Anaesthetic implications of Costello syndrome

Katcher, Kelly; Bothwell, Marcella; Tobias, Joseph D.

doi:10.1046/j.1460-9592.2003.01052.x

Cited by 9 publications

(13 citation statements)

References 19 publications

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“…We found 31 articles that described 57 CS patients in the neonatal period and 5 articles reporting on respiratory symptoms later in life in 17 additional patients for a total of 74 literature patients [Say et al, 1993; Zampino et al, 1993; Torrelo et al, 1995; Fukao et al, 1996; Johnson et al, 1998; Kerr et al, 1998; Pratesi et al, 1998; Feingold, 1999; Flores-Nava et al, 2000; Boente et al, 2001; Van den Bosch et al, 2002; Katcher et al, 2003; Nasca et al, 2003; Dickson et al, 2004; Gregersen and Viljoen, 2004; Waldburg et al, 2004; Della Marca et al, 2006; Kerr et al, 2006; van Steensel et al, 2006; Denayer et al, 2008; Digilio et al, 2008; Gripp et al, 2008; Lo et al, 2008; O'Shea et al, 2008; Kuniba et al, 2009; Piccione et al, 2009; Smith et al, 2009; Girisha et al, 2010; Laux et al, 2011; Burkitt-Wright et al, 2012; Gripp et al, 2012; Gripp et al, 2012; Lorenz et al, 2012; Alfieri et al, 2014; Weaver et al, 2014]. The studies were all case reports or retrospective case series.…”

Section: Resultsmentioning

confidence: 99%

Respiratory system involvement in Costello syndrome

Gomez‐Ospina

Kuo

Ananth

et al. 2016

American J of Med Genetics Pt A

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Costello syndrome (CS) is a multisystem disorder caused by heterozygous germline mutations in the HRAS proto-oncogene. Respiratory system complications have been reported in individuals with CS, but a comprehensive description of the full spectrum and incidence of respiratory symptoms in these patients is not available. Here we report the clinical course of four CS patients with respiratory complications as a major cause of morbidity. Review of the literature identified 56 CS patients with descriptions of their neonatal course and 17 patients in childhood/adulthood. We found that in the neonatal period respiratory complications are seen in approximately 78% of patients with transient respiratory distress reported in 45% of neonates. Other more specific respiratory diagnoses were reported in 62% of patients, the majority of which comprised disorders of the upper and lower respiratory tract. Symptoms of upper airway obstruction were reported in CS neonates but were more commonly diagnosed in childhood/adulthood (71%). Analysis of HRAS mutations and their respiratory phenotype revealed that the common p.Gly12Ser mutation is more often associated with transient respiratory distress and other respiratory diagnoses. Respiratory failure and dependence on mechanical ventilation occurs almost exclusively with rare mutations. In cases of prenatally diagnosed CS, the high incidence of respiratory complications in the neonatal period should prompt anticipatory guidance and development of a postnatal management plan. This may be important in cases involving rarer mutations. Furthermore, the high frequency of airway obstruction in CS patients suggests that otorhinolaryngological evaluation and sleep studies should be considered.

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Section: Resultsmentioning

confidence: 99%

Respiratory system involvement in Costello syndrome

Gomez‐Ospina

Kuo

Ananth

et al. 2016

American J of Med Genetics Pt A

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“…3 Noonan syndrome patients have distinctive craniofacial features (macrocephaly, broad forehead, bitemporal narrowing, hypoplasia of supraorbital ridges, down-slanting palpebral fissures, depressed nasal bridge, low-set ears, high-arched palate) and congenital heart defects (pulmonary valve stenosis, HOCM); however, these patients have fewer neurological findings than CFC syndrome patients. 1,6 Because the 3 syndromes share similar phenotypic presentations, making a clinical diagnosis based on features alone is difficult. HOCM and rhythm disturbances (supraventricular tachycardia, atrial fibrillation, atrial flutter, premature atrial contractions, premature ventricular contractions) are present in Costello syndrome.…”

Section: Discussionmentioning

confidence: 99%

Anesthesia for a Pediatric Patient with Cardiofaciocutaneous Syndrome

Lam

Dare²,

Nguyen³

et al. 2015

A & A Case Reports

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Cardiofaciocutaneous syndrome is a rare syndrome that is characterized by distinct craniofacial features, cardiac abnormalities, and multiple organ involvement. Patients may present with pulmonary stenosis, hypertrophic cardiomyopathy, micrognathia, a short neck, laryngomalacia, and tracheomalacia; all of which may significantly impact the perioperative course of these patients. We describe a 6-year-old child with cardiofaciocutaneous syndrome presenting for an orthopedic procedure. He had an uneventful perioperative and postoperative course.

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“…Malformative syndromes, causing craniofacial abnormalities, are very frequently associated with sleep‐related respiratory abnormalities [Sher, 1990; Pijpers et al, 2004]. Sleep‐related respiratory disorders have been occasionally described in CS [Mori et al, 1996; Popa et al, 1996; Katcher et al, 2003].…”

Section: Introductionmentioning

confidence: 99%

Obstructive sleep apnea in Costello syndrome

Marca

Vasta

Scarano

et al. 2006

American J of Med Genetics Pt A

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Costello syndrome (CS) was initially described by Costello in 1971; it is caused by a germline mutation in HRAS proto-oncogene. The aim of the present study was to evaluate the respiratory activity during sleep in a group of subjects with CS. We studied 10 consecutive patients, 4 males and 6 females, aged 3-29 years, affected by CS. All patients underwent clinical, neurological, otholaryngologic and radiologic evaluation, and a full-night polysomnography in the sleep laboratory. Polysomnography showed that seven patients presented a relevant number of respiratory events of obstructive type during sleep. The apnea-hypopnea index (AHI) ranged from 0 to 19.2 events per hour (mean index = 7.5 +/- 6.9 events/hr). In one patient AHI was not evaluable because of tracheostomy. Apnea induced mild or moderate hemoglobin desaturations (mean of lowest SpO2 values = 85.4 +/- 5.5%). Only sporadic respiratory pauses of central type were observed (mean number of central apnea per study: 7.2 +/- 6.8 events/hr). Sleep structure was fragmented, with a high number of awakenings (mean number of awakenings was 13.2 +/- 8.1; of these, 4.8 +/- 2.5 lasted longer than 2 min). In all patients, otolaryngologic and radiologic observations revealed one or more sites of narrowing in the upper airways. Our results suggest that Costello patients have a high prevalence of obstructive sleep-related respiratory disorders, which need to be assessed by means of polysomnography.

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Anaesthetic implications of Costello syndrome

Cited by 9 publications

References 19 publications

Respiratory system involvement in Costello syndrome

Respiratory system involvement in Costello syndrome

Anesthesia for a Pediatric Patient with Cardiofaciocutaneous Syndrome

Obstructive sleep apnea in Costello syndrome

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