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

PURPOSE: The clinical and radiological characteristics of the double aortic arch (DAA) and its differentiation from conotruncal malformations (CTM) were reported in order to familiarize pediatric practitioners with these congenital heart diseases. MATERIALS AND METHODS: From July 1994 to December 2006, a total of 6 patients (4 male and 2 female, aged 16 days to 6.5 years) with DAA were enrolled in this retrospective study. The study modalities included chart recordings, plain chest radiographs, barium esophagograms, echocardiograms, cardiac catheterization, cardiac angiograms, surgery, magnetic resonance imaging, and chromosome analysis. Patients with incomplete vascular rings or with right aortic arches and left ligamentum were excluded. In addition, the clinical and radiological profiles of 38 patients with CTM, including dextro-transposition of the great arteries (d-TGA) (n=28), hemitruncus arteriosus (HTA) (n=3), type I truncus arteriosus (TA) (n=4), and the aortopulmonary window (APW) (n=3), were comparatively reviewed. RESULTS: All 6 patients with DAA presented with postprandial choking and respiratory distress that prompted their initial visit to the hospital. One of the 6 patients presented with congestive heart failure, and none with cyanosis. Esophagograms showed indentations in 5 patients with DAA. All patients with d-TGA presented with cyanosis and heart failure, while patients with HTA, type I TA, and APW manifested overt heart failure. Suprasternal and subcostal approaches of the echocardiography may offer diagnositic windows for DAA. As for CTM, parasternal and subcostal approaches could always determine the causality. Cardiac catheterization with angiography comprehensively delineated the pathology. CONCLUSION: In case of postprandial choking and respiratory distress in neonates and infants, barium esophagograms can indicate the presence of DAA. Diagnosis of DAA and its differentiation from the CTM can be achieved by echocardiography, angiography, or magnetic resonance imaging.
Angiography ; Aorta, Thoracic/*abnormalities/radiography/ultrasonography ; Child ; Child, Preschool ; Diagnosis, Differential ; Echocardiography, Doppler ; Female ; Heart Defects, Congenital/classification/diagnosis ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Retrospective Studies