Ann Thorac Surg 2004;77:2192-2194
© 2004 The Society of Thoracic Surgeons
Case report
Marfan syndrome as a predisposing factor for traumatic aortic insufficiency
Francesco Onorati, MDa,
Luca Salvatore De Santo, MDa,
Antonio Carozza, MDa,
Marisa De Feo, MDa,
Attilio Renzulli, MD, FECTSb*,
Maurizio Cotrufo, FECTSa
a Dipartimento di Scienze Cardiotoraciche e Respiratorie, V. Monaldi Hospital, Seconda Università di Napoli, Naples, Italy
b U. O. Cardiochirurgia Università Magna Graecia of Catanzaro, Catanzaro, Italy
Accepted for publication June 6, 2003.
* Address reprint requests to Dr Renzulli, Via Aquila, 144, 80100 Naples, Italy
e-mail: arenzul{at}tin.it
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Abstract
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Despite the increase in car accidents, aortic valve injury from blunt trauma remains rare. In one case, a 30-year-old Marfan male, who was under observation at our outpatient clinic, suffered from aortic regurgitation due to a tear in the left coronary cusp of a previously echocardiographically normal valve. Acute ventricular failure demanded surgical management within 3 days after an automobile accident. The case was successfully treated by replacement of the aortic valve with a no. 23 Sorin Bicarbon prosthesis. The patient fully recovered and experienced an uneventful 6 months of follow-up.
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Introduction
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Marfan syndrome, an autosomal dominant connective disorder that primarily affects the cardiovascular, skeletal, and ocular systems, predisposes to severe aortic dilatation or dissection, thus demanding early ß-blocking therapy and strict echocardiographic follow-up [1]. Isolated cusp disruption is an extremely uncommon complication of blunt chest trauma [2]. Surgical management of a rare case of left coronary cusp disruption determining acute progression to heart failure in a Marfan patient is reported.
Screening of first-degree relatives of a surgically treated Marfan patient disclosed a 30-year-old asymptomatic male who proved positive for a mutation in the FBN1 gene and presented ectopia lentis at an ophthalmologist's evaluation. He was referred to the outpatient clinic of our department for clinical and echocardiographic follow-up. Twenty-two days after an echocardiographic control, which ruled out both aortic root dilatation and valve incompetence, he sustained a high-speed motor vehicle collision. Admitted to a primary care service, he was disoriented and amnestic in regard to the accident and experienced paroxysmal dyspnea. His associated injuries included sternal contusion, bilateral rib fractures, two deep lacerated wounds at legs and arms, and some hematomas of superficial tissues. Echocardiographic evaluation demonstrated severe aortic valve insufficiency, and thus, he was immediately referred to the intensive care unit of our department. Electrocardiogram showed sinus rhythm at 92 bpm and left ventricular strain. Blood pressure was 180/45 mm Hg, and both Corrigan's and Durozier's signs were present. Paroxysmal gallop rhythm and diastolic murmur were audible. Transesophageal echocardiography (TEE) demonstrated complete flail of left coronary cusp (LCC) into a mild dilated left ventricle (LV) with severe valve insufficiency, normal ascending, arch, and descending aorta. Evaluation of the aortic ratio by the regression formula described by Roman and associates [3] disclosed a value of 1.1. Preoperative screening included also a total body computed tomography scan, which ruled out both neurologic and vascular injuries (eg, aortic dissection or great vessel detachment). Surgical treatment was accomplished 3 days after the accident on an emergency basis due to severe decompensation refractory to medical therapy. After median sternotomy, a small amount of pericardial effusion and minor ecchymotic bruises on the anterior part of the aortic root were noted. Under mild hypothermic cardiopulmonary bypass (CPB), the aorta was cross-clamped, and hypothermic antegrade St. Thomas cardioplegia was administered into coronary ostia after oblique aortotomy and topical myocardial cooling. There were no signs of intimal tears and aortic dissection. A longitudinal tear of the left coronary cusp was detected starting from the free edge and ending near the attachment to the aortic wall (Fig 1).
It completely splayed open the cusp in a asymmetric fashion because it was closer to the commissure between left coronary and noncoronary cusp (Fig 2),
leading to a complete flail of LCC. The annulus, sinuses, sino-tubular junction, and other cusps appeared macroscopically intact. Aortic valve replacement with a no. 23 mechanical Sorin-Bicarbon prosthesis was accomplished.
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Fig 1. The longitudinal tear of the left coronary cusp (arrow) starts from the free edge and ends near the attachment to the aortic wall.
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The pathologic study of the cusps showed the typical disorganization of the elastic fibers and cystic medial degeneration in all three cusps without leukocytes. Laceration of the elastic fiber bundle near the gross perforation on the LCC was disclosed. A similar lesion was detected in the noncoronary cusp, which was free from perforation. Despite bacterial pneumonia treated by antibiotics, the patient rapidly recovered and was discharged on 8th postoperative day. Dilatation of the aortic root did not develop in an uneventful 6 months of follow-up.
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Comment
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Damage to the aortic valve in nonpenetrating trauma of the chest remains rare, although increase in high-speed traffic accidents has increased its occurrence. Past history of blunt trauma, absence of any history of heart disease, along with sudden onset of signs and symptoms of aortic insufficiency and thoracic aortography or echocardiography that demonstrate severe aortic valve regurgitation are all fundamental to diagnose posttraumatic aortic incompetence [2]. Nevertheless, echocardiographic evaluation performed 22 days before the accident ruled out both aortic root dilatation and valve incompetence. Underlying predisposing conditions to cusp injury have been disclosed, ranging from steroid therapy or minimal valvular abnormality to cystic medial degeneration [2]. To the best of our knowledge, this is the first case report on Marfan syndrome. Accuracy in the diagnosis of this syndrome is firmly supported by the FBN1 gene mutation and from the ophthalmologist's evaluation [4].
Sinus dilatation and increased wall stiffness elevate pulse pressure on the structurally attenuated aortic wall usually affected by grade III or IV medial degeneration. Marfan patients consequently have both a structural and functional propensity towards aortic and great vessel dissection or rupture. However, aortic valve-sparing procedures have emerged as an alternative to composite valve-graft aortic root replacement, although in some of these series, there was a considerable incidence of mild to moderate aortic regurgitation, and some patients needed an aortic valve replacement for progressive regurgitation [5]. Despite these good results, there remain concerns regarding the late fate of a structurally abnormal aortic valve that is defective in fibrillin.
The mechanism of injury on the valve is still under investigation, but the so-called "water hammer" effect (sudden hydrostatic pressure increase inside the aorta during the beginning of the diastole, when the valve is closed and under maximal tension and pressure in the empty underlying ventricle is low) appears to be the most probable [6]. A variety of lesions, including intimal tears, cusp disruption, leaflet avulsion, and detachment of the commissures from the aortic wall have been described [2]. Usually, the most frequently damaged cusp is the noncoronary, but few cases of LCC lesions have been reported [2, 7]. Lesions of the aorta, great vessels, and heart are associated [2, 7]. Singularly, the LCC lesion was not combined with any other vascular injury. As to the literature overview of isolated cusp damage, most of the patients affected experienced an asymptomatic period lasting at least a week or more after the accident, and acute decompensation is extremely uncommon [2]. Sudden onset of paroxysmal dyspnea and its recurrence in a short period of bed rest, as in this case report, may imply that the underlying predisposing wall fragility led either to a severe initial damage of the valve or to rapid extension of an initially small tear under hemodynamic stress. The net result was immediate left ventricle overload leading to congestive heart failure. In such cases, emergency surgical management is mandatory [2, 7], supported by a total-body computed tomography scan that excluded brain lesions and the inherent risk of cerebral bleeding during CPB.
Due to the Marfan disease, use of a prosthesis was mandatory. Pathologic examination further supported this approach. Some concerns may rise considering the fact that the ascending aorta was not treated. This management strategy was mainly based on three different considerations. First, the ascending wall proved normal on surgical exploration both at the annular level and to the sino-tubular ridge. Second, the aortic ratio was lower than 1.3. The latter value is a recognized indication to ascending replacement [8]. Third, the patient was severely compromised and complex procedures were deemed to be a major risk. Finally, presence of a deep lacerated wound as a potential entry site for bacteria made prosthetic ascending replacement hazardous for endocarditis.
Both valve replacement and reparative surgery are feasible options for the treatment of posttraumatic aortic valve regurgitation. Choice of surgical management should be based both on careful examination of underlying conditions predisposing to valve fragility and on extension of valve damage.
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References
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- Pyeritz RE. Marfan syndrome. In: Goldman L, Bennet JC, eds. Cecil textbook of medicine, 21st ed. Philadelphia: WB Saunders, 1118–9
- Pretre R., Faidutti B. Surgical management of aortic valve injury after non-penetrating trauma. Ann Thorac Surg 1993;56:1426-1431.[Medline]
- Roman M.J., Devereux R.B., Kramer-Fox R., et al. Two-dimensional echocardiographic aortic root dimensions in normal children, and adults. Am J Cardiol 1989;64:507-512.[Medline]
- De Paepe A., Devereux R.B., Dietz H., et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417-426.[Medline]
- Gott V.L., Cameron D.E., Alejo D.E., et al. Aortic root replacement in 271 Marfan patients: a 24-year experience. Ann Thorac Surg 2002;73:438-443.[Abstract/Free Full Text]
- Lundenvall J. Mechanism of traumatic rupture of the aorta. Acta Pathol Microbiol Scand 1964;62:34-46.[Medline]
- van Heurn L.W.E., Hamerlijnck R.P.H.M., de la Reviere A.B., et al. Combined traumatic avulsion of the aortic valve and rupture of the left common carotid artery. Ann Thorac Surg 1992;54:157-158.[Abstract/Free Full Text]
- Ergin M.A., Spielvogel D., Apaydin A., et al. Surgical treatment of the dilated ascending aorta: when and how?. Ann Thorac Surg 1999;67:1834-1839.[Abstract/Free Full Text]
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Abstract
Introduction
