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INTRODUCTION

FOCUS POINTS

  1. Trisomy 21 (Down syndrome): Congenital heart disease, sleep apnea, and subglottic stenosis.

  2. Trisomy 13 and 18: High infant mortality rate, apnea, and airway challenges.

  3. Turner syndrome: Cardiac evaluation, webbed neck with limited mobility, and difficult IV access.

  4. VACTERL: Three defining features for diagnosis, cardiac evaluation, and spontaneous ventilation for TEF.

  5. CHARGE: Major features include choanal atresia, coloboma, cranial nerve dysfunction, and characteristic ear anomalies.

  6. 22q11 deletion syndrome: Cardiac abnormalities, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia.

  7. Muscular dystrophy does not increase the risk of malignant hyperthermia (MH).

  8. Williams syndrome: “Cocktail-party” personality, supravalvar aortic stenosis at high risk for perioperative myocardial ischemia.

With advances in the field of molecular cytogenetics, more genetic syndromes are being formally diagnosed than ever before. Likewise, further innovations in medical care have fostered the survival of children with multiple congenital malformations further into adulthood. Children with a chronic underlying disorder of genetic origin account for over two-thirds of hospital admissions1—and are consequently quite likely to require (anesthesia for) diagnostic imaging or procedures. While syndromes do not account for all “disorders of genetic origin,” they are collectively common (albeit individually rare) and likely to be encountered with regularity by the anesthesiologist caring for pediatric patients.

Children with genetic dysmorphic conditions are at greater risk for perioperative morbidity and mortality with multiple organ systems often affected.1 While neurologic and developmental abnormalities are frequent and can impact perioperative care, many are also associated with cardiovascular disease, and various craniofacial abnormalities that may affect airway management. To successfully anticipate perioperative challenges and provide safe and effective care, it is imperative that pediatric anesthesiologists are aware of potential congenital anomalies and their associated anatomic and physiologic disturbances. This chapter reviews the major features and perioperative implications of common syndromes that are pertinent to the pediatric anesthesiologist.

TRISOMY 21 (DOWN SYNDROME)

Trisomy 21 or down syndrome (DS) (see Figure 40-1), which is caused by an extra 21st chromosome, is the most common autosomal chromosomal disorder in humans, with an incidence of 1:700 live births.2,3 The characteristic phenotypic features of these patients include brachycephaly, oblique palpebral fissures, epicanthal folds, small low-set ears, midfacial and mild mandibular hypoplasia, and a short neck.3 Individuals with DS may have multiple reasons of airway obstruction such as protruding tongue and adenotonsillar hypertrophy, in combination with pharyngeal hypotonia, which frequently contribute to upper airway obstructive symptoms and obstructive sleep apnea (OSA). Subglottic stenosis, cleft palate, and choanal atresia are also more frequently seen in DS. There is a high rate (40% to 50%) of congenital heart disease, particularly endocardial cushion defects, such as ASD, VSD, and atrioventricular canal defects (though PDA and TOF are also common).3 There is a higher incidence of pulmonary hypertension in children with DS; coexisting congenital heart disease, higher rates of persistent pulmonary hypertension of the newborn, and predisposition to upper airway ...

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