ArticleOxford medical case reports2018
Atrial septal defect can be easily missed in chromosome 18q deletion syndrome.
Article in Oxford medical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant.Journal of pediatric genetics · 2021Article
- Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.Frontiers in immunology · 2021Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The frequency of 18q- is estimated to be approximately 1/40 000 live births and is more commonly associated with certain clinical features including short stature, intellectual disability and malformations of many major organ systems. Congenital cardiac abnormalities are present in 24-36% of cases and screening can prove difficult. A 28-year-old Caucasian female with a history of long arm chromosome 18q deletion was evaluated for persistent dyspnea and decreased activity level. Multiple hospitalizations failed to identify the etiology of her symptoms. Initial transthoracic echocardiogram failed to show any underlying cardiac etiology of her symptoms. Multiple recurrent hospitalizations with the same chief complaint. A transesophageal echo (TEE) showed large secundum atrial septal defect (ASD). Successful surgical closure of her large secundum ASD provided significant symptoms relief. The threshold of obtaining TEE should be low in patients with 18q- which permits early recognition and treatment of underlying structural heart disease.
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Registered trials
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