Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review Article Swipe
Raffaele Falsaperla
,
Valentina Giacchi
,
Maria Giovanna Aguglia
,
Janette Mailo
,
Maria Grazia Longo
,
Federica Natacci
,
Martino Ruggieri
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1055/s-0041-1731036
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1055/s-0041-1731036
Congenital heart disease (CHD), the most common major congenital anomaly, is associated with a genetic syndrome (chromosomal anomalies, genomic disorders, or monogenic disease) in 30% of patients. The aim of this systematic review was to evaluate if, in the neonatal setting, clinical clues that orient the diagnostic path can be identified. For this purpose, we revised the most frequent dysmorphic features described in newborns with CHD, comparing those associated with monogenic syndromes (MSG) with the ones reported in newborns with genomic disorders. For this systematic review according to PRISMA statement, we used PubMed, Medline, Google Scholar, Scopus database, and search terms related to CHD and syndrome. We found a wide range of dysmorphisms (ocular region, ears, mouth, and/or palate and phalangeal anomalies) detected in more than half of MSGs were found to be associated with CHDs, but those anomalies are also described in genomic rearrangements syndromes with equal prevalence. These findings confirmed that etiological diagnosis in newborns is challenging, and only the prompt and expert recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests. However, in general practice, it is crucial to recognize clues that can suggest the presence of a genetic syndrome, and neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate.
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Metadata
- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.1055/s-0041-1731036
- OA Status
- green
- Cited By
- 5
- References
- 17
- Related Works
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- OpenAlex ID
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All OpenAlex metadata
Raw OpenAlex JSON
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https://doi.org/10.1055/s-0041-1731036Digital Object Identifier
- Title
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Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature ReviewWork title
- Type
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reviewOpenAlex work type
- Language
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enPrimary language
- Publication year
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2021Year of publication
- Publication date
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2021-07-10Full publication date if available
- Authors
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Raffaele Falsaperla, Valentina Giacchi, Maria Giovanna Aguglia, Janette Mailo, Maria Grazia Longo, Federica Natacci, Martino RuggieriList of authors in order
- Landing page
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https://doi.org/10.1055/s-0041-1731036Publisher landing page
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YesWhether a free full text is available
- OA status
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greenOpen access status per OpenAlex
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https://www.ncbi.nlm.nih.gov/pmc/articles/8416220Direct OA link when available
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Medicine, Pediatrics, Intensive care medicineTop concepts (fields/topics) attached by OpenAlex
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5Total citation count in OpenAlex
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2024: 3, 2023: 1, 2022: 1Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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| publication_date | 2021-07-10 |
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