Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation

Sir,

Weill-Marchesani syndrome (WMS) is a rare inherited connective tissue disorder characterized by brachymorphy (short stature), brachydactyly (short and stubby fingers), joint stiffness and abnormalities in airway, heart and eye [Table 1].[1–3] WMS is inherited as autosomal recessive or dominant pattern.[1–3] Anaesthetic management of such a case can be challenging due to associated airway and cardiac problems.[1,2]

Table 1.

Criteria for diagnosis of Weill-Marchesani syndrome[1–3]

An eight-year-old boy (height 110.5 cm, weight 16.5 Kg) with WMS was admitted with severe myopia and glaucoma. His ophthalmic examination revealed glaucoma and lens displacement causing high myopia. Anti-glaucoma measures were started. Previous echocardiography showed myxomatous mitral valve (MV) with mitral regurgitation (MR). Repeat echocardiography substantiated that report. There was no history of cyanosis or breathlessness. His physical examination did not reveal any abnormality except grade II systolic murmur. He had nominal maxillary hypoplasia, limited extension of neck (up to 30°), malalignment of upper teeth. His modified Mallampati score was 2 and mouth opening was 2.5 cm. His routine preoperative investigations including electrocardiogram (ECG) were normal.

Child was scheduled for lensectomy and anterior vitrectomy of right eye. He received infective endocarditis prophylaxis. Premedication was withheld due to possibility of difficult intubation. Anaesthesia was induced with intravenous (IV) propofol after adequate pre-oxygenation. A size two reinforced laryngeal mask airway (RLMA) was inserted with digital manipulation without much difficulty. Anaesthesia was maintained with nitrous oxide, oxygen, sevoflurane, fentanyl and cisatracurium. Elective hyperventilation was used to produce mild hypocapnia. Surgery lasted for two and half hours. After reversal of muscle paralysis RLMA was removed when the patient became completely awake. His perioperative course was uneventful.

Our patient matched the criteria of WMS with positive family history [Table 1] [Figures 1 and 2].[1–3] Detailed cardiac evaluation, ECG and echocardiogram are essential in patient with WMS.[1,3] WMS patient with cardiac pathologies (valvular heart disease, prolonged QTc complex) can lead to adverse events like fall in cardiac output and ventricular tachycardia.[3] Our patient had only mitral valve pathologies without any ECG abnormality.[3] We managed our patient with proper evaluation and judicial use of cardio-stable anaesthesia.

Figure 1.

Maxillary hypoplasia, a typical manifestation of Weill- Marchesani syndrome

Figure 2.

Brachydactyly and short stubby hand, typical of Weill- Marchesani syndrome

Traditionally inhalational induction is selected in paediatric patients with difficult airway. Although the airway was a bit abnormal in our patient, but it was not so difficult to go only for inhalational induction. Commonly used sevoflurane induction (4-8%) can sometimes lead to apnea making anaesthetic management unsafe in patient with difficult airway causing sudden rise in intraocular pressure (IOP).[2,4,5] On the other hand graduated incremental induction in bigger child like our case can lead to unacceptable struggling which can lead to dangerous rise of IOP in a patient with glaucoma. Although some degree of vasodilatation and tachycardia is favourable, but exaggerated reduction of systemic vascular resistance may adversely affect cardiac stability in a patient with MR.[6]

As our institutional practice we go for titrated intravenous induction in bigger children to it make smoother and faster. IV induction was also successfully used in several cases of WMS with difficult airway.[1,2] We selected propofol induction because it is the preferred agent for LMA insertion and in glaucoma.[7]

We selected RLMA in place of tracheal intubation as it can be bent away from the surgical field without kinking which gives an unhindered access for ophthalmic surgery.[6] Also tracheal intubation would have been difficult in our case due to associated airway abnormality.[1,2] Airway manipulation and thereby effect on IOP is also much less with LMA compared to endotracheal intubation.[6] Though LMA is indicated in difficult airway, insertion of RLMA in is bit difficult.[6] But we successfully managed the airway with RLMA without much difficulty. We kept all other advanced airway gadgets ready at hand in case of failure. We used muscle relaxant only after securing the airway.

We selected balanced cardio-stable anaesthesia with low concentration sevoflurane (0.6-0.8%) and mild hypocapnia to prevent further rise of IOP and deleterious effect on already compromised cardiac status.[2] To our knowledge this is first ever report of use of RLMA in WMS patient with difficult airway complicated with cardiac abnormalities.

With appropriate preoperative evaluation and judicial selection of anaesthetic technique in a WMS patient having airway and cardiac abnormalities can be safely managed with RLMA.