Total Anomalous Pulmonary Venous Connection

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19 Total Anomalous Pulmonary Venous Connection

I. CASE

A 29-year-old white woman, gravida 4, para 3, was referred at 31 weeks’ gestation by the high-risk obstetrician for abnormal triple screen with increased risk for trisomy 18 and an abnormal scan with mild disproportion at the ventricular level with increased right ventricular (RV) size. A small ventricular septal defect (VSD) was also suspected.

F. Neonatal management

1. Medical.

a. After birth, the baby will be assessed by the cardiac team. A low level of oxygenation (pulse oximeter <50% with low pressure and high oxygen ventilation) and progressive pulmonary hypertension and edema are the primary indications for intervention.

b. Management of the pulmonary hypertension includes assisted ventilation, although hyperventilation can also worsen the pulmonary edema and thus make oxygenation more difficult. For the most severe cases, an exit type of procedure with extracorporeal membrane oxygenation (ECMO) available for resuscitation may be necessary.

c. For total anomalous pulmonary venous connection (TAPVC) to the ductus venosus with obstruction, some have advocated the use of prostaglandin E1 (PGE1) infusion, but this is controversial.

d. Severely obstructed TAPVC requires emergency surgery because it cannot be medically managed.

2. Surgical.

a. Corrective repair consists of:

b. Nitric oxide might be helpful to treat associated persistent pulmonary hypertension, especially after surgery.

II. YOUR HANDY REFERENCE

A. Total anomalous pulmonary venous connection

1. Prevalence

a. TAPVC affects about 1 in 17,000 live births.

b. It is not a common antenatal diagnosis. In the fetal series of Allan and Sharland (1994), only three isolated cases of TAPVC were reported.

c. Given the subtle abnormalities in TAPVC, the diagnosis could be missed even during a targeted fetal exam.

d. TAPVC is often identified prenatally when it occurs in combination with significant cardiac defects such as coarctation, hypoplastic left heart syndrome, or heterotaxy syndrome.

e. The Baltimore–Washington Infant Study (BWIS), a population-based exploratory case-control study of cardiovascular malformations, identified 41 cases of TAPVC during the period 1981 to 1987. These constituted 1.5% of all cardiovascular malformations (N = 2659), with a regional prevalence of 6.8 per 100,000 live births.

2. Outcome.

a. The hospital mortality for the surgical repair of isolated TAPVC ranges from 2% to 20% in the presence of obstruction of the vein(s).

b. In the presence of significant intracardiac anomaly, the outcome of totally or partly anomalous venous connection is poor, particularly in right atrial (RA) isomerism, asplenia syndrome, or other forms of single-ventricle physiology.

c. Operative repair of anomalous pulmonary venous connections complicates the surgical treatment for single ventricle anatomy and physiology.

d. Long-term survival depends in part on the development of pulmonary vein stenosis. This is a lethal complication that occurs in a minority of patients.

3. Associated syndromes and extracardiac anomalies.

a. As an isolated cardiac abnormality, TAPVC is rarely associated with extracardiac malformations.

b. It could be found in the setting of a heterotaxy syndrome (more in RA isomerism than in LA isomerism).

c. Chromosomal abnormalities are rarely associated with isolated TAPVC, although one potentially diagnosable condition is cat eye syndrome, in which there is duplication of chromosome 22q11 in the critical cat eye region.

4. Differential diagnosis.

a. Ventricular disproportion with a larger right than left ventricle might suggest coarctation of the aorta or other form of left heart obstruction or foramen ovale obstruction. It can also occur in third-trimester intrauterine growth restriction.

b. One also must be cautious with largely RV dilation with a normal-sized LV. This can result from increased blood flow to the RV and relatively normal flow to the LV, such as in vein of Galen aneurysm.

5. Clues to fetal sonographic diagnosis.

a. Excluding the diagnosis is achieved by identifying at least one right-sided and one left-sided pulmonary vein connecting to the posterior wall of the LA on either side of the descending aorta (Figs. 19-2 to 19-6).

b. Clues to nonobstructed TAPVC.

c. Clues to obstructed TAPVC.

6. Cardiovascular profile score.

a. An abnormal score is not expected, but it should be monitored every month prenatally.

b. Because the RV has volume overload, its function should be followed by serial fetal echocardiography.

7. Immediate postnatal management for patients without prenatal diagnosis of TAPVC.

a. Check the pulse oximeter reading, which is acceptable above 95%. If it is lower, do the hyperoxia test.

b. The baby might present with severe cyanosis, poor systemic output, pulmonary hypertension, and pulmonary edema with normal or small cardiac size on chest x-ray.

c. In this scenario, the newborn should be transferred to the neonatal or pediatric (cardiac if available) intensive care unit (ICU) for further assessment and management or directly to the operating room if the surgical team is ready to place the infant on bypass. If obstructed TAPVC is strongly suspected before birth, one might even have the ECMO circuit available to transfer the baby in a more stable situation to the operating room.

d. Affected infants with less obstruction initially can later develop progressive obstruction to pulmonary venous flow or right-to-left atrial shunt through a restrictive ASD and can present in infancy with cyanosis and severely dilated RV. Pulmonary hypertension usually develops in this situation.

e. Occasionally, TAPVC is not associated with obstruction. Such patients can present with cyanosis, clinical signs of left-to-right shunt with congestive heart failure, and RA and RV volume overload. The TAPVC is usually repaired more electively in this situation.

8. Pathophysiology.

a. Types.

b. Physiology.

c. TAPVC with connection above the diaphragm is associated with an increase in right heart flow, resulting in discrepancy in arterial, ventricular, and great artery size, with a smaller left heart and relatively dilated right heart structures.

d. A TAPVC below the diaphragm might not increase the right heart size because a significant portion of the venous return from the IVC can drain in utero across the foramen ovale to the LA.

9. Follow-up.

a. Long-term outlook depends on the success of the surgical repair and whether or not the pulmonary veins themselves are normal.

b. In some situations, particularly TAPVC in RA isomerism, there may be more diffuse pulmonary venous hypoplasia and obstruction, which is fatal.

10. Risk of recurrence: The suggested recurrence risk is 2% to 3% in the absence of chromosomal abnormalities or positive family history.

image

Fig. 19-2 Total anomalous pulmonary venous connection (supracardiac).

Modified from Mullins CE, Mayer DC: Congenital Heart Disease: A Diagrammatic Atlas. New York, Liss, 1988.

image

Fig. 19-4 Total anomalous pulmonary venous connection to coronary sinus.

Modified from Mullins CE, Mayer DC: Congenital Heart Disease: A Diagrammatic Atlas. New York, Liss, 1988.

image

Fig. 19-5 Total anomalous pulmonary venous connection with mixed drainage to both coronary sinus and vertical vein.

Modified from Mullins CE, Mayer DC: Congenital Heart Disease: A Diagrammatic Atlas. New York, Liss, 1988.

image

Fig. 19-6 Partial anomalous pulmonary venous connection to the superior vena cava. LA, left atrium; RA, right atrium.

Modified from Mullins CE, Mayer DC: Congenital Heart Disease: A Diagrammatic Atlas. New York, Liss, 1988.

B. Partial anomalous pulmonary venous return

1. Abnormalities of the pulmonary venous connections can involve one or more of the pulmonary veins. They include:

a. Isolated single anomalous vein.

b. Anomalous right upper pulmonary vein (most often seen in sinus venosus type of ASD).

c. Anomalous pulmonary vein or veins with secundum ASD (rare).

d. Anomalous right lower pulmonary vein with right lung hypoplasia or scimitar syndrome (rare).

2. In partially anomalous pulmonary venous return (PAPVC), one or two or even three pulmonary veins drain into the RA or connect abnormally with a systemic vein (usually SVC).

3. PAPVC can be associated with a secundum ASD.

4. A patient with PAPVC is usually asymptomatic and might present later in childhood with clinical features of left-to-right shunt with dilated RA and RV (volume overload).

5. Partial APVC can occur in association with many other different intracardiac defects. In single-ventricle lesions, this can represent a serious problem, particularly if it is not correctable, given the need for unobstructed pulmonary venous blood flow in Fontan physiology.

6. Infants can present in the neonatal period with respiratory distress related to right lung hypoplasia or pulmonary hypertension due to obstruction of the right pulmonary veins.

III. TAKE-HOME MESSAGE

REFERENCES

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Bando K, Turrentine MW, Ensing GJ, et al. Surgical management of total anomalous pulmonary venous connection. Thirty-year trends. Circulation. 1996;94(9 Suppl):II12-II16.

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Bove EL, de Leval MR, Taylor JF, et al. Infradiaphragmatic total anomalous pulmonary venous drainage: Surgical treatment and long-term results. Ann Thorac Surg. 1981;31(6):544-550.

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