Total Anomalous Pulmonary Venous Connection Clinical Presentation

Updated: May 02, 2015
  • Author: Allen D Wilson, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
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Presentation

History

Patients with pulmonary vein obstruction

Pulmonary venous obstruction occurs in virtually all patients with subdiaphragmatic drainage and in approximately 50% of patients with supracardiac drainage. Patients with obstruction develop symptoms early, usually at age 24-36 hours, including tachypnea, tachycardia, and cyanosis. Signs of pulmonary hypertension progress with decreasing pulmonary blood flow and worsening cyanosis. Natural history is that of progressive clinical deterioration and early death in the first week or month of life, depending on the degree of pulmonary venous obstruction.

Physical examination findings include severe cyanosis with significant respiratory distress. Cardiac impulse is prominent anteriorly, but, usually, the heart is not clinically enlarged. The pulmonary component of the second heart sound is increased, and a gallop may be present. A murmur usually is not present, yet a systolic murmur over the pulmonary area or a tricuspid insufficiency murmur at the mid and lower left sternal border may be observed. Peripheral pulses are usually normal after birth but may decrease as heart failure progresses. Liver enlargement commonly occurs, especially in total anomalous pulmonary venous connection (TAPVC) type III, subdiaphragmatic drainage.

Patients without pulmonary venous obstruction

Patients with unobstructed pulmonary venous flow present with symptoms more similar to a very large atrial septal defect. Mild failure to thrive with greater respiratory effort than normal with activity or recurrent respiratory infections may be present. Often, chest radiography in patients with respiratory infections reveals significant cardiac enlargement.

Physical examination findings suggest right ventricular volume loading with increase in right ventricular impulse, a wide split-second sound (usually with normal-intensity pulmonary closure), and pulmonary outflow murmur with or without a tricuspid diastolic murmur. Cyanosis infrequently occurs in the first year of life.

Reverse difference cyanosis has been reported in the newborn period in total anomalous pulmonary venous connection to the superior vena cava (SVC). In this setting highly saturated blood in the SVC streams preferentially from right ventricle across ductus arteriosus to descending aorta; lower saturated blood in inferior vena cava streams across the foramen ovale to the left heart and aorta, resulting in higher saturation in the foot than in the right hand. [8]

If a restriction develops in the foramen ovale, some degree of pulmonary hypertension is more likely, with earlier onset of tachypnea, louder pulmonary closure sound, more prominent right ventricular impulse, and a greater likelihood of systemic and pulmonary venous congestion.

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Causes

Sociodemographic findings in patients with total anomalous pulmonary venous connection were similar to those in control subjects. [3] Family history showed no other family members with total anomalous pulmonary venous connection. Noncardiac malformations were present in 9 patients (22%); however, other cardiac and noncardiac malformations were present in 6 first-degree relatives and 7 second-degree relatives of patients with isolated cases (41%). Altogether, a genetic etiology was suspected to contribute to a "failure of targeted pulmonary vein growth" because of the number of multiplex families. In addition, total anomalous pulmonary venous connection has been reported in siblings in other series.

Exposure histories showed possible association of total anomalous pulmonary venous connection with lead or pesticide exposure and raised questions of familial susceptibility to certain environmental teratogens.

Total anomalous pulmonary venous connection frequently occurs in association with asplenia and pulmonary atresia. Overall, one third of patients with total anomalous pulmonary venous connection have a major associated cardiovascular malformation and two thirds of patients have isolated total anomalous pulmonary venous connection.

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