Congenital pulmonary sling, aorto-pulmonary window and pulmonary vein obstruction as a diagnostic and therapeutic challenge in an infant with VACTERL association.
In a newborn with anal atresia and urethral valves an incomplete VACTERL association, was diagnosed and a colon anus praeter was placed. Sweating and heart murmur led to cardiac diagnostics. By 2D colour Doppler echocardiography a huge atrial septal defect and pulmonary venous stenoses were diagnosed. Additionally, a pulmonary sling combined with an aortopulmonary window (AoPAw) was suspected and later confirmed by angiography. Heart failure developed and closure of the AoPAw, transplantation of the left pulmonary artery and closure of the atrial septal defect was performed at the age of 4 weeks. But the patient did not improve. Pulmonary hypertension with suprasystemic pressure in the right ventricle originating from a stenosis of the new orifice of the left pulmonary artery and obstruction of the right pulmonary veins was diagnosed by echocardiography and confirmed by angiography. At the age of 8 months the orifice of the left pulmonary artery was enlarged by a patch, the obstruction of left sided pulmonary veins was opened, and the rightsided pulmonary veins were newly implanted into the left atrium. Finally the inter-atrial communication was closed by a patch plastic. Again, postoperatively the patient improved only slightly. At the age of 10 months trans-septal catheterisation was performed. Angiography revealed a successful balloon dilatation of the long obstruction of the right pulmonary veins. Later on, an absorbable magnesium stent was implanted into the right upper pulmonary vein and medication with an endothelin antagonist was started. Temporarily the patient improved significantly. Within 6 weeks, right ventricular systolic pressure was again suprasystemic due to extreme inflow obstruction of the right pulmonary vein diagnosed by echocardiography. Severe heart failure developed and at the age of 1 year the patient died.
Trowitzsch
Eckardt
E
Department of Paediatric Cardiology, Vestische Kinder- und Jugendklinik, University of Witten/Herdecke, Dr. Friedrich-Steiner-Str. 5, 45711, Datteln, Germany. e.trowitzsch@kinderklinik-datteln.de
Schneider
Martin
M
Urban
Andreas
A
Asfour
Boulos
B
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000628:therapy; D001011:Aorta / Q000002:abnormalities*; D017809:Fatal Outcome; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011651:Pulmonary Artery / Q000002:abnormalities*; D011668:Pulmonary Veno-Occlusive Disease / Q000151:congenital* / Q000175:diagnosis* / Q000628:therapy