[Table/Fig-2]:
TOF | ||||
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Components | VSD (usually perimembranous) | RVOT obstruction (at infundibular, pulmonary valvular or combination) | RVH | Overriding of aorta |
Incidence [13] | 1-3 cases per 1000 live births. Most common cyanotic CHD. Arises from single gene defect involving TBX1 gene (TBX1 gene encodes for a transcriptional factor integral to development of cardiac outflow tracts) |
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Association [13] | Right aortic arch (25%). Abnormal coronary arteries (5%) LAD arising from RCA with prepulmonic course being most common. Complete AVSD (2%) Persistent left SVC | |||
Syndromes | CHARGE syndrome Di George syndrome Shprintzen (velo-cardio-facial) syndrome | |||
Imaging features Plain | Boot shaped heart (cor en Sabot)= concave MPA segment with an upturned apex | Pulmonary oligemia | Thymic atrophy | Right aortic arch |
Imaging features specific | Echo defines all components of TOF MRI useful in post-surgical follow-up for RV volume assessment, pulmonary regurgitation quantification and to rule out residual VSD CT evaluation of pulmonary arteries, collaterals and coronary arteries * McGoon Ratio and Nakata Index are used for quantification of degree of PA hypoplasia |
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Management [13] | Palliative procedures: • Modified Blalock-Taussig shunt most preferred; placement of Gore-Tex interposition graft between subclavian artery and ipsilateral pulmonary artery Definitive surgery: Total ICR (intracardiac repair) VSD patch closure + widening of RVOT (infundibular tissue resection) + pulmonary valvotomy Note: Presence of coronary anomalies (esp. LAD from RCA with RVOT crossing) is a contraindication for primary repair. |