Ann Thorac Surg 2006;82:740-742
© 2006 The Society of Thoracic Surgeons
Case report
Pulmonary Artery Aneurysm and Coronary Artery Disease in the Clinical Presentation of Watson Syndrome
James L. Foster, MD,
Scott M. Bradley, MD,
John S. Ikonomidis, MD, PhD*
Division of Cardiothoracic Surgery, Medical University of South Carolina, Charleston, South Carolina
Accepted for publication October 17, 2005.
* Address correspondence to Dr Ikonomidis, Division of Cardiothoracic Surgery, Medical University of South Carolina, 96 Jonathan Lucas St, Suite 409, PO Box 250612, Charleston, SC 29425 (Email: ikonomij{at}musc.edu).
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Abstract
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In 1967, Watson described children in three families with pulmonary valve stenosis, dull intelligence, short stature, and cafe-au-lait spots. We present the case of an undiagnosed adult with coronary artery disease, the Watson syndrome characteristics, and a pulmonary artery aneurysm secondary to pulmonic stenosis.
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Introduction
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Numerous genetic anomalies are associated with cardiac defects. A small subset of these, referred to as the cardio-cutaneous syndromes, have associated skin lesions and include Noonan syndrome, LEOPARD syndrome, and Watson syndrome [1]. With regard to the latter condition, in 1967, Watson described children in three families with pulmonary valve stenosis, dull intelligence, short stature, and cafe-au-lait spots [2]. Since then the syndrome has been expanded to include relative macrocephaly and Lisch nodules in the majority of cases and neurofibromata in one third of affected individuals [3]. Considerable overlap exists between the previously described conditions and type 1 neurofibromatosis. Molecular linkage studies suggest the existence of several contiguous genes for pulmonary stenosis, neurocutaneous anomalies, short stature, and mental retardation on chromosome 17q [4]. We present the case of an undiagnosed adult with the Watson syndrome characteristics, coronary artery disease, and a pulmonary artery aneurysm.
A 54-year-old man with severe coronary artery disease presented to an outside hospital with unstable angina. His past medical history included mild mental retardation, congenital cardiac murmur, neurofibromatosis, and a previous myocardial infarction. Physical examination revealed a short Caucasian male with numerous neurofibromas and cafe-au-lait spots. A mild holosystolic murmur was heard loudest in the left second intercostal space. An aortopulmonary window abnormality on chest roentgenogram prompted a chest computed tomographic scan (Fig 1) revealing a 6-cm main trunk and left pulmonary artery aneurysm. Preoperative transthoracic echocardiography showed normal right ventricular size and function and failed to note significant valvular pathology. Cardiac catheterization revealed severe three-vessel coronary artery disease, no congenital coronary anomalies, and preserved left ventricular function.
At surgery, a harsh thrill was palpated in the main pulmonary artery and transesophageal echocardiography confirmed the diagnosis of pulmonic stenosis. The pulmonary artery pressures were normal and a 50 mm Hg gradient was measured from the right ventricle to the pulmonary artery. After bi-caval cannulation, institution of cardiopulmonary bypass, and cardioplegic arrest, the main pulmonary artery was opened in a longitudinal fashion down from its bifurcation to the pulmonic valve. The valve had the characteristic commissural fusion of congenital pulmonic stenosis. In addition, subvalvular muscular outflow tract obstruction was noted. A pulmonic valvuloplasty consisting of a complete triple commissurotomy was performed. An infundibular septal myotomy was also undertaken. The main pulmonary trunk was normal in size immediately above the pulmonic valve; however, the distal main pulmonary artery and left main pulmonary artery were significantly enlarged. A longitudinal aneurysmorrhaphy, with resection of the anterior portion of the distal trunk and left main pulmonary artery was performed. The aneurysmorrhaphy was completed with a small supravalvular pulmonary patch angioplasty using bovine pericardium. A three-vessel coronary artery bypass was then completed consisting of the left internal thoracic artery to the left anterior descending artery and reversed saphenous vein grafts to the first obtuse marginal artery and posterior descending artery. The immediate post-repair pulmonary gradient was 20 mm Hg, with trivial to mild pulmonary insufficiency on intraoperative transesophageal echocardiogram. The patient had an uneventful recovery and was discharged on postoperative day 5. Pathologic examination of the pulmonary artery showed no evidence of connective tissue disorder. Postoperative computed tomographic scan demonstrated the correction in size discrepancy between the main pulmonary branches (Fig 2).
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Comment
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The previously described patient presented with an unusual triad of severe symptomatic coronary artery disease, pulmonary artery aneurysm, and congenital pulmonary valve stenosis presenting in adulthood. Our surgical strategy focused primarily on relieving his angina with a coronary artery bypass as this was his critical and presenting problem.
In treating his pulmonic stenosis, we considered replacement of the pulmonary valve with a stented bioprostheses or homograft. Fortunately the valve was amenable to repair through commissurotomy. Pulmonary artery aneurysms are rare, and there are no large series on repair. The natural history is largely unknown with the exception that cases of fatal dissection and rupture have been reported [5, 6]. Surgical approaches have included aneurysmorrhaphy with resection of the anterior wall [7], and replacement with a Dacron graft or pulmonary homograft [8]. The aneurysm described here was confined to the distal main pulmonary trunk and the proximal left main pulmonary artery. This made it readily amendable to repair through longitudinal aneurysmorrhaphy with good visualization through a median sternotomy. The most likely cause of the aneurysm, given the lack of pathologic evidence of an underlying connective tissue disorder, is post-stenotic dilatation.
Watson syndrome is extremely rare. This patient fit the clinical presentation with mild mental retardation, short stature, cafe au lait spots, neurofibromas, and pulmonary valve stenosis. This report represents the first description of surgical treatment of pulmonic stenosis, pulmonary artery aneurysm, and coronary disease with this syndrome.
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References
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- Mendez HMM, Optiz JM. Noonan syndromea review. Am J Med Genet 1985;21:493-506.[Medline]
- Watson GH. Pulmonary stenosis, café-au-lait spots, and dull intelligence Arch Dis Child 1967;42:303-307.[Medline]
- Allanson JE, Upadhyaya M, Watson GH, Partington M, Harper P, Huson S. Molecular linkage analysis of Watson syndrome(abstract) Am J Human Genet 1989;45(Suppl):A38.
- Allanson JE, Upadhyaya M, Watson GH, et al. Watson syndromeis it a subtype of type 1 neurofibromatosis?. J Med Genet 1991;28:752-756.[Abstract/Free Full Text]
- Senbaklavaci O, Kaneko Y, Bartunek A, et al. Rupture and dissection in pulmonary artery aneurysmsincidence, cause, and treatment-review and case report. J Thorac Cardiovasc Surg 2001;121:1006-1008.[Free Full Text]
- Veldtman GR, Dearani JA, Warnes CA. Low pressure giant pulmonary artery aneurysms in the adultnatural history and management strategies. Heart 2003;89:1067-1070.[Abstract/Free Full Text]
- Finch EL, Mitchell RS, Guthaner DF, Fowles RF, Miller DC. Pulmonary artery surgical aneurysmorrhaphywhere do we go from here?. Am Heart J 1983;106:614-618.[Medline]
- Williams Jr TE, Schiller M, Craenen J, Hosier DM, Sirak HD. Pulmonary artery aneurysm J Thorac Cardiovasc Surg 1971;62:63-67.[Medline]
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Abstract
Introduction
