Genetic Testing and Neurodevelopmental Follow Up in Patients with Conotruncal Abnormalities

Congenital heart disease (CHD) is the most common birth defect and in most cases idiopathic. Genetic causes account for up to 35% of patients with CHD [1] are linked to increased operative risk and mortality [2]. One of the most common genetic abnormalities is a deletion in 22q11 [3], which affect 1 in 2,000-4,000 live births. This results in a wide spectrum of phenotypes including CHD, palatal abnormalities, immunodeficiency, hypoparathyroidism, dysmorphic facies, and developmental delay [4]. Conotruncal abnormalities are the most common cardiac defects and are found in 75% of patients with 22q11 deletions [3]. Deletions in 22q11 are found in 15% of patients with tetralogy of Fallot (TOF) [5], 50% with interrupted aortic arch (IAA), and 35% with truncus arteriosus (TA) [5]. Conoventricular ventricular septal defects (VSD) are associated with 22q11 deletion in roughly 5% of patients [5].

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Author: Colyer JH

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