Anesth Analg 2005;100:1860
© 2005 International Anesthesia Research Society
doi: 10.1213/01.ANE.0000156687.85500.4B
LETTER TO THE EDITOR
General Anesthesia for Cardiac Catheterization in a Child with Trisomy 14 Mosaicism
Gudrun Kunst, MD, DEAA, and
C. Gillbe, MB, ChB, FRCA
Department of Anaesthetics, King’s College Hospital, gudrun.kunst{at}kingsch.nhs.uk (Kunst)
Department of Anaesthesia, Royal Brompton Hospital, London, United Kingdom (Gillbe)
Trisomy 14 mosaicism is an extremely rare genetic disorder first described in the mid 1970s (1). Only 18 live-born infants and children have been presented in nonanesthetic journals (2–4). For general anesthesia relevant clinical findings in patients with trisomy 14 mosaicism include growth and psychomotor retardation, micrognathia, a short neck, and congenital heart disease including tetralogy of Fallot, atrial septal defect, ventricular septal defect, and patent ductus arteriosus (3). Therefore, the anesthesiologist needs to be aware of two major anesthetic challenges: difficult airway (5,6) and cardiac abnormalities (7).
A 12-mo-old female patient with trisomy 14 mosaicism and tetralogy of Fallot was scheduled for cardiac catheterization. Weight and height were below the third centile. Examination revealed micrognathia, a small right ear, bilateral coloboma of the iris, clubbing of her fingers, and tachypnea, and mild crackles were heard at both lung bases (Fig. 1). Oxygen saturation by pulse oximetry was 93% on air and she did not show with cyanotic spells. She had a 3–4/6 ejection systolic murmur all over her precordium. She was premedicated with oral midazolam and general anesthesia was induced with sevoflurane. After IV atracurium, laryngoscopy revealed a grade III Cormack and Lehane (8,9) score. Therefore a bougie was inserted below the epiglottis before an endotracheal tube was inserted over the bougie. General anesthesia was maintained with sevoflurane, air, and oxygen. The patient was hemodynamically stable during the 90-min procedure. Cardiac catheterization revealed increased right ventricular pressures and ventriculography confirmed tetralogy of Fallot. Removal of the tracheal tube at the end of the procedure was uneventful, as was recovery from general anesthesia.
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Figure 1. Patient with trisomy 14 mosaicism at the age of 12 months, showing micrognathia and a small right ear.
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Acknowledgement:
We thank the patient’s mother for her permission by written consent to use a photograph of her daughter.
References
- Rethore MO, Couturier J, Carpentier S, et al. Trisomie 14 en mosa"que chez une enfant multimalformee. Ann Genet 1975;18:71–4.[Medline]
- Kaplan LC, Wayne A, Crowell S, Latt SA. Trisomy 14 mosaicism in a liveborn male: Clinical report and review of the literature. Am J Med Genet 1986;24:925–30.
- Fujimoto A, Allanson J, Crowe CA, et al. Natural history of mosaic trisomy 14 syndrome. Am J Med Genet 1992;44:189–96.[Medline]
- Lynch MF, Fernandes CJ, Shaffer LG, Potocki L. Trisomy 14 mosaicism: A case report and review of the literature. J Perinatol 2004;24:121–3.[Medline]
- Frei FJ, Ummenhofer W. Difficult intubation in paediatrics. Paediatr Anaesth 1996;6:251–63.[Medline]
- Walker RWM. The laryngeal mask airway in the difficult airway: an assessment of positioning and use in fibreoptic intubation. Paediatric Anaesthes 2000;10:53–8.
- Davies LK, Knauf DG. Anesthetic management for patients with congenital heart disease. In: Hensley FA, Martin DE, Gravlee GP, eds. A practical approach to cardiac anesthesia. Philadelphia: Lippincott Williams & Wilkins, 2003:360–424.
- Cormack RS, Lehane J. Difficult tracheal intubation in obstetrics. Anaesthesia 1984;39:1105–11.[Web of Science][Medline]
- Yentis SM, Lee DJH. Evaluation of an improved scoring system for the grading of direct laryngoscopy. Anaesthesia 1998;53:1041–44.[Web of Science][Medline]
