We present an unusual case of an intracardiac Eustachian valve cyst observed concurrently with atresia of the coronary sinus ostium, a persistent left superior vena cava (LSVC) and a bicuspid aortic valve. There have been several echocardiographic reports of Eustachian valve cysts; however, there is no report of multidetector computed tomography (MDCT) findings related to a Eustachian valve cyst. Recently, we observed a Eustachian valve cyst diagnosed on MDCT showing a hypodense cyst at the characteristic location of the Eustachian valve (the junction of the right atrium and inferior vena cava). MDCT also demonstrated additional cardiovascular anomalies including atresia of the coronary sinus ostium and a persistent LSVC and bicuspid aortic valve.
Aged ; Aortic Valve/abnormalities/radiography ; Cysts/*radiography ; Echocardiography, Transesophageal ; Heart Atria/abnormalities/radiography ; Heart Defects, Congenital/*radiography/surgery ; Humans ; Male ; *Tomography, X-Ray Computed ; Vena Cava, Inferior/abnormalities/radiography ; Vena Cava, Superior/abnormalities/radiography

The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping in a 7-day-old male infant diagnosed with a large patent ductus arteriosus (PDA) with hypoplasia of aortic valve and aortic arch. These have not been previously reported with ring chromosome 6. He recovered from heart failure symptoms after ligation of the PDA. He showed infantile failure to thrive and delayed milestone in a follow-up evaluation. To the best of our knowledge, this is the first report of a Korean individual with ring chromosome 6 and hemodynamically significant PDA.
Abnormalities, Multiple/*diagnosis/genetics/radiography ; Aorta, Thoracic/radiography ; Aortic Valve/ultrasonography ; Chromosome Disorders/*diagnosis/genetics ; Chromosomes, Human, Pair 6/genetics ; Ductus Arteriosus, Patent/*diagnosis/genetics/radiography ; Humans ; Infant ; Karyotyping ; Male ; Ring Chromosomes ; Tomography, X-Ray Computed