Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review

Raffaele Falsaperla; Valentina Giacchi; Maria Giovanna Aguglia; Janette Mailo; Maria Grazia Longo; Federica Natacci; Martino Ruggieri

doi:10.1055/s-0041-1731036

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2021; 10(03): 173-193
DOI: 10.1055/s-0041-1731036

Review Article

Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review

Raffaele Falsaperla

¹Neonatal Intensive Care Unit, San Marco Hospital, Policlinico “G. Rodolico - San Marco” University Hospital, Catania, Italy

,

Valentina Giacchi

¹Neonatal Intensive Care Unit, San Marco Hospital, Policlinico “G. Rodolico - San Marco” University Hospital, Catania, Italy

,

Maria Giovanna Aguglia

¹Neonatal Intensive Care Unit, San Marco Hospital, Policlinico “G. Rodolico - San Marco” University Hospital, Catania, Italy

,

Janette Mailo

²Neonatal Neurology and Perinatal Stroke Stollery, Children's Hospital, Glenrose Rehabilitation Hospital, University of Alberta, Alberta, Canada

,

Maria Grazia Longo

¹Neonatal Intensive Care Unit, San Marco Hospital, Policlinico “G. Rodolico - San Marco” University Hospital, Catania, Italy

,

Federica Natacci

³Genetic Unit, Genetics Department, University of Milan, IRCCS Ca' Granda – Policlinico Hospital, Milan, Italy

,

Martino Ruggieri

⁴Department of Clinical and Experimental Medicine, Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

› Author Affiliations

Abstract

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.

Keywords

monogenic syndromes - congenital heart disease - dysmorphic anomalies - newborns

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References

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