Anesthetic management of a child with both Marfan syndrome and Turner syndrome

Abstract

Marfan syndrome is an autosomal dominant heritable disorder of the connective tissue that involves primarily the skeletal, ocular, and cardiovascular systems. Turner syndrome is a genetic disorder resulting from partial or complete X chromosome monosomy. We report the anesthetic management of a case of Marfan-Turner syndrome, which is the first such case to appear in the literature to our knowledge. A 3 year old ASA III girl was scheduled to undergo minor plastic surgery. She had a short webbed neck, prognathism, micrognathia, low-set ears, and a high palate. Her anterior and posterior facial heights were long. She had growth retardation, pectus excavatum, and joint laxity. She also had high-degree mitral insufficiency, mitral valve prolapse, and an atrial septal defect. After sevoflurane induction, the airway was secured using a size 2 LMA without any difficulty in the spontaneously breathing patient. Her blood pressure was within normal limits, no arrthymia occurred, and anesthesia was uneventful. Special care should be given to syndromic patients. Prior medical evaluations and any prior anesthetic history can help to focus preoperative evaluations and planning. Preoperatively targeting relevant organ systems, any anatomic or laboratory abnormalities that can be optimized, and perioperative airway management are all key to a successful outcome.

Perioperative management and considerations in pediatric patients with connective tissue disorders undergoing cardiac surgery

“…The benefit of reporting these data, including from smaller patient samples, is that it provides a glimpse into a wide range of patient phenotypes and anesthetic practices, which can be beneficial in demonstrating that variation in anesthetic technique can be safe and effective. Additionally, single‐patient reports may highlight rare presentations that pose unique challenges, as in a case of Marfan syndrome comorbid with Turner syndrome 23 . Difficult intubation was also largely absent in small case reports, 16–18,23 and laryngeal mask airway was successfully used for a minor procedure, 23 but our study showed a high percentage (21%) of difficult airway in LDS patients.…”

“…The potential cardiopulmonary sequelae of these long‐standing, severe orthopedic deformities, including compression of the lung parenchyma, heart, and great vessels, may cause significant respiratory and hemodynamic instability both preoperatively and intra‐operatively. Cardiac and aortic disease is of great concern for all patients with connective tissue disorders who must undergo general anesthesia, but it is of particular relevance for cardiovascular surgery 1,7,23 . Most publications include specific recommendations for special populations, including pregnant women, but not for children 1,7 …”

“…Recommendations for care of pediatric patients with Marfan and LDS under anesthesia are supported mostly by anecdotal evidence from single‐patient encounters or small case series describing anesthetic methods and observed complications 16–18,22,23 . As early as 1967, Woolley et al 22 described four young children undergoing five surgical procedures.…”

Anesthetic Implications of Emergent Cesarean Section in a Parturient with Marfan Syndrome Complicated by Ascending Aortic Aneurysm and Heart Failure

“…To minimize this cardiovascular response, we used an LMA instead of an endotracheal tube (7). Although the use of LMA for Cesarean section on the parturients with Marfan syndrome has been not yet reported, a successful use of LMA on a child with Marfan syndrome has been performed (18). The use of LMA should be prudent in a parturient woman undergoing Cesarean section considering the potential risk of aspiration of gastric contents.…”

Aortic root dilation in a child with Marfan syndrome and mosaic Turner syndrome

“…This patient's cardiac abnormalities included significant mitral insufficiency, mitral valve prolapse, minimal mitral valve stenosis, and an atrial septal defect. She did not show evidence of aortic dilation 6 .…”