Toddler with a connective tissue disease

CXR of Marfan syndrome — CXR AP shows a prominent aortic arch and left lateral border of the aorta due to aortic ectasia.

The diagnosis was Marfan Syndrome.

Preschooler with right upper quadrant pain and jaundice

US of gallbladder hydrops in Kawasaki's disease

The diagnosis was Kawasaki’s disease causing hydrops of the gallbladder.

Teenager with left arm tingling

CT angiogram of Takayasu arteritis of the subclavian artery — CT angiogram of the chest with 3D reconstruction shows diffuse narrowing of the left subclavian artery beginning at its origin along with diffuse narrowing of the left vertebral artery beginning at its origin.

The diagnosis was Takayasu arteritis.

Teenager with abdominal pain

CT of azygos continuation of the inferior vena cava — Coronal CT with contrast of the abdomen (below) shows interruption of the infrahepatic inferior vena cava which then communicates with the hemiazygos vein to the left of the spine which then via dilated azygos and hemiazygos venous collaterals alongside the vertebral body on the axial CT (above) ultimately drain into the superior vena cava.

The diagnosis was azygos continuation of the inferior vena cava.

Former premature newborn with past history of umbilical venous catheter

CXR and CT of portal vein thrombosis due to umbilical venous catheter — CXR AP (above) shows a calcification in the liver just to the right of the L1 vertebral body. Axial CT with contrast of the abdomen (below) shows the dense calcification to be in the left portal vein.

The diagnosis was portal vein thrombosis due to prior umbilical vein catheter.

Newborn with an abnormal fetal echo

CT of interrupted aortic arch — Axial CT with contrast of the heart (above), obtained in a venous phase, shows discontinuity of the ascending and descending aorta while the sagittal image (below right) shows a dilated patent ductus arteriosus reconstituting the descending aorta and the coronal image (below left) shows dextrocardia.

The diagnosis was interrupted aortic arch supplied by a patent ductus arteriosus in a patient with dextrocardia.

School ager with bilateral scrotal pain and a skin rash

US of epididymitis secondary in Henoch-Schonlein Purpura — Transverse color doppler US of the scrotum shows enlargement and hypervascularity of the bilateral crescent shaped epididymides when compared to their respective round testicles, to which they are lateral in position.

The diagnosis was bilateral epididymitis in a patient with Henoch-Schonlein Purpura

School ager with abdominal pain who is now unresponsive

CT of pseudoaneurysm in Ehlers-Danlos Syndrome — Axial CT with contrast of the abdomen shows an intimal flap in the superior mesenteric artery and a large retroperitoneal hematoma.

The diagnosis was spontaneous dissection with a bleeding pseudoaneurysm of the superior mesenteric artery in a patient with Ehlers-Danlos syndrome.

School ager with hypercoagulable state with respiratory distress

CXR, VQ scan, angiogram of pulmonary embolism / pulmonary embolus / PE — CXR AP (above) shows a large wedge shaped infiltrate in the right lower lobe and a right pleural effusion. Ventilation image from a V/Q scan (middle left) shows normal ventilation to both lungs. Perfusion image from a V/Q scan (middle right) shows essentially no perfusion to the right lung. PA image from a pulmonary angiogram shows a near complete lack of blood flow to the right lung.

The diagnosis was right pulmonary embolism.

Infant with cough and decreased left ventricular ejection fraction

CXR and CT of anomalous left coronary artery from the pulmonary artery / ALCAPA — CXR AP (above) shows the left hemithorax is completely opacified with no mediastinal shift to the left and the pulmonary vascularity is congested. Axial CT with contrast of the chest (below) shows an extremely dilated left ventricle causing compression of the left mainstem bronchus and complete collapse of the left lung.

The diagnosis was anomalous left coronary artery from the pulmonary artery causing ischemic cardiomyopathy.

Newborn with grunting

CXR of persistent pulmonary hypertension — CXR AP shows cardiomegaly and increased pulmonary blood flow.

The diagnosis was persistent pulmonary hypertension.

School ager with dyspnea

Angiogram of pulmonary ateriovenous malformation — CXR AP (upper left) shows an ill-defined mass in the right hilum. AP image from a selective injection of the right pulmonary artery from a pulmonary angiogram (upper right) shows a tangle of dilated arterial vessels comprising the mass. Arterial phase (lower left) and venous phase (lower right) AP images from a pulmonary angiogram demonstrate the early arterial appearance of the lesion and then its venous drainage back into the left atrium.

The diagnosis was pulmonary arteriovenous malformation.

School ager with heterotaxy syndrome and asplenia and bilious vomiting

CXR of heterotaxy syndrome and upper GI of malrotation without midgut volvulus — CXR AP (above) shows the cardiac apex to be in the right hemithorax and the gastric bubble to be in the left upper quadrant. AP image from an upper GI (below) shows the ligament of Treitz to be in the right upper quadrant. There is no evidence of duodenal obstruction. The proximal jejunum is also in the right upper quadrant.

The diagnosis was malrotation without midgut volvulus in a patient with heterotaxy syndrome.

Infant with heterotaxy syndrome and complex congenital heart disease and bilious vomiting

Upper GI of malrotation without midgut volvulus in heterotaxy — AP image from an upper GI shows the ligament of Treitz to be in the right upper quadrant. There is no evidence of duodenal obstruction. The proximal jejunum is also in the right upper quadrant. There is also gastroesophageal reflux.

The diagnosis was malrotation without midgut volvulus in a patient with heterotaxy syndrome.

Young adult who has gone from being acyanotic to now being cyanotic

CXR of Eisenmenger syndrome due to ventricular septal defect / VSD — CXR AP at 4 years of age (above) shows mild prominence of the pulmonary arteries bilaterally. CXR AP at 24 years of age (below) shows marked enlargement of the pulmonary arteries bilaterally with peripheral pruning of the pulmonary vasculature.

The diagnosis was Eisenmenger syndrome due to ventricular septal defect.

Cyanotic newborn

Angiogram of truncus arteriosus — AP image from an aortic root injection in an angiogram shows simultaneous opacification of a right aortic arch and the pulmonary artery arising from it.

The diagnosis was truncus arteriosus.

Cyanotic newborn

CXR of transposition of the great arteries / transposition of the great vessels / TGA — CXR AP shows increased pulmonary vascularity and cardiomegaly.

The diagnosis was transposition of the great arteries.

Cyanotic newborn

CXR of totally anomalous pulmonary venous return — CXR AP shows increased pulmonary vascularity and a normal sized heart with an upturned cardiac apex.

The diagnosis was total anomalous pulmonary venous return.

Cyanotic toddler

CXR of tetralogy of Fallot / TOF — CXR AP shows decreased pulmonary vascularity and a normal sized heart with the cardiac apex slightly upturned.

The diagnosis was tetralogy of Fallot.

Cyanotic newborn

CXR of pulmonary atresia with intact ventricular septum — CXR AP shows decreased pulmonary vascularity and mild cardiomegaly.

The diagnosis was pulmonary atresia with intact ventricular septum.

Acyanotic infant

Angiogram of patent ductus arteriosus / PDA — AP image from a ventricular injection in an angiogram shows simultaneous opacification of the aorta and main pulmonary artery.

The diagnosis was patent ductus arteriosus.

Cyanotic newborn

CXR of hypoplastic left heart syndrome / HLHS — CXR AP shows increased pulmonary vascularity and cardiomegaly.

The diagnosis was hypoplastic left heart syndrome.

Acyanotic infant with grunting

CXR of tachyarrythmia cardiomyopathy — CXR AP shows increased pulmonary vascularity and mild cardiomegaly.

The diagnosis was tachyarrythmia cardiomyopathy.

Acyanotic infant

CXR of AV canal / endocardial cushion defect — CXR AP and lateral shows hyperexpanded lungs, increased pulmonary vascularity and marked cardiomegaly.

The diagnosis was AV canal.

Acyanotic teenager

CXR of atrial septal defect / ASD — CXR AP shows mildly increased pulmonary vascularity and a normal heart size.

The diagnosis was atrial septal defect.