LETTER TO THE EDITOR

Sigmoid volvulus: is it related to Marfan syndrome?

Parichart Junpaparp & Maneerat Chayanupatkul &Saranya Buppajarntham & Prasit Phowthongkum

Accepted: 2 April 2014 /Published online: 22 April 2014# Springer-Verlag Berlin Heidelberg 2014

To the Editor,We report a case of a 65-year-old male, who presented withabdominal distention for 1 day, with past medical history ofdiabetes, hypertension, atrial fibrillation, cerebrovascular ac-cident with residual right hemiparesis, and mild expressiveaphasia. He reported of having diffuse abdominal distention,feeling nauseated with multiple episodes of non-biliousvomiting. He was afebrile with normal blood pressure. Ab-dominal exams showed distended abdomen with tympanicnote on percussion. Rectal examination revealed emptiedrectal vault. Abdominal X-ray showed marked dilatation ofsigmoid loop, extending from the pelvis into the right upperquadrant, with coffee-bean appearance. Due to a high suspi-cion of sigmoid volvulus, immediate rigid sigmoidoscopy wasperformed. His symptoms were relieved with an expulsion ofgas and stool. With a concern for recurrent episode, he wasrecommended for a definitive surgery. The preoperative work-up included 2D-echocardiography, which showed aortic rootdilatation of 5.3 cm at the level of sinuses of valsalva, mildaortic regurgitation, and trace mitral regurgitation. Upon de-tailed physical examination, he was 195-cm tall with an armspan of 208 cm (arm span/height ratio=1.07). The ratio ofupper to lower torso was 0.77. His face appeared in a long ovalshape (dolichocephaly) with overcrowded teeth, retrognathia,and high-arched palate. There was no ectopic lentis,arachnodactyly, or hind foot deformity observed. The wristand thumb signs were negative. Otherwise, the patient hasskin striae on the chest area and has a history of inguinalhernia and spontaneous right shoulder dislocation.

Patient denied familial history of sudden cardiac arrest orconnective tissue disorders. However, he reported one sisterwith similar facial shape, overcrowded teeth, prematurecataract, and 180-cm height. In addition, computerizedtomography angiography (CTA) showed aortic root diame-ter of 4.8 cm without dissection. Cardiology and cardiotho-racic surgery were consulted, who agreed not to intervenethe aortic finding in this admission, except for starting beta-blockers. He successfully underwent subtotal colectomyand was later discharged home. Of note, the patient’s colonappeared redundant (total length of 160 cm) with longsigmoid mesentery.

Sigmoid volvulus (SV) is defined by torsion of sigmoidcolon over its mesentery, causing intestinal obstruction oreven ischemia. Due to long meso-colons, sigmoid and cecumare the most common sites for volvulus. The predisposingfactors include redundant sigmoid loops with elongated mes-entery, elderly, pregnancy, chronic constipation, colonicdysmotility, intra-abdominal adhesion, and Chagas’ disease.The reports on mortality ranged between 14 and 45 %. Mostof which were complicated by gangrene, perforation, andsepsis. Clinical manifestations of SV include abdominal pain,nausea, abdominal distension, constipation, and obstipation.The correct diagnosis can be made in 72 and 65 % of casesbased on isolated clinical findings and abdominal X-ray, re-spectively. With combination of clinical findings and X-rayradiograph, the correct diagnosis can be made up to 80 %.Thus, computer tomography and magnetic resonance imaginghave role diagnosing in unclear cases. Given the typical pre-sentations and imaging studies, the diagnosis of SV seemedclear in our patient; therefore, immediate endoscopic detorsionwas performed. The reports on therapeutic success rate wererelatively similar in rigid and flexible sigmoidoscopy [1].Emergent surgery should only perform in patients withsuspected bowel gangrene, perforation, peritonitis, or thosewho fail non-surgical detorsion. Because of high recurrent rate(60–70 %), definitive surgery with sigmoidectomy is recom-mended in most cases [2].

P. Junpaparp (*) :M. Chayanupatkul : S. Buppajarntham :P. PhowthongkumDepartment of Medicine, Albert Einstein Medical Center,5501 Old York Road, Philadelphia, PA 19141, USAe-mail: junpapap@einstein.edu

M. Chayanupatkul : P. PhowthongkumDepartment of Medicine, Faculty of Medicine,Chulalongkorn University, Bangkok, Thailand

Int J Colorectal Dis (2014) 29:771–772DOI 10.1007/s00384-014-1866-2

Our patient has typical Marfanoid habitus, marked aorticroot dilatation, and a suspicious family member of havingMarfan syndrome (MFS). Based on this clinical data, weconsider sufficient for diagnosing MFS, though the diagnosisis not fulfilled the definite MFS by Revised Ghent Nosology.Family assessment and/or genetic tests will help establish thediagnosis and facilitate genetic counseling. MFS is an auto-somal dominant disorder. However, 25 % of cases can causeby de novo mutation. Most of mutations locate at the geneencoding fibrillin-1 (FBN1) which is essential for microfibrilformation, a major structure in extracellular matrix. Approx-imately 10 % of cases caused by transforming growth factor-beta (TGF-β) receptor gene mutation, leading to excess acti-vation of TGF-β, a potent stimulator of tissue inflammation.Thus, the pathogenesis of MFS is a combination of structuremicrofibril abnormalities and excess TGF-β activation caus-ing elastic tissue destruction. MFS can contribute to multi-organ diseases; e.g., aortic diseases (aneurysm, dissection),cardiac diseases (mitral valve prolapsed, aortic regurgitation),musculoskeletal diseases (joint laxity, excess linear growth oflong bone), ocular diseases (ectopia lentis, myopia), etc. Therewere case reports of intestinal obstruction in MFS, caused bymalrotation of mid-gut, gastric volvulus, and congenital band.In 1985, McLean et al. described long cecal and sigmoidmesenteries in patient with MFS; however, SV has never beenreported [3]. Given the predisposing anatomy, MFS should beconsidered as a risk factor of SV.

Another important issue for our case is the preoperativemanagement for non-cardiac surgery; aortic aneurysm rup-tured or dissection is the most common cause of death inMFS, and perioperative stress will further increase the riskof aortic disorders and has very high mortality rate. Thus,multidisciplinary approaches by surgery, anesthesiology,cardiology, and cardiothoracic surgery are essential. Beta-blockers (BB) should be initiated in all cases unless con-traindicated. By reducing myocardial contractility and pulsepressure, it can reduce a shear stress at aortic wall, slow therate of dilatation, and improve long-term survival. However,

there is lack of data on its benefit during perioperativeperiod. Recently, Angiotensin II type 1 inhibitor (ARB)(e.g., Losartan) comes into attention due to its inhibitingeffect on TGF-β. It showed to rescue aortic root growth inanimal model and later confirmed by studies in pediatricpopulation. However, the role of using ARB in addition toBB remains unclear. After diagnosis, the follow-up imagingis recommended every 6–12 months, based on diseaseprogression. Surgical repair is recommended in patient withaortic root diameter >5 cm, rapid aortic growth (>0.5 cm/year),or significant aortic regurgitation [4].

To the best of knowledge, this is the first report of SV inMFS patient. Given the laxity of connective tissue as demon-strated in the history of excess growth, inguinal hernia, andspontaneous shoulder dislocation, it is reasonable to think thatMFS can create the anatomical risk for SV with elongated andredundant colon and mesentery. However, further observationis required to confirm the potential relationship between thesetwo conditions.

References

1. Retraction (2009) Clinical presentation and diagnosis of sigmoid vol-vulus: outcomes of 40-year and 859-patient experience. J GastroenterolHepatol 24(6):1154

2. Atamanalp SS (2013) Treatment of sigmoid volvulus: a single-centerexperience of 952 patients over 46.5 years. Tech Coloproctol 17(5):561–569

3. Thomas GP et al (2008) General surgical manifestations of Marfan’ssyndrome. Br J Hosp Med (Lond) 69(5):270–274

4. Hiratzka LF et al (2010) 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and managementof patients with Thoracic Aortic Disease: a report of the AmericanCollege of Cardiology Foundation/American Heart AssociationTask Force on Practice Guidelines, American Association forThoracic Surgery, American College of Radiology, AmericanStroke Association, Society of Cardiovascular Anesthesiologists,Society for Cardiovascular Angiography and Interventions, Societyof Interventional Radiology, Society of Thoracic Surgeons, andSociety for Vascular Medicine. Circulation 121(13):e266–e369

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