Every day, pediatricians encounter cyanotic congenital heart disease (CHD) in children of all ages.

With advances in the diagnosis and treatment of CHD, corrective procedures are performed at younger ages, often before the fetal cardiopulmonary physiology matures to the normal postnatal state. As neonates are discharged from the hospital very soon after birth, fewer in-hospital opportunities are available to evaluate the child for cyanotic (and acyanotic) CHD. This magnifies the importance of each physical examination before discharge, and at follow-up office examinations. Several classifications have been developed to categorize cyanotic CHD. The four most commonly used classifications sort the defects by morphology and embryology, physiology, increased and decreased pulmonary blood flow, and the five T's (see later discussion). Although each classification has its merits (and devoted followers), no one system satisfies every physician's needs. From a pediatrician's perspective, physiology is a practical classification system because physiology is what is dealt with clinically. In many children, the most difficult question to answer may be, Is this child cyanotic? Cyanosis is caused by deoxygenated blood in the capillary vessels. Central cyanosis is observed in the mucous membranes and extremities. In general, to detect central cyanosis requires 4 g or more of reduced hemoglobin; this corresponds to a systemic oxygen saturation of 80% to 85% (depending on the patient's hemoglobin level). If the systemic oxygen saturation is 85% or more, detecting cyanosis with the eye oximeter is very difficult. Isolated transient peripheral cyanosis (acrocyanosis) can occur in children with normal cardiac anatomy and function; it is not of cardiac etiology. Causes for cyanosis in neonates and infants are numerous. The most common cause of neonatal cyanosis is pulmonary dysfunction secondary to infection, meconium aspiration, respiratory distress syndrome, persistent fetal circulation, and extrinsic compression (e.g., pneumothorax or diaphragmatic hernia). Other causes of neonatal cyanosis include: asphyxia, shock, anatomic abnormalities (e.g., choanal atresia, tracheomalacia, cysts), hypoventilation (e.g., central or muscular) methemoglobinemia, and polycythemia. At first glance, the title of this article seems to contradict itself. An obvious cardiac reason for cyanosis is decreased pulmonary blood flow (PBF), the subject of another article in this issue. So how can cyanosis occur in children who have increased PBF? First, a short review is included to standardize nomenclature for this article. In patients who have normal cardiac anatomy, the deoxygenated ( blue) blood is pumped to the lungs (pulmonary arteries), while the oxygenated (red) blood is pumped to the body (aorta). The effective pulmonary blood flow is the amount of deoxygenated blood that is pumped to the lungs; the lungs can work effectively, oxygenating this blood. With normal cardiac anatomy, all of the blood pumped to the lungs is effective (deoxygenated). If oxygenated blood is pumped to the lungs, such as in a child with left-to-right shunting through a patent ductus arteriosus (PDA), this extra blood pumped to the lungs is

already fully oxygenated, which is ineffective pulmonary blood flow; the lungs cannot further oxygenate this red blood. In children with cyanotic CHD, cyanosis occurs for two reasons: (1) blood flow (either blue or red blood) to the lungs is insufficient, or (2) a large percentage of the deoxygenated blood is pumped to the body (systemic circulation), and a large percentage of the oxygenated blood is pumped back to the lungs (together with some blue blood). The latter reason (2) is the subject of this article. The old standby classification system of the five T's deserves mentioning. Five common cardiac causes of cyanosis begin with the letter T: transposition of the great arteries, tetralogy of Fallot, truncus arteriosus, tricuspid atresia, and total anomalous pulmonary venous return. Although this list of five T's is not all encompassing (i.e., excluding pulmonary atresia and Ebstein anomaly), it is a helpful list to remember. To conserve space, several abbreviations are used in this article. Most of these abbreviations are used frequently in clinical practice: ASD, atrial septal defect; CHD, congenital heart disease; PBF, pulmonary blood flow; PDA, patent ductus arteriosus; PFO, patent foramen ovale; PGE 1, prostaglandin E1; PVR, pulmonary vascular resistance; TAPVR, total anomalous pulmonary venous return; TGA, transposition of the great arteries; VSD, ventricular septal defect.

Although one could divide cyanotic heart lesions by their physiology (i.e., right-to-left shunting, inadequate pulmonary blood flow (PBF), or common mixing lesions), many defects have multiple physiologic abnormalities. The classic mnemonic, the five T's of cyanotic congenital heart disease, continues to be useful: transposition of the great arteries (TGA), tetralogy of Fallot, truncus arteriosus ( truncus), total anomalous pulmonary venous connection (TAPVC), and tricuspid valve abnormalities (TVA). Each of the categories just listed requires some explanation. TGA as discussed in another article in this issue, includes dextro-TGA, levo-TGA, and malposition of the great arteries. Tetralogy of Fallot has considerable gradations and associated lesions to be described in this article; the authors use a strict anatomic definition rather than including double-outlet right ventricle, which is a relationship diagnosis.1Truncus arteriosus also has different forms that are elucidated in another article in this issue. The various forms of TAPVC are described by the location of connection to the pulmonary veins; because TAPVC is associated with increased PBF, it is discussed later. Finally, tricuspid valve abnormalities listed in past review articles as tricuspid atresia for the mnemonichas been changed to the listing indicated because this group includes tricuspid valve atresia, tricuspid valve stenosis or hypoplastic right ventricle syndrome, and also tricuspid valve displacement (i.e., Ebstein anomaly). Critical pulmonary stenosis has been placed in the group of tricuspid valve abnormalities.

Figures and tables from this article:

Figure 1. A, Heart specimen with tetralogy of Fallot, viewing from apex toward the base with the right ventricular free wall reflected cephalad. B, Line drawing of heart in (A) with component parts labeled. TV, tricuspid valve; RA, right atrium; RV, right ventricular; Ao, aorta; RVOT, RV outflow tract; and IVS, interventricular septum. Note the position of the conal septum; it is in close proximity to the conal free wall because the conal septum did not migrate normally (i.e., postero-inferiorlydirection of arrow in B). Such normal movement leads to expansion of the conus and completion of the interventricular septum. The four features of the tetrad of Fallot are as follows: (1) nonmigration of the conal septum causes the RV outflow tract obstruction; (2) there is a defect in the ventricular septum because the conal component is missing; (3) the aorta overrides the ventricular septum; and (4) the right ventricle is hypertrophied because it communicates with the aorta. Figure options

Figure 2. A, Long axis view shows the ascending aorta overriding the IVS as well as the VSD allowing free communication between the right ventricle and the aorta. B, Short axis view at the base of the heart shows the aorta and the bifurcating MPA to the side. Note the size comparison. The aorta is about twice the size of the MPA; they should be equal. IVS, interventricular septum; VSD, ventricular septal defect; LV, left ventricle; Ao, aorta; and MPA, main pulmonary artery. Figure options

Figure 3. Modified Blalock-Taussig shunt. Note the atretic main pulmonary artery (MPA) and the ligated ductus arteriosus (ductus). A Goretex tube graft (shunt) is sewn side-to-side between the innominate artery and the right pulmonary artery. Size of the tube graft (3.5 mm, 4.0 mm, or 5.0 mm) is chosen at surgery depending on patient

size and caliber of pulmonary artery. Some surgeons perform the shunt through a median sternotomy and others choose a lateral thoracotomy; cardiopulmonary bypass is usually not required. Figure options

Figure 4. Repair of tetralogy of Fallott. A, The anterior RV wall has been incised for exposure. The VSD is seen as well as part of the aortic valve on the left ventricular side of the VSD. Note the dilated ascending aorta, the small MPA, and the obstructing muscle in the RVOT under the pulmonary valve. B, The VSD has been closed with a Dacron patch. Pledgets were used to buttress the sutures carefully placed so as to avoid damage to the conduction system. The obstructing subpulmonary muscle has been incised and resected. For completion of the repair, two alternatives are depicted; use of an RV-to-PA conduit is not shown. C1: After a pulmonary valvotomy, the pulmonary annulus has been measured and found to be adequate.7 Patches have been placed to enlarge the MPA and LPA as well as the RV outflow tract area, but the pulmonary anulus and valve function are preserved. C2: The pulmonary anulus is judged too small,7 and a transanulur patch is placed from RV outflow tract to branch pulmonary artery. This relieves the obstruction but leaves the child with pulmonary regurgitation. VSD, ventricular septal defect; AAo, ascending aorta; RVOT, right ventricular outflow tract; MPA, main pulmonary artery; and LPA, left pulmonary artery. Figure options

Figure 5. Collateral vessels in tetralogy of Fallot. Both angiograms are anteroposterior views in a 21-year-old with tetraology of Fallot, pulmonary atresia, and tiny native pulmonary arteries to which shunts were placed when he was an infant. The shunts have thrombosed and his pulmonary circulation arises from collateral vessels. R, The right lung is supplied by a collateral vessel that emanates from the thoraco-acromial artery (not shown). L1, A large left-sided collateral vessel originating from the descending aorta supplies the postero-inferior segment of the left lung. L2, To interdict recurrent hemoptysis, the large left-sided collateral vessel seen in L1 was closed using Gianturco coils (white arrowheads) of varying sizes. A total of 12 coils was necessary to stop all flow. DAo, descending aorta; Collat, collateral vessel; and PAs, intraparenchymal pulmonary arteries. Figure options

Figure 6. Tricuspid atresia: physiology and common variations. Figure options

Figure 7. Hypoplastic RV syndrome/pulmonary atresia with intact ventricular septum. A, Four-chamber view in a neonate with PAcIVS shows a very small RV cavity with an excessively thick free-wall and septum. The LV appears to be normal. B,Color map in the neonate with PAcIVS shows highly turbulent regurgitation jet from the high pressure RV retrograde into the right atrium. C, A four-chamber view in a normal neonate demonstrates two ventricles of equal size with equal wall thickness; compare to A. D, Color map in a normal neonate shows antegrade (normal) red-coded, nonturbulent flow from each atrium to the appropriate ventricle; compare to B. E, Cineangiogram in a different neonate with PAcIVS shows filling of the coronary arteries (arrows) by injection of contrast into the obstructed RV cavity. F, Lateral view of the same patient as in E demonstrates a large RVCAC through which the true coronary arteries fill (with de-oxygenated blood). PAcIVS, pulmonary atresia with intact ventricular septum; RV, right ventricle; LV, left ventricle; RCA, right coronary artery; LAD, left anterior descending coronary artery; Cx, circumflex coronary artery; RV-CAC, right ventricle-to-coronary artery connection; and AAo, ascending aorta. F