L)
- PMC
- PMC11007883
- OpenAlex
- W4394725262
- Cited by
- 1
- References
- 1
- Citations by year
- 2024: 1
- FWCI
- 0.30
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- BMC Neurology (publishedVersion, cc-by)
- Research Square (acceptedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Japan Agency for Medical Research and Development (22ek0109493h0003)
- Institute of Genetics
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Congenital Heart Disease Studies
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cardiovascular and Diving-Related Complications
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Keywords
- visceral heterotaxy, embolic stroke, ischemic stroke in young adults, right-to-left shunt, left-right axis determination, missense mutations, congenital heart anomaly
- MeSH terms
- Embolic Stroke, Adolescent, Humans, Magnetic Resonance Imaging, Male, Cardiovascular Abnormalities, Stroke, Heterotaxy Syndrome
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