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Iliac artery aneurysm in Marfan's Syndrome
E~] VaseSurg 4, 323-324 (1990)
Iliac Artery Aneurysm in Marfan's Syndrome Paul V. Flanagan, Justin Geoghegan and T. J. Egan Department of Surgery, Regional Hospital, Dooradoyle, Limerick, Ireland A case ofiliac artery aneurysm in a young male patient with Marfan's Syndrome is described. The aneurysm was managed by a simple exclusion technique. The occurrence of such an aneurysm suggests that the inherent mural weakness in the syndrome is more widespread in the arterial tree than is generally appreciated. The association of iliac artery aneurysm and Marfan' s Syndrome does not seem to have been previously reported. Key Words: IIiac Aneurysm; Marfan' s Syndrome.
Introduction Marfan's Syndrome is a rare, hereditary, metabolic disorder affecting the cardiovascular, musculoskeletal and ocular systems. It is classically expressed in the combination of aortic root dilatation, arachnodactyly and ocular lens dislocation. 1 Incomplete expression in the form of isolated cardiovascular or ocular abnormalities in a young person may suggest diagnosis. The most serious complication of the syndrome is structural failure in the proximal aorta leading to aortic valve incompetence or a dissecting aneurysm. Abdominal aortic aneurysm is a rare manifestation of the syndrome and more than 20 such cases have been reported. 2'3'4 However, the occurence of an aneurysm distal to the aorta in the syndrome does not seem to have been previously reported. The possibility of widespread arterial change, highlighted by this case, suggests the need for surveillance of the peripheral arterial system in patients with the syndrome.
Case Report A 37-year-old hypertensive male patient, with a four Please address all correspondenceto: T. J. Egan, at the above address. 0950-821X/90/030323~- 02 $03.00/0 © 1990 Grune &Stratton Ltd
m o n t h history of lower abdominal pain, presented with a tender pulsatile mass in the right lower quadrant of the abdomen. He was a known case of Marfan's Syndrome who had six previous admissions for surgical management of bilateral lens dislocation and retinal detachment. Arachnodactyly, with high metacarpal indices (9.6 right, 9.3 left) and a crown-pubis to crown-heel ratio of 0.85 were noted. None of the patient's six siblings and no traceable relative exhibited any features of the syndrome. Abdominal ultrasound examination showed a 10 cm aneurysm involving the right iliac arteries (Fig. 1). Echocardiography revealed aortic root dilatation with a structurally intact valve. Urinary amino-acid screen demonstrated elevated lysine excretion but no evidence of homocystinuria or increased hydroxyprolene excretion. The patient was a disability pensioner having undergone right hip disarticulation for trauma eleven years previously. Abdominal exploration was undertaken as soon as preliminary investigations had been completed. A large aneurysm involving the right common, external and internal iliac arteries was found. In view of the previous amputation preservation of the right limb vasculature was not required. The aneurysm was simply dealt with b y dividing the common iliac artery at its origin and oversewing the ends. This effectively abolished pulsation in the sac. After
324
P.V. Flanagan e t a l .
Fig. 1. Ultrasound view of the abdomen showing right iliac aneurysm.
o p e r a t i o n t h e p a t i e n t developed a n episode of p a i n a n d tenderness at the site of t h e a n e u r y s m . This was t h o u g h t to r e p r e s e n t a possible leak from t h e excluded sac. H o w ever, his s y m p t o m s a n d signs settled v e r y quickly. He also developed deep vein t h r o m b o s i s in the left lower limb a n d required a n t i c o a g u l a n t t h e r a p y for this. S u b s e q u e n t l y the a n e u r y s m sac b e c a m e firm a n d d i m i n i s h e d rapidly in size. One y e a r after o p e r a t i o n it w a s impalpable.
Discussion A l t h o u g h 8 5% of cases of M a r f a n ' s S y n d r o m e are familial a n d h a v e a n a u t o s o m a l d o m i n a n t p a t t e r n of t r a n s mission t h e r e m a i n d e r are sporadic a n d t h o u g h t to arise from n e w m u t a t i o n s . The case described p r o b a b l y belongs to t h e latter group. Because of the low incidence a n d the wide v a r i a t i o n of expression, the specific m e t a b o l i c defect is u n k n o w n . Defective c o l l a g e n cross-linkage, w i t h or w i t h o u t impaired elastin r e g e n e r a t i o n , m a y result from i m p a i r e d lysine oxidase function. 56' Elevated u r i n a r y lysine excretion w a s n o t e d in o u r p a t i e n t b u t the precise significance of this is n o t evident from a p p r a i s a l of t h e literature. It h a s b e e n s u g g e s t e d t h a t the incidence of a b d o m inal aortic a n e u r y s m in a s s o c i a t i o n w i t h M a r f a n ' s is ext r e m e l y low. The r e a s o n s p r o p o s e d for this h a v e i n c l u d e d a h i g h early d e a t h r a t e from p r o x i m a l d i l a t a t i o n a n d dis-
EurJ Vasc Surg Vol 4, June 1990
section, a s e c o n d a r y protective effect of p r o x i m a l dilat a t i o n o n the distal v a s c u l a t u r e a n d the l o w e r elastin cont e n t a n d smaller d i a m e t e r of the a b d o m i n a l a o r t a a n d distal vessels. 3 The d e v e l o p m e n t of a n extensive iliac a n e u r y s m in this p a t i e n t suggests t h a t the basic s t r u c t u r a l w e a k n e s s m a y be m o r e widely distributed in t h e a r t e r i a l tree wall t h a n is g e n e r a l l y appreciated. Possibly the p r o l o n g a t i o n of life in M a r f a n p a t i e n t s by m o d e r n surgical techniques, w h i c h correct the p r o x i m a l aortic fault, will witness the m o r e frequent p r e s e n t a t i o n of p e r i p h e r a l a n e u r y s m s in these patients.
References 1 Hirst AE, Gore I. Marfan's Syndrome: A Review. Prog Cardiovasc Dis, 1973;16:187. 2 Yu SC. Marfan's Syndrome with Spontaneous Pneumothorax and Abdominal Aortic Aneurysm. Int Surg, 1976; 61 : 30-31. 3 MoI-mR, ADARR, RUBENSTBINZ. Multiple Aortic Aneurysms in Marfan's Syndrome, J Cardiovasc Surg, 1984:25 : 566-571. 4 HOUSTONHE, Abdominal Aortic Aneurysm in Marfan's Syndrome. J Kentucky M ed Assoc, 1978 ;25: 567-570. 5 Mc KUSICKVA. Heritable Disorders of Connective Tissue. 4th ed, St. Louis: Mosby, 1972;61-223. 6 PEREJDA AJ, ABRAHAMPA, CARNESWH, COULSONWF, UITTOJ, Marfan's Syndrome: Structural, Biochemical and Mechanical Studies of the Aortic Media. J Lab Clin Med, 1985 ; 106 : 376-383. Accepted 2 September 1988
Iliac Artery Aneurysm in Marfan's Syndrome Paul V. Flanagan, Justin Geoghegan and T. J. Egan Department of Surgery, Regional Hospital, Dooradoyle, Limerick, Ireland A case ofiliac artery aneurysm in a young male patient with Marfan's Syndrome is described. The aneurysm was managed by a simple exclusion technique. The occurrence of such an aneurysm suggests that the inherent mural weakness in the syndrome is more widespread in the arterial tree than is generally appreciated. The association of iliac artery aneurysm and Marfan' s Syndrome does not seem to have been previously reported. Key Words: IIiac Aneurysm; Marfan' s Syndrome.
Introduction Marfan's Syndrome is a rare, hereditary, metabolic disorder affecting the cardiovascular, musculoskeletal and ocular systems. It is classically expressed in the combination of aortic root dilatation, arachnodactyly and ocular lens dislocation. 1 Incomplete expression in the form of isolated cardiovascular or ocular abnormalities in a young person may suggest diagnosis. The most serious complication of the syndrome is structural failure in the proximal aorta leading to aortic valve incompetence or a dissecting aneurysm. Abdominal aortic aneurysm is a rare manifestation of the syndrome and more than 20 such cases have been reported. 2'3'4 However, the occurence of an aneurysm distal to the aorta in the syndrome does not seem to have been previously reported. The possibility of widespread arterial change, highlighted by this case, suggests the need for surveillance of the peripheral arterial system in patients with the syndrome.
Case Report A 37-year-old hypertensive male patient, with a four Please address all correspondenceto: T. J. Egan, at the above address. 0950-821X/90/030323~- 02 $03.00/0 © 1990 Grune &Stratton Ltd
m o n t h history of lower abdominal pain, presented with a tender pulsatile mass in the right lower quadrant of the abdomen. He was a known case of Marfan's Syndrome who had six previous admissions for surgical management of bilateral lens dislocation and retinal detachment. Arachnodactyly, with high metacarpal indices (9.6 right, 9.3 left) and a crown-pubis to crown-heel ratio of 0.85 were noted. None of the patient's six siblings and no traceable relative exhibited any features of the syndrome. Abdominal ultrasound examination showed a 10 cm aneurysm involving the right iliac arteries (Fig. 1). Echocardiography revealed aortic root dilatation with a structurally intact valve. Urinary amino-acid screen demonstrated elevated lysine excretion but no evidence of homocystinuria or increased hydroxyprolene excretion. The patient was a disability pensioner having undergone right hip disarticulation for trauma eleven years previously. Abdominal exploration was undertaken as soon as preliminary investigations had been completed. A large aneurysm involving the right common, external and internal iliac arteries was found. In view of the previous amputation preservation of the right limb vasculature was not required. The aneurysm was simply dealt with b y dividing the common iliac artery at its origin and oversewing the ends. This effectively abolished pulsation in the sac. After
324
P.V. Flanagan e t a l .
Fig. 1. Ultrasound view of the abdomen showing right iliac aneurysm.
o p e r a t i o n t h e p a t i e n t developed a n episode of p a i n a n d tenderness at the site of t h e a n e u r y s m . This was t h o u g h t to r e p r e s e n t a possible leak from t h e excluded sac. H o w ever, his s y m p t o m s a n d signs settled v e r y quickly. He also developed deep vein t h r o m b o s i s in the left lower limb a n d required a n t i c o a g u l a n t t h e r a p y for this. S u b s e q u e n t l y the a n e u r y s m sac b e c a m e firm a n d d i m i n i s h e d rapidly in size. One y e a r after o p e r a t i o n it w a s impalpable.
Discussion A l t h o u g h 8 5% of cases of M a r f a n ' s S y n d r o m e are familial a n d h a v e a n a u t o s o m a l d o m i n a n t p a t t e r n of t r a n s mission t h e r e m a i n d e r are sporadic a n d t h o u g h t to arise from n e w m u t a t i o n s . The case described p r o b a b l y belongs to t h e latter group. Because of the low incidence a n d the wide v a r i a t i o n of expression, the specific m e t a b o l i c defect is u n k n o w n . Defective c o l l a g e n cross-linkage, w i t h or w i t h o u t impaired elastin r e g e n e r a t i o n , m a y result from i m p a i r e d lysine oxidase function. 56' Elevated u r i n a r y lysine excretion w a s n o t e d in o u r p a t i e n t b u t the precise significance of this is n o t evident from a p p r a i s a l of t h e literature. It h a s b e e n s u g g e s t e d t h a t the incidence of a b d o m inal aortic a n e u r y s m in a s s o c i a t i o n w i t h M a r f a n ' s is ext r e m e l y low. The r e a s o n s p r o p o s e d for this h a v e i n c l u d e d a h i g h early d e a t h r a t e from p r o x i m a l d i l a t a t i o n a n d dis-
EurJ Vasc Surg Vol 4, June 1990
section, a s e c o n d a r y protective effect of p r o x i m a l dilat a t i o n o n the distal v a s c u l a t u r e a n d the l o w e r elastin cont e n t a n d smaller d i a m e t e r of the a b d o m i n a l a o r t a a n d distal vessels. 3 The d e v e l o p m e n t of a n extensive iliac a n e u r y s m in this p a t i e n t suggests t h a t the basic s t r u c t u r a l w e a k n e s s m a y be m o r e widely distributed in t h e a r t e r i a l tree wall t h a n is g e n e r a l l y appreciated. Possibly the p r o l o n g a t i o n of life in M a r f a n p a t i e n t s by m o d e r n surgical techniques, w h i c h correct the p r o x i m a l aortic fault, will witness the m o r e frequent p r e s e n t a t i o n of p e r i p h e r a l a n e u r y s m s in these patients.
References 1 Hirst AE, Gore I. Marfan's Syndrome: A Review. Prog Cardiovasc Dis, 1973;16:187. 2 Yu SC. Marfan's Syndrome with Spontaneous Pneumothorax and Abdominal Aortic Aneurysm. Int Surg, 1976; 61 : 30-31. 3 MoI-mR, ADARR, RUBENSTBINZ. Multiple Aortic Aneurysms in Marfan's Syndrome, J Cardiovasc Surg, 1984:25 : 566-571. 4 HOUSTONHE, Abdominal Aortic Aneurysm in Marfan's Syndrome. J Kentucky M ed Assoc, 1978 ;25: 567-570. 5 Mc KUSICKVA. Heritable Disorders of Connective Tissue. 4th ed, St. Louis: Mosby, 1972;61-223. 6 PEREJDA AJ, ABRAHAMPA, CARNESWH, COULSONWF, UITTOJ, Marfan's Syndrome: Structural, Biochemical and Mechanical Studies of the Aortic Media. J Lab Clin Med, 1985 ; 106 : 376-383. Accepted 2 September 1988