Chromosome 22q11 copy number variants and single ventricle CHD.
Tracy R GeoffrionDavid GoldbergT Blaine CrowleyJonathan M ChenDonna M McDonald-McGinnJ William GaynorPublished in: Cardiology in the young (2022)
CHD necessitating single ventricle reconstruction associated with chromosome 22q copy number variants is not common, but typically occurs as a variant of hypoplastic left heart syndrome with the usual cytogenetic microdeletion. The most common neonatal surgical intervention performed is the Norwood, where most of the mortality burden occurs. Associated anomalies and medical issues may cause additional morbidity after cardiac surgery, but survival is similar to infants with other types of single ventricle disease.
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