Asian Cardiovasc Thorac Ann 1999;7:138-141
© 1999 Asia Publishing EXchange Pte Ltd
Surgical Treatment of Siblings With Marfan Syndrome
Kaan Kirali, MD,
Necmettin Yakut, MD,
Mustafa Güler, MD,
Denyan Mansuro
lu, MD,
Suat Ömerolu, MD,
Esat Akinci, MD,
Ali Gürbüz, MD,
Cevat Yakut, MD
Department of Cardiovascular Surgery
Ko uyolu Heart and Research Hospital
Istanbul, Turkey
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For reprint information contact: Kaan Kirali, MD Tel: 90 216 325 5457 Fax: 90 216 339 0441 email: kosuyolu{at}superonline.com Department of Cardiovascular Surgery, Kouyolu Heart and Research Hospital, Kadiköy, Istanbul 81020, Turkey.
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Abstract
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Rupture of an ascending aortic aneurysm is the most common cause of death in patients with Marfan syndrome, while type-A aortic dissection is the second most common fatal lesion. The aortic root dimension and the rate at which it increases are the best indications for surgical treatment. We regard aortic enlargement to 5.5 cm as the upper limit of safety and we are inclined to advocate surgery at an earlier stage in high-risk families. We report our results of the surgical management of aortic aneurysm in the two siblings; a third sibling is currently being followed medically.
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Introduction
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Marfan syndrome is an autosomal-dominant hereditary connective tissue disorder with protean clinical manifestations involving the ocular, skeletal, and cardiovascular systems.1 When Marfan published the first report of this condition in 1896, he emphasized primarily the ocular and skeletal abnormalities.2 The cardiovascular aspects of Marfan syndrome were first described by McKusick3 in 1955. At the DNA level, all possible types of mutation have been identified in Marfan syndrome patients on the fibrillin gene on chromosome 15 and it has been shown that other mutations may lead to the Marfan phenotype, all linked to genes coding for microfibrillar proteins.4 The cardiovascular manifestations include aortic root dilatation, aortic valvular insufficiency, mitral valve prolapse, mitral regurgitation, aortic dissection, and aortic rupture.5 Rupture of an ascending aortic aneurysm is the most common cause of death in patients with Marfan syndrome, type-A aortic dissection is the second most common fatal lesion so the best approach to treatment is an elective operation before dissection occurs.6 We report our results of the surgical management of the aortic aneurysm in two siblings and details of a third sibling who is currently being followed medically.
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Case Reports
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A father and all four of his children inherited Marfan syndrome. The father and his eldest son died from the cardiovascular complications of Marfan syndrome. The surgical treatment of two of the three surviving siblings, the second eldest son and eldest daughter, is described in this report.
Case 1
The surviving son came to our clinic with symptoms of palpitation, dyspnea, and chest pain two years ago, when he was 26 years old. In addition to his positive family history of Marfan syndrome, he had the clinical findings of kyphoscoliosis, arachnodactyly, high arched palate, and myopia. A systolic murmur (2/6 degree) was heard at the fourth left intercostal space and a diastolic murmur (3/6 degree) was detected at the left sternal border. His was in atrial fibrillation. Chest radiography showed cardiomegaly and a dilated ascending aorta. Trans-esophageal echocardiography showed severe aortic regurgitation and mild mitral regurgitation. The aortic root was measured as 9.43 cm but there was no enlargement of the aortic arch or descending aorta and no evidence of aortic dissection (Figure 1
). His left ventricular function was good, with an ejection fraction of 50%. He was in New York Heart Association functional class II.
Elective surgery was performed under cardiopulmonary bypass established via the right femoral artery and two-stage venous cannulation of the right atrium. Left heart venting was carried out through a left atrial vent. Continuous retrograde blood cardioplegia was used for myocardial protection. The temperature was reduced to 26°C. The pericardium was opened and the ascending aorta was separated from the main pulmonary artery. A 15-cm long section of the ascending aorta was observed to be enlarged to 10 cm in width (Figure 2). When the ascending aorta was opened, no false lumen or thrombosis was found. The aortic anulus was dilated. The mitral valve was tested through the aorta and coaptation of the leaflets was found to be good. After resection of the aortic valve and the ascending aorta, the technique of Bentall and De Bono7 was performed with a monoleaflet prosthetic valve (Sorin no. 25; Sorin Biomedical Inc., Irvine, CA, USA) and a 28-mm Hemagard tubular graft (Intravascular SA, La Ciotat, France). The coronary ostia were anasto-mosed to the graft using 7/0 polypropylene running sutures. The patient made a good recovery and has been followed up for 2 years by echocardiography (Figure 3).
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Figure 2. Intraoperative view (case 1) showing enlargement of the aortic root beginning at the sinuses of Valsalva and reaching its largest dimension of 15 x 10 cm at the ascending aorta above the coronary ostia.
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Figure 3. Echocardiogram two years postoperatively (case 1) showing the composite aortic graft and the prosthetic valve.
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Case 2
The eldest daughter was examined at the age of 21 years during an examination of the entire family following her brother's operation. She had kyphoscoliosis, arachno-dactyly, a high arched palate, mild pectus excavatum, and myopia. Cardiovascular examination was normal except for a diastolic murmur (3/6 degree) along the left sternal border. Her electrocardiograph showed sinus rhythm. Chest radiography showed cardiomegaly and dilation of the ascending aorta. Echocardiography revealed an enlargement of the aortic root to 15.6 cm, aortic regurgitation (3/4 degree), mitral valve prolapse with mild mitral regurgitation, and a secundum atrial septal defect. Her left ventricular ejection fraction was 50% and she was in New York Heart Association functional class I. She underwent elective surgery as described in case 1.
There was an enlargement of the ascending aorta, measuring 15 x 15 cm. Initially, the atrial septal defect was closed with 4/0 polypropylene suture. When the ascending aorta was opened, it was observed to be dissected over the coronary ostia. The mitral valve was tested through the aorta and good coaptation of the leaflets was found. After resection of the aortic valve and the ascending aorta, a composite graft repair was performed (Bentall and De Bono procedure) with a monoleaflet prosthetic valve (Ultracor no. 25; AorTech Europa Ltd, Strathclyde, Scotland, UK) and a 28-mm Hemagard tubular graft. The coronary ostia were anastomosed to the graft. With the temperature decreased to 19°C, the cardiopulmonary bypass pump was stopped and the aortic arch was investigated directly during circulatory arrest. The aortic arch was found to be intact and it was anastomosed to the distal end of the graft. The patient made a good recovery. At follow-up after one year, echocardiography showed normal heart function.
Case 3
The youngest daughter was examined at the age of 19 years and found to have an enlargement of the aortic root measuring 4.9 cm. She had kyphoscoliosis, arachno-dactyly, and a high arched palate. She was asymptomatic with a blood pressure of 100/60 mm Hg and a heart rate of 88 beats•min–1 and is currently being followed medically at our clinic. However, at the last echocardiographic examination, her aortic root dimension was found to be 5.2 cm and she has been scheduled for surgery in the near future.
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Discussion
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Marfan syndrome occurs with a frequency of 1/10,000 in all populations and it is often undiagnosed during life. The prevalence of a positive family history has been reported as 65% to 80%.5 Current criteria for diagnosis depend on manifestations in the cardinal organ systems (the eye, the skeleton, the heart, and the aorta) as well as the family history. The most common cardiovascular features are mitral valve prolapse and dilation of the sinuses of Valsalva.5 The cardiovascular sequelae of fibrillin deficiency appear to relate directly to weakening of the supportive tissues. Mitral valve prolapse and mitral valve annular dilation are age dependent and more common in women and children with Marfan syndrome. Aortic disease is a serious cardiovascular manifestation in individuals with Marfan syndrome and a potentially fatal complication.8 Aortic root dilation may be the initial aortic abnormality, consisting of dilation of the sinuses of Valsalva as well as expansion of the sino-tubular junction and the aortic annulus. The histopathology of the aortic wall is characterized by widespread fragmentation of the elastin component and the elastin fibers are often thin. Aortic dissection, which is common in Marfan syndrome, is usually due to an intimal tear in the proximal ascending aorta with the dissection involving the sino-tubular junction and aortic sinuses, resulting in prolapse of one or more commissures. However, the dissection never crosses or involves the annulus or cusps. Aortic valvular insufficiency results from progressive annular dilatation or acute aortic dissection. If such patients are not treated, associated clinical problems of aortic regurgitation and aortic dissection account for most of the early mortality and the usual age at death is in the fourth or fifth decades.9 Rupture of an ascending aortic aneurysm is the most common cause of death in older Marfan syndrome patients and type-A aortic dissection is the second most common fatal lesion.10
Management of such patients should aim to prevent symptoms, limit the risk of rupture, and prevent secondary irreversible structural changes. The only guidance to be found in the literature to help identify patients most at risk is the dimension of the aortic root. This can be obtained easily and noninvasively in most patients by transthoracic echocardiography.6 Echocardiographic evidence of cardiovascular involvement exists in over 95% of adults with Marfan syndrome.5 The annual increase in aortic size is greater in patients with aortic complications or a family history of aortic dissection. The growth rate ranges from 0.1 to 0.3 cm per year in patients with complications and from 0 to 0.3 cm per year in patients without complications.11 A trend towards more frequent complications in patients with a family history of major complications before the age of 40 years has also been observed.11 Surgical reconstruction is the only definitive method of managing this problem. Aortic regurgitation often appears in adults with an aortic annular diameter of 50 mm. The risk of dissection increases with the size of the aorta (above 55 mm) and many surgeons have adopted the criterion of a 50 to 55 mm maximal aortic root dimension for performing elective composite graft repair in patients with Marfan syndrome, although patients with a family history of aortic dissection should have surgery at the lower end of this range. Pyeritz8 demonstrated that a positive family history of dissection is a strong predictor of aortic dissection. In this family, the father and eldest son died from Marfan syndrome in their fourth decades.
The ideal operation for this condition should eliminate all abnormal tissue, thereby preventing or minimizing the risk of aneurysmal recurrence or rupture. We believe that the surgical procedure of choice for patients with Marfan syndrome who have an ascending aortic aneurysm, with or without dissection, should be ascending aorta replacement with the combination of aortic valve replacement and coronary ostial reimplantation as described by Bentall and De Bono7 in 1968. This approach is preferred to prevent progressive dilatation of the sinuses of Valsalva, which could manifest as aortic insufficiency in patients who undergo other procedures such as annuloplasty, aortoplasty, end-to-end primary aortic anastomosis, or isolated aortic valve replacement.12 Aortic valvular reparative procedures appear to be unsuitable in Marfan patients because of the high likelihood of progressive annular or sinus dilatation leading to aortic valvular insufficiency. The aortic root dimension and its rate of increase are the best indications for surgery. We regard 5.5 cm as the upper limit of safety and we are inclined to advocate surgery at an earlier stage in high-risk families.
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References
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Pyeritz RE, McKusick VA. The Marfan syndrome: diagnosis and management. N Engl J Med 1979;300:772–7.[Medline]
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Marfan AB. Un cas de déformation congenitale des quatres membres, plus prononcée aux extremites, caracterisée par l'allongement des os avec un certain degré d'amincussement. Bull Soc Chir Paris 1896;13:220–5.
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McKusick VA. The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue. Circulation 1955;11:321–42.[Medline]
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Peltenon L. Genetic basis of Marfan syndrome. In: Hetzer R, Gehle P, Ennker J, editors. Cardiovascular aspects of Marfan syndrome. Darmstadt: Steinkoff Verlag, 1995;12:9–15.
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Marsalese DL, Moodie DS, Vacante M, Lytle BW, Gill CC, Sterba R, et al. Marfan's syndrome: natural history and long-term follow-up of cardiovascular involvement. J Am Coll Cardiol 1989;14:422–8.[Abstract]
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Bentall HH, De Bono A. A technique for complete replacement of the ascending aorta. Thorax 1968;23:338–9.[Abstract/Free Full Text]
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Pyeritz RE. The Marfan syndrome: current and future clinical and genetic management of cardiovascular manifestations. Semin Thorac Cardiovasc Surg 1993;5:11–6.[Medline]
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Murdoch JL, Walker BA, Halpern BL, Kuzma JW, McKusick. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med 1972;286:804–8.
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Smith JA, Fann JI, Miller DC, Moore KA, DeAnda A, Mitchell RS, et al. Surgical management of aortic dissection in patients with the Marfan syndrome. Circulation 1994,90(Suppl II):235–42.
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Roman MJ, Rosen SE, Kramer-Fox R, Devereux RB. Prognostic significance of the pattern of aortic root dilatation in the Marfan syndrome. J Am Coll Cardiol 1993;22:1470–6.[Abstract]
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Abstract
Introduction
