|Year : 2018 | Volume
| Issue : 2 | Page : 85-88
Ellis–Van Creveld syndrome and its anesthetic implications
Rajesh Gupta1, Sangeeta Khanna1, Meera Luthra2, Yatin Mehta1
1 Department of Critical Care and Anesthesia, Medanta Hospital, Gurugram, Haryana, India
2 Department of Paediatric Surgery, Medanta Hospital, Gurugram, Haryana, India
|Date of Submission||27-Jul-2018|
|Date of Acceptance||10-Aug-2018|
|Date of Web Publication||15-Nov-2018|
Dr. Rajesh Gupta
A-35, Aashirwad Apartment, Plot No. 11, Sector 12, Dwarka, New Delhi - 110 075
Source of Support: None, Conflict of Interest: None
Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal or mesoectodermal dysplasia, is an autosomal recessive disorder found in the Amish population of Pennsylvania in the USA, with the incidence of 1:244,000 for the general population. The classical syndrome encompasses a tetrad of clinical manifestations, including di sproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia (mainly affecting the teeth, nails, and hair), and congenital heart disease (CHD). Additional involvement may occur in organs of endodermal origin, such as the pulmonary, renal, gastrointestinal (hepatic and pancreatic), hematologic, and central nervous systems. The perioperative care of a 2-year girl who underwent surgical correction of supernumerary digits is presented here.
Keywords: Anesthesia, autosomal recessive, chondroectodermal dysplasia, disorders, dwarfism, Ellis–Van Creveld syndrome, mesoectodermal dysplasia, pediatric, polydactyly
|How to cite this article:|
Gupta R, Khanna S, Luthra M, Mehta Y. Ellis–Van Creveld syndrome and its anesthetic implications. Indian Anaesth Forum 2018;19:85-8
| Introduction|| |
Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal or mesoectodermal dysplasia, is an autosomal recessive disorder found in the Amish population of Pennsylvania in the USA, with the incidence of 1:244,000 for the general population. It is caused by mutation in the EVC gene as well as by a mutation in a nonhomologous gene EV2, located close to the EVC gene in a head-to-head configuration with parental consanguinity in about 30% of cases.,, The classical syndrome encompasses a tetrad of clinical manifestations, including disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia (mainly affecting the teeth, nails, and hair), and congenital heart disease (CHD).,, Patients with EVC have multisystem involvement, and anesthetic care is frequently required during surgical procedures to correct or remove supernumerary digits. Patients may also come for correction of their CHD.
| Case Report|| |
A 2-year-old girl of Turkmenistan origin, having supernumerary digits, presented to us for removal of extra digits as shown in [Figure 1]. Her weight was 10.7 kg and height was 82 cm. Her medical history included the diagnosis of EVC at the age of 4 months when she was evaluated for extra digits in her hands. She was also found with a small ventricular septal defect (VSD) at that time, which closed spontaneously after few months.
When examined in our hospital, physical examination showed postaxial extra digit on both hands and disproportionate dwarfism. Airway examination showed normal mouth opening and normal range of neck movement. She had a history of natal teeth (teeth present at the time of birth). She also had peg teeth as shown in [Figure 2]. There was a fusion between the inner upper lip and gum. On cardiac auscultation, both the heart sounds were normal; there was no murmur.
|Figure 2: Peg teeth and fusion of upper lip to maxillary gingival margin|
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Preoperative chest radiograph was normal. Echo was normal, with normal ventricular contraction, no valve abnormalities, or any septal defect and ejection fraction of 60%. Preoperative laboratory investigations were hemoglobin 14 g/dl, hematocrit 43.6%, and platelet count of 407,000/mm3. Kidney and liver function tests were within normal limits. Coagulation profile was also normal. X-ray of the hands revealed a fusion of the 5th and 6th metacarpals with polydactyly as seen in [Figure 3].
|Figure 3: Polydactyly in both hands, fused bilateral 5th and 6th metacarpals|
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On the day of surgery, the patient was kept fasted according to standard (the American Society of Anesthesiologist) guidelines. In the preoperative room, the patient was premedicated with oral midazolam 0.5 mg/kg and acetaminophen 10 mg/kg. The patient was shifted to the operative room after sedation. Routine standard monitors were placed. After inhalational induction with sevoflurane in 100% oxygen, peripheral (right foot) intravenous access was obtained. The patient was sedated with fentanyl 2 mcg/kg and paralyzed with atracurium 0.5 mg/kg. Laryngeal mask airway size 2 was inserted. Anesthesia was maintained with MAC 1.0 of sevoflurane. Neuromuscular blockade was provided with intermittent dose of atracurium 1 mg.
Surgical duration was 90 min. The patient was reversed with neostigmine 0.5 mg/kg and glycopyrrolate 0.1 mg/kg and extubated in the operative room. Postoperative recovery was uneventful, and pain relief was provided by oral acetaminophen and ibuprofen 10 mg/kg. The patient was discharged home on postoperative day two.
| Discussion|| |
EVS is marked as an autosomal recessive genetic disorder resulting from the heterozygous mutation in one of two EVC genes (EVC1 and EVC2) that are located on the short chromosomal arm at (4p16) with parental consanguinity in about 30% of cases. In our case, there was no history of consanguinity and her 11-year-old male sibling was normal. We got genomic testing done for our patient, and they found homozygous single base pair deletion in exon 12 of the EVC gene (chr4:5785464delc; Depth: ×106) as seen in [Figure 4]. A heterozygous mutation of the EVC locus exists and results in Weyers acrofacial dysostosis, which is an autosomal dominant disorder that shares phenotypic expression with EVC syndrome, including dental anomalies, nail dystrophy, polydactyly, and mild short stature. In our case, disproportionate extremities and polydactyly were seen at the birth time. Epidemiologically, the general occurrence is approximately 1 case/60,000 live births but may range up to 5/1000 live births that are highly prevalent in Amish population of Lancaster Country of Pennsylvania. The diagnosis can be made as early as 18th week of gestation by ultrasonography when the increased nuchal translucency is evident,, and later by clinical examination after birth.,,
Primary characteristic anomalies associated with EVC largely impact perioperative anesthetic care. Congenital heart problems are found prevalent in approximately 50%–60% of patients, which reduces expectancy of life. Failure of endocardial cushion closure results in varying manifestations of an atrioventricular cushion defect that may include some combination of an ostium primum atrial septal defect, VSD, and abnormalities of the mitral valve. Therefore, to delineate the structural anomalies and to evaluate myocardial function preoperative evaluation should include echocardiography or cardiac catheterization. Antibiotic therapy should be given as prophylaxis to prevent subacute bacterial endocarditis in patients with CHD who undergo noncardiac surgery.
Difficult airway can lead to perioperative morbidity. Cleft lip and palate, and dental or oral malformations can lead to difficulty in airway management. Maxillary, mandibular, and frenulae malformations can lead to difficult bag-mask ventilation. A thorough airway examination is highly recommended. In our patient, there was a fusion of upper lip to maxillary gingival margin eliminating the mucolateral sulcus. She also had natal (peg) teeth which are highly prone to dislodgement during airway management. A case is reported in which a congenital neck cyst was present in a patient with EVC syndrome who presented with congenital stridor. Hence, difficult airway trolley should be ready in the operating room.
Patients of EVC may present with abnormalities of thoracic cage, which can cause respiratory problems. High risk of barotrauma is associated with difficulty in mechanical ventilation in thoracic deformities. Bronchial aspiration should be prevented with rapid airway control in thoracic deformities. Thorough preoperative history should be taken in identifying patients a history of chronic respiratory problems or infections. In such patients, identification and treatment of any reversible obstructive component with inhaled Beta-adrenergic agonists, as well as the aggressive postoperative respiratory care with incentive spirometry, may be indicated.
Anesthetic care is impacted by end-organ manifestation including renal and hepatic involvement. Renal anomalies include nephronophthisis, renal medullary dysplasia, and nephrotic syndrome. Patients with renal dysfunction have a higher potential for perioperative complications following cardiopulmonary bypass hence renal function evaluation is highly recommended.
Some studies report end organ hepatic involvement which includes bile duct paucity resulting in paucity of interlobular ducts leading to severe refractory cirrhosis despite medical therapy and indicates an essential hepatic transplantation. Hence, complete liver function tests are recommended in patients with symptoms of liver dysfunction.
Our patient had normal kidney and liver function and a normal preoperative echocardiography. The natal teeth and fused lip to the gums did not cause difficult mask ventilation.
| Conclusion|| |
Patients with EVC syndrome are at an increased risk of adverse events during anesthesia. Most of these patients require multiple surgeries that require anesthesia during their lifetime. Patients with EVC have multisystem involvement such as CHD, abnormal teeth, and deranged biochemical profile. Anesthetic management of these patients includes, a thorough preoperative workup, which includes a good history, physical examination, cardiac evaluation, airway examination, pulmonary examination, laboratory workup, and preoperative optimization of patients, who are in the status of cardiac failure or having dyselectrolytemia or any respiratory infection.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]