EJVES Extra
Volume 13, Issue 2 , Pages 9-12, February 2007

Spontaneous Non-traumatic Rupture of a Non-aneurysmatic Infrarenal Abdominal Aorta in a 10-Year Old Girl without Histological Evidence of Connective Tissue or Autoimmune Disease: A Case Report

  • R.A. Pol

      Affiliations

    • Department of Surgery, Isala Klinieken, Zwolle, The Netherlands
    • ,
  • H.A.J.M. Kurvers

      Affiliations

    • Department of Surgery, University Medical Center, St Radboud, Nijmegen, The Netherlands
    • ,
  • J.B.G.M. Verheij

      Affiliations

    • Department of Genetics, University Medical Center Groningen, The Netherlands
    • ,
  • G. Pals

      Affiliations

    • Department of Clinical Genetics, VU Medical Center Amsterdam, The Netherlands
    • ,
  • A.M. van der Wal

      Affiliations

    • Department of Pathology, University Medical Center, Amsterdam, The Netherlands
    • ,
  • J. Boers

      Affiliations

    • Department of Pathology, Isala Klinieken, Zwolle, The Netherlands
    • ,
  • P.J.G. Jörning

      Affiliations

    • Department of Surgery, Isala Klinieken, Zwolle, The Netherlands
    • Corresponding Author InformationCorresponding author. P.J.G. Jörning, Department of surgery, Isala Clinics, Dr. van Heesweg 2, 8025 AB Zwolle, The Netherlands.

Accepted 30 July 2006.

Article Outline

Spontaneous non-traumatic rupture of a non-aneurysmatic infrarenal abdominal aorta is an extremely rare condition, which to our knowledge, has only been described in adults. Rupture is usually associated with some form of connective tissue or autoimmune disease, which causes weakness of the aortic tunica media. This report is the first to present a case of a non-traumatic rupture of a non-aneurysmatic abdominal aorta in a 10-year old girl. Histological investigation of microscopic sections of the ruptured aorta, molecular biological, and DNA mutation analyses, did not demonstrate any abnormalities.

Keywords: Abdominal aorta, Spontaneous rupture, Connective tissue disease, Autoimmune disease, Child

 

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Introduction 

Spontaneous non-traumatic rupture (SNR) of a non-aneurysmatic infrarenal abdominal aorta is a rare condition, which, to our knowledge, has only been described in adults.1 In these cases, rupture may result from well-defined causes such as (hereditary) structural weakness of the aortic tunica media caused by some form of connective tissue or autoimmune2 disease. The nature of this life-threatening condition necessitates early identification and immediate surgical repair.

In most cases presented in the literature, the cause of SNR of a non-aneurysmatic infrarenal abdominal aorta was shown histologically to be associated with some kind of connective tissue or autoimmune1 disease as indicated by structural weakness of the aortic tunica media.

This report is the first to present a case of a spontaneous rupture of a non-aneurysmatic abdominal aorta in a 10-year old girl in the absence of histological abnormalities usually seen in connective tissue or autoimmune disease.

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Medical History 

Patient A, a 10-year old Caucasian girl, was referred to the emergency room by a general practitioner because of a sudden onset of acute abdominal pain and nausea. Significant past medical problems were denied. There was no history of trauma. On physical examination, the patient was agitated, screaming, and diaphoretic. Her blood pressure was 114/75mm Hg and her pulse rate 146 beats/minute. Palpation of the abdomen was diffusely painful. No pulsatile mass, guarding, or rebound tenderness was found. Laboratory tests, consisting of full blood count and differential, urea and electrolytes, only revealed a mild leucocytosis (14.6×103) and a normale erythrocyte sedimentation rate (ESR). Abdominal ultrasonography revealed no signs of appendicitis, volvulus, intussusception, or free fluid. A plain abdominal X-ray suggested a volvulus of the sigmoid.

Because of the probability of a volvulus of the sigmoid, a colonoscopy was performed by the pediatrician, which revealed no abnormalities. Following colonoscopy, the patient had less pain and discomfort and she was admitted to the pediatric ward for further observation.

Eleven hours after admission the patient became unresponsive and hypotensive, her blood pressure decreased to 70/30mm Hg and her pulse rate increased to 120 beats/minute. Laboratory tests revealed a hemoglobin level of 2.1mmol/L. These findings suggested hemorrhagic shock of unknown origin. The abdominal ultrasound was repeated and revealed a large retroperitoneal hematoma. Following successful resuscitation, the patient was rushed to the operating room where an emergency midline laparotomy was performed. This revealed a large midline retroperitoneal hematoma originating from a tear in the infrarenal aorta. The tear was about 1.5cm in length and originated 1–2 centimeters below the renal arteries. The aortic wall appeared normal, aneurysmatic dilation was not observed. Following clamping of the aorta proximal and distal to the rupture, primary repair of the aortic tear was attempted using 6/0 Prolene (Ethicon inc., Johnson&Johnson, Somersville, NJ, USA). The aortic tissue, however, was found to be extremely fragile as a result of which multiple attempts to achieve primary repair failed. This prompted us to place one vascular clamp directly below the renal arteries and another just distal to the initially most distally placed clamp. Removal of the initially placed vascular clamps demonstrated severe laceration at the site of clamping. We therefore opted to replace the damaged aortic segment by a 10mm PTFE tube graft (GORE-TEX® Vascular grafts, Gore Medical Products, Flagstaff, Arizona, USA) that was anastomosed in an end-to-end way with 5/0 prolene. Following careful removal of the proximal vascular clamp, the aorta was severed at the site of clamping with partial avulsion of the origin of the left renal artery. In order to obtain more proximal control, the cardiothoracic surgeon was consulted who performed a thoracotomy. To this end, the incision of the laparotomy was extended over the fifth left intercostal space. To enhance exposure of the aorta, the diaphragm was divided in a circumferential fashion. Following identification and exposure of the descending thoracic aorta a vessel loop was placed around the aorta. Mild traction on the vessel loop already caused immediate and complete transection of the thoracic aorta. Aortic retraction resulted in uncontrollable hemorrhage, cardiac arrest and death.

During autopsy, a large retroperitoneal and intramesenteric haematoma was observed. No malformations were observed suggestive of an inherited connective tissue disorder. There were no pre-existing macroscopic abnormalities of the aorta (Fig. 1).

Two samples of iliac, renal and coeliac arteries each as well as 5 samples (normal and ruptured areas) of the abdominal aorta were submitted for histologic examination. HE, PAS, EvG, Gomorri Silver and Alcean Blue stain did not reveal any pathology, as judged by a local pathologist (JEB) and by the Academic consultant (AvdW). Mucoid degeneration, fragmentation of elastic fibers or any inflammation was absent. (Fig. 2). A skin biopsy was taken for fibroblast culture. Immunohistochemical stains were judged to be of very limited value and were not performed. Tissue was not specifically submitted for electron microscopy (EM) at the time of autopsy; tissue taken from paraffin blocks was judged to be less informative being of insufficient quality for high power EM examination of collagen fibers. At autopsy, no abnormalities were found other than ruptured vessels.

The genes involved in Marfan syndrome (FBN1 and TGFBR2), and the arterial form of Ehlers-Danlos syndrome (COL3A1) were analyzed. Collagen protein analysis was performed in cultured fibroblasts and showed no abnormalities. The electrophoresis patterns of metabolically labelled collagens type I, III and V were normal and the relative amount of excreted collagen type III was 15% (normal range 5–18%). No mutations were detected in the COL3A1 gene, by sequencing of the complete coding sequence on cDNA from mRNA. Bi-allelic expression of COL3A1 was proven by presence of a heterozygous polymorphism and no evidence of aberrant splicing was found. Mutation analysis of the complete coding sequences of FBN1 and TGFBR2 was performed by DHPLC analysis of all exons and adjacent introns sequences and sequencing of aberrant fragments. No mutations were found in these genes.

Family history was negative for connective tissue disease. Clinical examination of both parents revealed no signs of Marfan syndrome or Ehlers-Danlos syndrome. Echocardiographic investigations of the aortic root diameter of both parents and a younger brother were normal.

Collectively, these findings argued against our initial hypothesis that this non-traumatic rupture was associated with some form of connective tissue disease or structural defect such as with Marfans' disease, Ehlers-Danlos syndrome, or cystic medial degeneration.

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Discussion 

Spontaneous non-traumatic rupture (SNR) of a non-aneurysmatic abdominal aorta is usually associated with some kind of primary disease of the aortic wall such as hereditary connective tissue abnormalities (Marfans' disease, Ehlers-Danlos type IV). Other diseases of the arterial wall which may result in non-traumatic rupture of a non-aneurysmatic abdominal aorta are atherosclerosis,4, 5 infection,6, 7, 8 and inflammation.2, 9 Histological examination of sections of the diseased aorta of our patient did not reveal abnormalities consistent with any of these diseases.

To our knowledge, less than 20 cases have been reported of SNR of a non-aneurysmatic abdominal aorta.1, 10, 11, 12, 13, 14, 15, 16, 17, 18 In a vast majority of these cases, the cause of rupture could be identified histologically and all patients were adults. The presenting symptoms are diverse and may include abdominal pain, back pain, syncope, nausea, and vomiting.1, 19

Non-traumatic rupture and dissection of the aorta in younger people is often associated with hereditary connective tissue disorders such as Ehlers-Danlos type IV and Marfan syndrome. Ehlers-Danlos type IV is an autosomal dominant disorder, resulting in structural defects of type III collagen chains resulting in extreme fragility of the arterial wall.20 This fragility accounts for the clinical phenomena of multiple aneurysm formation, non-traumatic rupture of the aortic wall as well as aortic dissection. In almost half of the patients, the first clinical phenomenon is arterial rupture of the great vessels.3 Major complications are uncommon in childhood, albeit that 80 percent of these complications occur before the age of 40. Marfan syndrome is characterized by collagene and elastine abnormalities resulting in amongst others aortic aneurysm-formation. Aortic rupture most frequently results from aortic dissection originating at the annulus of the aortic valve. Aortic dissection is rare in children suffering from Marfan syndrome with an incidence of less than 1%.9 Acute life-threatening manifestations of the syndrome usually occur in the third decade.

Another cause of non-traumatic rupture of a non-aneurysmal artery is atherosclerosis. This disease is characterized by formation of fibrous plaques in the intima, thereby weakening the underlying media, which may result in perforation by an atherosclerotic ulcer.4, 5, 13 Although the process of atherosclerosis may start during childhood, perforation of an atherosclerotic ulcer has never been reported on in this age group.

In adult patients wit a ruptured aorta, open surgical repair remains the standard treatment despite its high morbidity and mortality. Recently, some studies have demonstrated the feasibility of endovascular repair (EVAR) in this patient group. However, in our specific case the patient was hemodynamically unstable which precluded the making of a CT-scan. Consequently, we did not have the anatomical dimensions of the aorta to be treated. Moreover, our standard set for EVAR of AAAAs contains endoprotheses for repair of adult aortas and it is more than likely that these are unfit to be used in the aorta of a young child. Therefore, we feel that in our specific case we did not have any other option than traditional surgical repair of the ruptured aorta.

In conclusion, this report is the first to describe a case of non-traumatic rupture of a non-aneurysmatic abdominal aorta in a 10-year old child in the absence of histological abnormalities of the aortic wall.

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References 

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PII: S1533-3167(06)00071-9

doi:10.1016/j.ejvsextra.2006.07.005

EJVES Extra
Volume 13, Issue 2 , Pages 9-12, February 2007

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