Int J Colorectal Dis (2014) 29:771–772 DOI 10.1007/s00384-014-1866-2
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 with abdominal distention for 1 day, with past medical history of diabetes, hypertension, atrial fibrillation, cerebrovascular accident with residual right hemiparesis, and mild expressive aphasia. He reported of having diffuse abdominal distention, feeling nauseated with multiple episodes of non-bilious vomiting. He was afebrile with normal blood pressure. Abdominal exams showed distended abdomen with tympanic note on percussion. Rectal examination revealed emptied rectal vault. Abdominal X-ray showed marked dilatation of sigmoid loop, extending from the pelvis into the right upper quadrant, with coffee-bean appearance. Due to a high suspicion of sigmoid volvulus, immediate rigid sigmoidoscopy was performed. His symptoms were relieved with an expulsion of gas and stool. With a concern for recurrent episode, he was recommended for a definitive surgery. The preoperative workup included 2D-echocardiography, which showed aortic root dilatation of 5.3 cm at the level of sinuses of valsalva, mild aortic regurgitation, and trace mitral regurgitation. Upon detailed physical examination, he was 195-cm tall with an arm span of 208 cm (arm span/height ratio=1.07). The ratio of upper to lower torso was 0.77. His face appeared in a long oval shape (dolichocephaly) with overcrowded teeth, retrognathia, and high-arched palate. There was no ectopic lentis, arachnodactyly, or hind foot deformity observed. The wrist and thumb signs were negative. Otherwise, the patient has skin striae on the chest area and has a history of inguinal hernia and spontaneous right shoulder dislocation. P. Junpaparp (*) : M. Chayanupatkul : S. Buppajarntham : P. Phowthongkum Department of Medicine, Albert Einstein Medical Center, 5501 Old York Road, Philadelphia, PA 19141, USA e-mail: [email protected] M. Chayanupatkul : P. Phowthongkum Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
Patient denied familial history of sudden cardiac arrest or connective tissue disorders. However, he reported one sister with similar facial shape, overcrowded teeth, premature cataract, and 180-cm height. In addition, computerized tomography angiography (CTA) showed aortic root diameter of 4.8 cm without dissection. Cardiology and cardiothoracic surgery were consulted, who agreed not to intervene the aortic finding in this admission, except for starting betablockers. He successfully underwent subtotal colectomy and was later discharged home. Of note, the patient’s colon appeared redundant (total length of 160 cm) with long sigmoid mesentery. Sigmoid volvulus (SV) is defined by torsion of sigmoid colon over its mesentery, causing intestinal obstruction or even ischemia. Due to long meso-colons, sigmoid and cecum are the most common sites for volvulus. The predisposing factors include redundant sigmoid loops with elongated mesentery, elderly, pregnancy, chronic constipation, colonic dysmotility, intra-abdominal adhesion, and Chagas’ disease. The reports on mortality ranged between 14 and 45 %. Most of which were complicated by gangrene, perforation, and sepsis. Clinical manifestations of SV include abdominal pain, nausea, abdominal distension, constipation, and obstipation. The correct diagnosis can be made in 72 and 65 % of cases based on isolated clinical findings and abdominal X-ray, respectively. With combination of clinical findings and X-ray radiograph, the correct diagnosis can be made up to 80 %. Thus, computer tomography and magnetic resonance imaging have role diagnosing in unclear cases. Given the typical presentations and imaging studies, the diagnosis of SV seemed clear in our patient; therefore, immediate endoscopic detorsion was performed. The reports on therapeutic success rate were relatively similar in rigid and flexible sigmoidoscopy [1]. Emergent surgery should only perform in patients with suspected bowel gangrene, perforation, peritonitis, or those who fail non-surgical detorsion. Because of high recurrent rate (60–70 %), definitive surgery with sigmoidectomy is recommended in most cases [2].
772
Our patient has typical Marfanoid habitus, marked aortic root dilatation, and a suspicious family member of having Marfan syndrome (MFS). Based on this clinical data, we consider sufficient for diagnosing MFS, though the diagnosis is not fulfilled the definite MFS by Revised Ghent Nosology. Family assessment and/or genetic tests will help establish the diagnosis and facilitate genetic counseling. MFS is an autosomal dominant disorder. However, 25 % of cases can cause by de novo mutation. Most of mutations locate at the gene encoding fibrillin-1 (FBN1) which is essential for microfibril formation, a major structure in extracellular matrix. Approximately 10 % of cases caused by transforming growth factorbeta (TGF-β) receptor gene mutation, leading to excess activation of TGF-β, a potent stimulator of tissue inflammation. Thus, the pathogenesis of MFS is a combination of structure microfibril abnormalities and excess TGF-β activation causing elastic tissue destruction. MFS can contribute to multiorgan diseases; e.g., aortic diseases (aneurysm, dissection), cardiac diseases (mitral valve prolapsed, aortic regurgitation), musculoskeletal diseases (joint laxity, excess linear growth of long bone), ocular diseases (ectopia lentis, myopia), etc. There were case reports of intestinal obstruction in MFS, caused by malrotation of mid-gut, gastric volvulus, and congenital band. In 1985, McLean et al. described long cecal and sigmoid mesenteries in patient with MFS; however, SV has never been reported [3]. Given the predisposing anatomy, MFS should be considered as a risk factor of SV. Another important issue for our case is the preoperative management for non-cardiac surgery; aortic aneurysm ruptured or dissection is the most common cause of death in MFS, and perioperative stress will further increase the risk of aortic disorders and has very high mortality rate. Thus, multidisciplinary approaches by surgery, anesthesiology, cardiology, and cardiothoracic surgery are essential. Betablockers (BB) should be initiated in all cases unless contraindicated. By reducing myocardial contractility and pulse pressure, it can reduce a shear stress at aortic wall, slow the rate of dilatation, and improve long-term survival. However,
Int J Colorectal Dis (2014) 29:771–772
there is lack of data on its benefit during perioperative period. Recently, Angiotensin II type 1 inhibitor (ARB) (e.g., Losartan) comes into attention due to its inhibiting effect on TGF-β. It showed to rescue aortic root growth in animal model and later confirmed by studies in pediatric population. However, the role of using ARB in addition to BB remains unclear. After diagnosis, the follow-up imaging is recommended every 6–12 months, based on disease progression. Surgical repair is recommended in patient with aortic 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 in MFS patient. Given the laxity of connective tissue as demonstrated in the history of excess growth, inguinal hernia, and spontaneous shoulder dislocation, it is reasonable to think that MFS can create the anatomical risk for SV with elongated and redundant colon and mesentery. However, further observation is required to confirm the potential relationship between these two conditions.
References 1. Retraction (2009) Clinical presentation and diagnosis of sigmoid volvulus: outcomes of 40-year and 859-patient experience. J Gastroenterol Hepatol 24(6):1154 2. Atamanalp SS (2013) Treatment of sigmoid volvulus: a single-center experience of 952 patients over 46.5 years. Tech Coloproctol 17(5): 561–569 3. Thomas GP et al (2008) General surgical manifestations of Marfan’s syndrome. 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 management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 121(13):e266–e369
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 with abdominal distention for 1 day, with past medical history of diabetes, hypertension, atrial fibrillation, cerebrovascular accident with residual right hemiparesis, and mild expressive aphasia. He reported of having diffuse abdominal distention, feeling nauseated with multiple episodes of non-bilious vomiting. He was afebrile with normal blood pressure. Abdominal exams showed distended abdomen with tympanic note on percussion. Rectal examination revealed emptied rectal vault. Abdominal X-ray showed marked dilatation of sigmoid loop, extending from the pelvis into the right upper quadrant, with coffee-bean appearance. Due to a high suspicion of sigmoid volvulus, immediate rigid sigmoidoscopy was performed. His symptoms were relieved with an expulsion of gas and stool. With a concern for recurrent episode, he was recommended for a definitive surgery. The preoperative workup included 2D-echocardiography, which showed aortic root dilatation of 5.3 cm at the level of sinuses of valsalva, mild aortic regurgitation, and trace mitral regurgitation. Upon detailed physical examination, he was 195-cm tall with an arm span of 208 cm (arm span/height ratio=1.07). The ratio of upper to lower torso was 0.77. His face appeared in a long oval shape (dolichocephaly) with overcrowded teeth, retrognathia, and high-arched palate. There was no ectopic lentis, arachnodactyly, or hind foot deformity observed. The wrist and thumb signs were negative. Otherwise, the patient has skin striae on the chest area and has a history of inguinal hernia and spontaneous right shoulder dislocation. P. Junpaparp (*) : M. Chayanupatkul : S. Buppajarntham : P. Phowthongkum Department of Medicine, Albert Einstein Medical Center, 5501 Old York Road, Philadelphia, PA 19141, USA e-mail: [email protected] M. Chayanupatkul : P. Phowthongkum Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
Patient denied familial history of sudden cardiac arrest or connective tissue disorders. However, he reported one sister with similar facial shape, overcrowded teeth, premature cataract, and 180-cm height. In addition, computerized tomography angiography (CTA) showed aortic root diameter of 4.8 cm without dissection. Cardiology and cardiothoracic surgery were consulted, who agreed not to intervene the aortic finding in this admission, except for starting betablockers. He successfully underwent subtotal colectomy and was later discharged home. Of note, the patient’s colon appeared redundant (total length of 160 cm) with long sigmoid mesentery. Sigmoid volvulus (SV) is defined by torsion of sigmoid colon over its mesentery, causing intestinal obstruction or even ischemia. Due to long meso-colons, sigmoid and cecum are the most common sites for volvulus. The predisposing factors include redundant sigmoid loops with elongated mesentery, elderly, pregnancy, chronic constipation, colonic dysmotility, intra-abdominal adhesion, and Chagas’ disease. The reports on mortality ranged between 14 and 45 %. Most of which were complicated by gangrene, perforation, and sepsis. Clinical manifestations of SV include abdominal pain, nausea, abdominal distension, constipation, and obstipation. The correct diagnosis can be made in 72 and 65 % of cases based on isolated clinical findings and abdominal X-ray, respectively. With combination of clinical findings and X-ray radiograph, the correct diagnosis can be made up to 80 %. Thus, computer tomography and magnetic resonance imaging have role diagnosing in unclear cases. Given the typical presentations and imaging studies, the diagnosis of SV seemed clear in our patient; therefore, immediate endoscopic detorsion was performed. The reports on therapeutic success rate were relatively similar in rigid and flexible sigmoidoscopy [1]. Emergent surgery should only perform in patients with suspected bowel gangrene, perforation, peritonitis, or those who fail non-surgical detorsion. Because of high recurrent rate (60–70 %), definitive surgery with sigmoidectomy is recommended in most cases [2].
772
Our patient has typical Marfanoid habitus, marked aortic root dilatation, and a suspicious family member of having Marfan syndrome (MFS). Based on this clinical data, we consider sufficient for diagnosing MFS, though the diagnosis is not fulfilled the definite MFS by Revised Ghent Nosology. Family assessment and/or genetic tests will help establish the diagnosis and facilitate genetic counseling. MFS is an autosomal dominant disorder. However, 25 % of cases can cause by de novo mutation. Most of mutations locate at the gene encoding fibrillin-1 (FBN1) which is essential for microfibril formation, a major structure in extracellular matrix. Approximately 10 % of cases caused by transforming growth factorbeta (TGF-β) receptor gene mutation, leading to excess activation of TGF-β, a potent stimulator of tissue inflammation. Thus, the pathogenesis of MFS is a combination of structure microfibril abnormalities and excess TGF-β activation causing elastic tissue destruction. MFS can contribute to multiorgan diseases; e.g., aortic diseases (aneurysm, dissection), cardiac diseases (mitral valve prolapsed, aortic regurgitation), musculoskeletal diseases (joint laxity, excess linear growth of long bone), ocular diseases (ectopia lentis, myopia), etc. There were case reports of intestinal obstruction in MFS, caused by malrotation of mid-gut, gastric volvulus, and congenital band. In 1985, McLean et al. described long cecal and sigmoid mesenteries in patient with MFS; however, SV has never been reported [3]. Given the predisposing anatomy, MFS should be considered as a risk factor of SV. Another important issue for our case is the preoperative management for non-cardiac surgery; aortic aneurysm ruptured or dissection is the most common cause of death in MFS, and perioperative stress will further increase the risk of aortic disorders and has very high mortality rate. Thus, multidisciplinary approaches by surgery, anesthesiology, cardiology, and cardiothoracic surgery are essential. Betablockers (BB) should be initiated in all cases unless contraindicated. By reducing myocardial contractility and pulse pressure, it can reduce a shear stress at aortic wall, slow the rate of dilatation, and improve long-term survival. However,
Int J Colorectal Dis (2014) 29:771–772
there is lack of data on its benefit during perioperative period. Recently, Angiotensin II type 1 inhibitor (ARB) (e.g., Losartan) comes into attention due to its inhibiting effect on TGF-β. It showed to rescue aortic root growth in animal model and later confirmed by studies in pediatric population. However, the role of using ARB in addition to BB remains unclear. After diagnosis, the follow-up imaging is recommended every 6–12 months, based on disease progression. Surgical repair is recommended in patient with aortic 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 in MFS patient. Given the laxity of connective tissue as demonstrated in the history of excess growth, inguinal hernia, and spontaneous shoulder dislocation, it is reasonable to think that MFS can create the anatomical risk for SV with elongated and redundant colon and mesentery. However, further observation is required to confirm the potential relationship between these two conditions.
References 1. Retraction (2009) Clinical presentation and diagnosis of sigmoid volvulus: outcomes of 40-year and 859-patient experience. J Gastroenterol Hepatol 24(6):1154 2. Atamanalp SS (2013) Treatment of sigmoid volvulus: a single-center experience of 952 patients over 46.5 years. Tech Coloproctol 17(5): 561–569 3. Thomas GP et al (2008) General surgical manifestations of Marfan’s syndrome. 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 management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 121(13):e266–e369
