International Journal of Cardiology 71 (1999) 89–91 www.elsevier.com / locate / ijcard Letter to the Editor Isolated infundibuloarterial inversion and fifth aortic arch in an infant: a newly recognized cardiovascular phenotypes with chromosome 22q11 deletion a, b c d e * Meng-Luen Lee , Ing-Sh Chiu , William Fang , Shyh-Jye Chen , Yu-Mei Wang , f Wun-Tsong Chaou a Department of Pediatrics, Division of Pediatric Cardiology and Director of Pediatric Intensive Care Unit, Changhua Christian Hospital, Changhua 50050, Taiwan b Department of Surgery, Division of Cardiovascular Surgery, College of Medicine, National Taiwan University Hospital, Taipei 10002, Taiwan c Department of Pediatrics, Laboratory of Medical Genetics, Changhua Christian Hospital, Changhua 50050, Taiwan d Department of Medical Imaging, College of Medicine, National Taiwan University Hospital, Taipei 10002, Taiwan e Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, Changhua Christian Hospital, Changhua 50050, Taiwan f Department of Pediatrics, Division of Pediatric Neurology and Head, Changhua Christian Hospital, Changhua 50050, Taiwan Received 22 March 1999; received in revised form 17 May 1999; accepted 4 June 1999 To the Editor: acutely ill with acrocyanosis, tachycardia (160 beats / min), and tachypnea (48 breaths / min). The breathing Conotruncal and arch artery anomalies have been sound was diminished in the left lung field. There well known for their frequent association with chro- was a grade IV/ VI systolic ejection murmur over mosome 22q11 deletion [1]. We have encountered a bilateral middle sternal border. Liver was palpable 5 newly recognized cardiovascular phenotypes of iso- cm below the right costal margin. Plain chest film lated infundibuloarterial inversion [2] and a fifth and pleural echography suggested massive pleural aortic arch in an 11-month-old infant who had effusion. Chest tube insertion revealed milky pleural chromosome 22q11 deletion. effusion, which is characterized by increased lympho- 3 An 11-month-old female infant was found to have cyte counts (10,514 / mm ) and increased triglyceride lip cyanosis, tachycardia, and tachypnea since birth. level (1,932 mg / dL). The congenital chylothorax was There was a grade III / VI systolic ejection murmur further treated by a pleural-peritoneal shunt, total heard over the bilateral middle sternal border in the parenteral nutrition, and then elementary milk sup- 4th intercostal space at birth. A tentative diagnosis of plemented with medium-chain triglycerides. The double outlet right ventricle with subaortic ventricular second and third hospitalizations were related to septal defect and pulmonary stenosis was made generalized tonic-clonic seizure and recurrent pneu- echocardiographically. She was first admitted due to monia. Calcium levels and immune studies were acute cardiopulmonary distress and seizure at 11 within normal limits. No evidence of primary im- months of age. On physical examination, she was munodeficiency syndrome can be ascribed to. Re- underweight (5.3 kg ,3 percentile), and was looked fractory wheezing, stridor, and fever prompted the fourth hospitalization, during which time bacteremia ( Streptococcus viridans) with pneumonia intervened. *Correspondence author. Tel.: 00-886-4-7238595 Ext: 7442; fax: 00- 886-4-7238847 or 00-886-4-7232942. Wheeze and stridor still lingered despite a complete 0167-5273 / 99 / $ – see front matter  1999 Elsevier Science Ireland Ltd. All rights reserved. PII: S0167-5273(99)00099-6