Ann Thorac Surg 2005;80:729-731
© 2005 The Society of Thoracic Surgeons
Case report
Coarctation of the Thoraco-Abdominal Aorta Associated With Mucopolysaccharidosis VII in a Child
Osami Honjo, MD
a
,
Kozo Ishino, MD
a
,
*
,
Masaaki Kawada, MD
a
,
Shin-Ichi Ohtsuki, MD
b
,
Shunji Sano, MD
a
a Department of Cardiovascular Surgery, Okayama University Graduate School of Medicine and Dentistry, Okayama City, Japan
b Department of Pediatrics, Okayama University Graduate School of Medicine and Dentistry, Okayama City, Japan
Accepted for publication February 3, 2004.
* Address reprint requests to Dr Ishino, Department of Cardiovascular Surgery, Okayama University Graduate School of Medicine and Dentistry, 2-5-1 Shikata-cho, Okayama City 700-8558, Japan (Email: ishino{at}tb3.so-net.ne.jp).
 |
Abstract
|
|---|
Herein we describe a case of atypical coarctation of the thoraco-abdominal aorta associated with mucopolysaccharidosis VII in a 4-year-old girl. Aortography showed diffuse narrowing of the descending aorta. An extra-anatomic bypass was constructed using an 8-mm Dacron graft (Meadox Medicals Inc, Oakland, NJ) between the proximal and distal portion of the descending aorta. Balloon angioplasty was necessary to treat stenoses in the infrarenal abdominal aorta. Two years postoperatively at age 6, aortography revealed no stenosis at the anastomotic sites or in the prosthesis, but the hypoplastic segment of the descending aorta between the anstomoses was completely occluded.
|
Introduction
|
|---|
Mucopolysaccharidoses are inherited deficiencies of specific degradative lysosomal enzymes and their clinical manifestations result from the accumulation of mucopolysaccharides (major components of the intercellular substance of connective tissue) in various organs. Lesion developments in the cardiovascular system (eg, in the coronary arteries, cardiac valves, and aorta) have been documented in all forms of mucopolysaccharidoses [1, 2]. Herein we describe a child with atypical coarctation of the thoracoabdominal aorta associated with mucopolysaccharidosis VII (ß-gluconidase deficiency) in whom growth of the diseased aorta was promoted by surgical and transcatheter treatments.
A 4-year-old girl who had presented with congenital hip joint dislocation, a characteristic face, and growth retardation was referred to our hospital for severe hypertension. She was diagnosed as having mucopolysaccharidosis VII by documenting ß-gluconidase deficiency in leukocytes at 2 years of age. She was noted to have hypertension at 4 years of age when she was hospitalized for bone marrow transplantation to correct enzyme deficiency by metabolically competent normal cells [3]. Echocardiography demonstrated marked concentric hypertrophy of the left ventricle and coarctation of the thoracic aorta. Cardiac catheterization revealed severe central hypertension with a blood pressure of 165/79 mm Hg in the ascending aorta and of 64/51 mm Hg in the descending aorta. Aortography showed diffuse narrowing of the descending thoracic and abdominal aorta (Fig 1A). The hypoplastic segment of the thoracic aorta was 60 mm in length and 2 mm in diameter. The infrarenal abdominal aorta was also hypoplastic, but there was no stenosis in the major visceral arteries.
View larger version (149K):
[in this window]
[in a new window]
|
Fig 1. (A) Preoperative angiogram showing a long, narrow segment in the thoracic aorta and a severe stenosis in the abdominal aorta. (B) Postoperative aortography showing no stenosis at the anastomotic sites or in the prosthesis, but the thoracic aorta between the anstomoses was completely occluded. Visceral branches of the abdominal aorta were also free from stenoses.
|
|
At the time of surgery, the descending thoracic aorta was approached by a left thoracotomy through the 5th and 8th intercostal spaces. The lower incision was extended to the left pararectal region. The abdominal aorta was exposed by a retroperitoneal approach without incising the diaphragm. The external diameter of the descending aorta just above the diaphragm was 8 mm, but the infrarenal abdominal aorta was found to be too small for grafting. An extra-anatomic bypass using an 8-mm Dacron graft (Meadox Medicals Inc, Oakland, NJ) was constructed in an end-to-side fashion. A proximal anastomosis was made on the nonhypoplastic segment of the proximal descending aorta, and a distal anastomosis was placed on the aorta just above the diaphragm. After completion of the extra-anatomic bypass, the systolic pressure in the upper limb decreased from 200 mm Hg to 150 mm Hg, and the pressure gradient across the coarctation decreased from 100 mm Hg to 60 mm Hg.
Because growth of the aorta peripheral to the bypass could be expected, we did not attempt transcatheter reconstruction of a hypoplastic abdominal aorta at this stage.
One year after the operation, cardiac catheterization revealed no pressure gradient between the ascending and descending aortas with a pressure of 136/66 mm Hg, but there was a stenosis with a gradient of 30 mm Hg in the infrarenal abdominal aorta that required balloon angioplasty. After the procedure, there was no pressure gradient between the proximal and distal abdominal aortas. Two years after the operation at the age of 6, a repeat cardiac catheterization showed a peak left ventricular pressure of 120 mm Hg and no pressure gradient between the native aorta and the prosthesis across the anastomotic sites. Aortography revealed no obstructions at the anastomotic sites or in the prosthesis, although the hypoplastic segment of the descending aorta between the anastomoses was completely occluded (Fig 1B). Visceral branches of the abdominal aorta were also free from stenoses. Echocardiography showed regression of concentric hypertrophy of the left ventricle.
|
Comment
|
|---|
Mucopolysaccharidosis VII, the so-called Sly syndrome, is the most recently recognized mucopolysaccharidosis associated with ß-gluconidase deficiency. Patients with this disease have clinical and skeletal features of mucopolycaccharidoses, including hepatosplenomegaly, short stature, skeletal deformities, and mental retardation [4]. Variations in the phenotypic expression of this enzyme defect have been reported; some patients die by their early teenage years, whereas others have no mental retardation and only a very mild course [5]. Severe aortic narrowing such as that observed in our patient has been reported in only 1 previous patient who underwent an extra-anatomic bypass at the age of 13 [4], but surgical outcome was not described. Taylor and colleagues [2] reported that mucopolysaccharidosis I patients have the pathogenesis of progressive aortic narrowing that may be the deposition of mucopolysaccharide within the intima and media of the vessel wall. The results in our patient showed that the restoration of blood flow by surgery or by transcatheter balloon angioplasty, or both, promotes growth of the diseased aorta. Without such interventions, the lesion would become progressively occlusive.
Thoraco-abdominal aortic coarctations should be treated with surgery to unload the left ventricle by relieving central hypertension; this surgery may be performed using an orthotopic graft replacement [6] or an extra-anatomic aortic bypass [7]. Because the stenotic segment was long and diffuse in our patient, we selected the extra-anatomic aortic bypass to resolve the caliber mismatch between the recipient aorta and the synthetic graft, and to avoid extensive manipulation of the aorta as well as the risk of ischemic spinal cord damage, which often occurs in operations on the descending aorta. Although the anastomoses were constructed with potentially abnormal segments of the aorta, a 2-year postoperative aortography revealed complete patency of the graft without stenosis at the anastomotic sites. Because the thoracic aorta between the anstomoses was completely occluded, the replacement of an outgrown prosthesis may be necessary in the future.
|
References
|
|---|
- Krovertz LJ, Lorincz AE, Schiebler GL. Cardiovascular manifestations of the Hurler syndrome Circulation 1965;31:132-141.[Abstract/Free Full Text]
- Taylor DB, Blaser SI, Burrows PE, Stringer DA, Clarke JTR, Thorner P. Arteriopathy and coarctation of the abdominal aorta in children with mucopolysaccharidosis Am J Roentgenol 1991;157:819-823.[Abstract/Free Full Text]
- Hoogerbrugge PM, Brouwer OF, Bordigoni P, et al. Allogeneic bone marrow transplantation for lysosomal storage diseases Lancet 1995;345:1398-1402.[Medline]
- Beaudet AL, DiFerrante NM, Ferry GD, Nichols BL, Mullins CE. Variation in the phenotypic expression of beta-glucuronidase deficiency J Pediatr 1975;86:388-394.[Medline]
- Matalon R. Disorders of mucopolysaccharide metabolismIn: Behrman RE, editor. Nelson Textbook of pediatrics. 13th ed. Philadelphia: W.B. Saunders Co; 1987. pp. 323-327.
- Alexi-Meskishvilli VV, Berger F. Eleven-year follow-up after descending thoracic aorta replacement in a small child Ann Thorac Surg 2001;71:1006-1008.[Abstract/Free Full Text]
- Mickley V, Fleiter T. Coarctation of descending and abdominal aortalong-term results of surgical therapy. J Vasc Surg 1998;28:206-214.[Medline]
Top
Abstract
Introduction
