INDIAN JOURNAL OF ANAESTHESIA, JUNE 2003222Indian J. Anaesth. 2003; 47 (3) : 222-224

ANAESTHESIA AND MARFAN’S SYNDROMEDr. Swati R. Daftary1 Dr. Anju John2 Dr. S. R. Jagtap3

SUMMARYA young girl with Marfan’s syndrome underwent surgery for retinal detachment. She had severe kyphoscoliosis with lung function 42%of predicted and large ventricular septal defect (VSD). She was on ACE inhibitor. We describe management of anaesthesia and surgeryrelated complications in her.Keywords : Marfan’s Syndrome with VSD, Retinal detachment surgery, Oculocardiac reflex.

1. MD., Associate Professor2. MBBS., Resident3. MD., Professor

Department of Anaesthesia, LTM Medical College & HospitalSion West, Mumbai 400 022.Correspond to :Dr. Swati R. Daftary1/262, Ashirwad, Dr. Annie Besant Road,Prabhadevi, Mumbai 400 025.Email : srdaftary@yahoo.com Tele: 022 4379369.

This condition was first described by Marfan in1896. It is a connective tissue disorder characterized bydefective fibrillin. The incidence of Marfan’s syndromeis 1:10,000. Approximately 1/4th of cases arise by newmutation and the rest are inherited from a parent as anautosomal dominant trait.1 The potential for acutecardiovascular and respiratory complications necessitatescareful preoperative assessment combined with skilfulanaesthetic techniques in these patients.

Case reportWe recently anaesthetised a 16-year-old girl

weighing 30kg and 145cm in height for retinal detachmentsurgery, who demonstrated a full gamut of ‘hard’manifestations and ‘soft’ features of classic Marfansyndrome (Table).1 She presented with diminished visionin right eye since 20 days, and occasional palpitation onroutine work. She was diagnosed as a case of congenitalheart disease at the age of 3 months. There was historyof nasal twang and nasal regurgitation of liquids fromchildhood. There was increase in chest and back deformitysince the age of 8 years. Patient was diagnosed as a caseof classic Marfan’s syndrome at the age of 12 years.

On examination, pulse was regular, 82min-1; BPwas 110/70 mmHg. Air entry was reduced in left middleand lower zone. Pan systolic murmur was heard in leftparasternal region and aortic area had a diastolic murmur.Blood chemistry and haematocrit values were normal.X-ray chest showed scoliosis of thoracic spine to the rightwith crowding of ribs on the left. Cobb’s angle was

Table : Features of marfans syndrome

System Major Criteria Minor criteria

Skeletal 1) pectus carinatum 1) pectus excavatum ofsystem moderate servity

2) pectus excavatum requiring sx 2) joint hypemobility3) decreased upper : 3) High arched palate

lower segment ratio with crowding of teeth4) Wrist nd thumb signs 4) Facial appearance :5) Scoliosis>20% spondylolisthesis Dolicocephaly6) Reduced extension at elbow <170 Malar hypoplasia7) Pes planus and Protrusio acetabuli Enophthalmos

RetrograthiaDown slanting palpebral fissure

Occular Ectopia Lentis 1) KeratoplanusSigns 2) Increased global

axial length3) Hypoplastic iris/

hypoplastic ciliarymuscle and decreasedmiosis

Cardio- 1) Dialation of ascending aorta 1) MVP with / without MRvascular with/without AR with 2) Dilatation ofSystem involvement of Sinus of pulmonary artery

Valsalva / Dissection of aorta 3) Calcification of mitralannulus

4) Dilatation / Dissection ofdescending thoracic /abdominal aorta

Pulmonary None 1) Spontenous pneumothoraxSystem and apical blebs

Skin & None 1) Striae atrophicaeIntegument

Dura Lumbosacral dural ectasia Nonediagnosis : CT & MRI

Family & Presence of diagnostic criteria in NoneGenetic parent / child / siblingHistory Presence of mutation / haplotype

in FBN

85°(Fig.1). ECG showed T inversion in lead III & V1.2D ECHO showed large sub aortic VSD with L®R shuntand gradient of 96mm of Hg. Aortic root was grosslydilated with dilated aortic annulus with ± ruptured sinus

222

SWATI, ANJU, JAGTAP : MARFAN’S SYNDROME AND ANAESTHESIA 223

of valsalva. Associated findings were mild AR, mild TR,mild PH and LVEF of 60%. PFT showed moderaterestriction with obstruction and no reversibility withbronchodilator. ABG values were normal. Our patientwas on tab Enalapril 2.5mg OD.

Fig. 1Patient received antibiotic prophylaxis and tab.

Diazepam 5mg as nighttime sedation. On the day ofsurgery, she was premedicated with tab. Diazepam 5mgand tab. Enalapril 2.5mg. Cardioscope, pulse oximeter,NIBP monitor and precordial stethoscope were used tomonitor the patient. Peripheral IV line was secured with20G angiocath. Anaesthesia was induced with inj. Fentanyl25mgm and inj. Midazolam 0.5mg IV followed by inj.Thiopentone Na 150mg and inj. Vecuronium 3mg. Patientwas gently ventilated with 0.5% Halothane in 50:50 O2& N2O. At the end of 3 minutes, Portex soft seal cuffedtracheal tube of 6.5mm was passed. Intraoperative tractionon the extra ocular muscles caused activation of oculocardiac reflex (OCR) twice, with resultant bradycardiaand ventricular bigemini. This responded to 100% O2 andreleasing the traction. On second occasion IV injection ofGlycopyrrolate was needed. For postoperative nauseavomiting and pain, Ondansetron 4mg and Tramadol 25mg were given intravenously. Patient was reversed withGlycopyrrolate and Neostigmine and extubated. She wasshifted to PACU for further observation. On the 5th

postoperative day she went home with improved vision inthe right eye.

DiscussionThe diagnosis of classic Marfan’s syndrome is based

on presence of major criteria in at least two organ systemsand involvement of a third organ system in absence of

positive family history.1 This is necessary because of thevariability in expression in the disease and its variants.

Majority of Marfan’s syndrome patients are on bblocker to slow the aortic dilatation by its negativeinotropic and chronotropic effects.2 It also has a beneficialeffect in mitral valve prolapse (MVP) which is present in80% patients of Marfan’s syndrome.3 Our patient did nothave MVP but had mild AR, reducing the heart rate withb blocker in her would have been detrimental. Instead,our patient was on ACE inhibitor, which plays a favourablerole in vascular smooth muscle cell growth. This in turnprevents cystic medial degeneration,4 which is responsiblefor cardiovascular catastrophes in Marfan’s syndrome. Inaddition, Enalapril reduces left ventricular contractionvelocity and hence was the ideal drug in our patient.

Our patient had a large sub aortic VSD which isunusual but reported in literature.5 In 5% of patients withsevere pectus excavatum, a technically satisfactoryechocardiogram is unobtainable.6 In our patient, this maybe the reason for not getting the exact size of the aorticroot on 2D ECHO. Knowing the exact dimension ofaortic root is important, as incidence of aortic dissectionand rupture markedly increases after diameter³ 6cm inadults.6

Estrogen therapy has been suggested in young girlswith Marfan’s syndrome to limit the adolescent growthspurt and subsequently to reduce the progress of chestand spine deformity and body height.6 Our patient did notreceive it. Inspite of very severe kyphoscoliosis (Cobb’sangle=850), patient was relatively symptom free as sheused to do nonsternous activities. Spontaneouspneumothorax may also occur in these patients because ofcongenital lung abnormalities.6

Our patient had normal dentition and high archedpalate with absent uvula, which may explain nasal twangand nasal regurgitation of liquids. Severe TM jointosteoarthritis and dysfunction7 along with cervical bonyand ligamentous abnormalities8 do occur in Marfan’ssyndrome, although difficult intubation and neurologicalinjuries are rare.

The increased axial length of the globe contributedto high myopia (right–5.5, left–8.5) and retinal detachment9in our patient. She underwent scleral buckling surgery,during which frequent and extensive traction on extraocular muscles activated the OCR on two occasions. IVglycopyrrolate was preferred for treatment as it producesless tachycardia.10 Activation of OCR can be avoided byadequate depth of anaesthesia, normocarbia, gentlenessof surgical manipulation and lignocaine infiltration into

INDIAN JOURNAL OF ANAESTHESIA, JUNE 2003224

the eye muscle.9 OCR, postoperative pain and PONVneeds special attention in this surgery.9

In classic Marfan’s syndrome, average lifeexpectancy is halved; in over 95% of cases, the cause ofdeath is a cardiovascular catastrophe.5 These patientsusually tolerate anaesthesia and surgery well; yet, carefulpreoperative assessment and skillful anaesthetic techniqueare very important. Halothane, which reduces the velocityof left ventricular contraction, is a preferred agent3,11,12 incombination with Fentanyl and Midazolam to control BPand sudden increase in myocardial contractility to avoidpotentially fatal complications.

In female patients, one is confronted by 50% riskof genetic transmission and risk of vascular rupture duringpregnancy.5 This emphasizes the need of ongoing physicaland psychological assessment and counselling in thesepatients.

References1. Guidelines of the American Academy of Pediatrics for Marfan

syndrome. Pediatrics 1996; Nov 98(5): 978-82.2. Jennifer Shores, Kenneth R Burger, Edmond A Murphy and

Reed E Pyeritz. Progression of aortic dilatation and the benefitof long-term b-adrenergic blockade in Marfan’s syndrome. NEng J Med 1994; May 12: 330(19): 1335-41.

3. A D Malde, S R Jagtap, S H Pantvaidya. Anaestheticconsiderations in a patient with Marfan’s syndrome and Mitralvalve prolapse (A case report). Ind J Anaesth 1995; 43:68-71.

4. Nagashima H, Sakomura Y, Aoka Y, Uto K et al. AngiotensinII type 2 receptor mediates vascular smooth muscle cell

apoptosis in cystic medial degeneration associatedwith Marfan’s syndrome. Circulation 2001; Sep 18: 104(12 suppl 1): 1282-7.

5. Nazar Luqman Bilgrami, S G Tiwari, Mohd. Aslam and Z AKhan. Marfan syndrome with Microcornea, Aphakia andVentricular septal defect. Indian Heart J 1981; Mar-Apr, 33(2):78-80.

6. Reed E Pyeritz and Victor A Mckusick. The Marfan syndrome:Diagnosis and Management. N Engl J Med 1979; 300: 772-7.

7. John V Donlon. Eye diseases Specific considerations: Marfan’ssyndrome. In: Jonathan L Benumof eds. Anesthesia &Uncommon Diseases, fourth edition Philadelphia: Saunders,1998; 39-40.

8. Hobbs W R, Sponseller P D, Weiss A P, Pyeritz R E. Thecervical spine in Marfan syndrome. Spine 1997 May 1; 22(9):983-9.

9. Benjamin Chang and Yale L Fisher. Anesthesia in vitreoretinalsurgery. In: Scott Greenbaum eds. Ocular Anesthesia,Philadelphia: Saunders, 1997; 173-9.

10. Mirakhur R K, Jones C J, Dundee J W et al. IM or IVatropine or glycopyrrolate for prevention of oculocardiac reflexin children during squint surgery. Br J Anaesth 1982; 54:1059.

11. Shannon M Rivenes, Mark B Lewin, Stephen A Stayer, SabrinaT Bent et al. Cardiovascular Effects of Sevoflurane, Isoflurane,Halothane, and Fentanyl-Midazolam in children withCongenital Heart Disease: An Echocardiographic Study ofMyocardial Contractility and Hemodynamics. Anesthesiology2001; 94: 223-9.

12. Douglas G Wells and Walter Podolakin. Anaesthesia andMarfan’s syndrome: case report Can J Anaesth 1987; 34: 3311-4.

ANNOUNCEMENTSu The Indian Journal of Anaesthesia has been indexed with INDEX MEDICUS FOR WHO

SOUTH-EAST ASIA REGION (IMSEAR).u For adequate publicity and dissemination of Indian Biomedical Research Indian Medlars

Centre of National Informatics Centre (NIC) has indexed Indian Journal of Anaesthesia inIndMED.

u Readers will be delighted to note that Indian Journal of Anaesthesia is being disseminatedthrough Internet by NIC. This great leap forward heralds a new era for Indian Journal ofAnaesthesia even before we welcome the millennium. Access to our journal of internet willbe at the website.

http://indmed.delhi.nic.in.

- Editor