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. Author manuscript; available in PMC: 2019 May 6.
Published in final edited form as: Am J Med Genet A. 2018 Oct;176(10):2058–2069. doi: 10.1002/ajmg.a.40637

Table 5.

Cardiac abnormalities observed in our cohort.

Abnormality Percentage
Ventricular Septal Defect 23%
Tetralogy of Fallot 18%
 TOF with Pulmonary Atresia 5%
 TOF without Pulmonary Atresia 12%
Aortic Arch Anomalies 14%
 Right Aortic Arch 7%
 Vascular Ring 6%
  Double Aortic Arch 1%
 Left Aortic Arch with Aberrant Right Subclavian Artery 3%
Interrupted Aortic Arch 11%
Atrial Septal Defect 10%
Pulmonary Atresia 6%
Truncus Arteriosus 4%
Patent Ductus Arteriosus 6%
Bicuspid Aortic Valve 3%
Pulmonary Stenosis 2%
Other 1%

Note that individual features of well-described complex defects are not repeated, for example Tetralogy of Fallot does not create a second data point for ventricular septal defect. Values are expressed as percentages of the entire cohort with available data. Many individuals had multiple findings. Other findings include double outlet right ventricle, hypoplastic left heart and complete atrioventricular canal.