Anesthetic Management of a Pediatric Patient With Cardiofaciocutaneous Syndrome

Abstract

Cardiofaciocutaneous (CFC) syndrome is a rare condition characterized by congenital heart disease, craniofacial dysmorphology, and dermatological abnormalities. CFC syndrome is one of the RASopathies, a family of syndromes that also includes Noonan and Costello syndromes, all with underlying gene mutations involving the Ras/mitogen-activated protein kinase pathways. Important considerations for anesthesiologists caring for these patients include the need to evaluate for possible cardiac defects, anticipating and planning for potentially difficult airway management, and the consideration of potential weakness of the respiratory muscles. Musculoskeletal abnormalities, such as muscle weakness and decreased muscle mass, are observed in all RASopathies, but are particularly prominent in CFC syndrome. In patients with CFC syndrome who experience respiratory muscle weakness, the use of desflurane and remifentanil may aid in a faster recovery and effectively help reduce the risk of respiratory complications, such as respiratory depression, following general anesthesia because of their rapid metabolism or elimination.

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review

“…During childhood, prolonged enteral tube feeding is needed if oral aversion persists, and if the oral intake is inadequate. Gastrostomy placement in the first year of life is indeed reported in multiple papers (Armour & Allanson, 2008;McDaniel & Fujimoto, 1997;Shionoya, Yamamoto, Sunada, & Nakamura, 2020), occurring in more than 50% of children (Allanson et al, 2011).…”