Author: Sana Ullah, MB ChB, FRCA - Children’s Health, Dallas
A two-week-old male neonate is admitted to the cardiac intensive care unit for further evaluation of cyanosis. Physical exam reveals an imperforate anus and dysmorphic facial features including pre-auricular skin tags and vertical colobomas of both eyes. Chromosomal analysis demonstrates a duplication of the long arm of chromosome 22. What is the MOST likely congenital heart defect in this patient?
The clinical features in this patient are consistent with cat-eye syndrome (CES), also known as Schmid-Fraccaro syndrome. This rare genetic disorder affects approximately 1 in 150,000 people and is caused by duplication or triplication of the long arm of chromosome 22. Although there is significant phenotypic variation, the syndrome usually consists of craniofacial anomalies including facial dysmorphism, ear tags, vertical colobomas leading to the appearance of cat’s eyes, and imperforate anus.
Congenital cardiac defects are found in approximately 50% of patients with CES. There are several small case series in the literature describing the association of total pulmonary venous connection (TAPVC) with CES. In an analysis of thirteen published cases in 1973 by Freedom and colleagues, congenital heart disease was present in five patients with TAPVC in three out of these five cases. Tetralogy of Fallot and interrupted aortic arch are examples of conotruncal defects that are commonly associated with DiGeorge syndrome resulting from a deletion of chromosome 22q.11.2. Interrupted aortic arch also does not present with cyanosis. Therefore, options A and C are incorrect.
Many patients with CES will require anesthesia for non-cardiac or cardiac procedures during the neonatal period. Due to craniofacial abnormalities, these patients should be considered at risk for a difficult airway management.
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