Asian Cardiovasc Thorac Ann 2003;11:349-351
© 2003 Asia Publishing EXchange Ltd
Cardiac Anomalies in Turner Syndrome
Emanuela Angeli, MD,
Davide Pacini, MD,
Gabriella Napoli, MD1,
Roberto Di Bartolomeo, MD,
Rossella Fattori, MD1,
Angelo Pierangeli, MD
Department of Cardiac Surgery
1 Department of Radiology, University of Bologna, Bologna, Italy
For reprint information contact: Emanuela Angeli, MD Tel: 39 051 636 3361 Fax: 39 051 345 990 email: apierangeli{at}orsola-malpighi.med.unibo.it Divisione di Cardiochirurgia, Università degli Studi di Bologna, Policlinico S. Orsola, Via Massarenti 9, 40138 Bologna, Italia.
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ABSTRACT
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This is the case of a 30-year-old woman with Turner Syndrome, with Mosaicism, exhibiting a bicuspid aortic valve with aortic stenosis, ascending aortic dilatation, pseudocoarctation of the aorta, left superior vena cava and lusoria subclavian artery. The successful surgical procedure consisted of the replacement of the aortic root and ascending aorta with a composite valved graft.
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INTRODUCTION
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Cardiovascular disease is the most common cause of death in adult women with Turner Syndrome.1,2 Left-sided congenital cardiac abnormalities are more prevalent in women with Turner Syndrome. Recently other cardiovascular risk factors have come to light, particularly the increased risk of aortic dissention. Bicuspid aortic valves, with or without aortic stenosis, have a high incidence and coarctation of the aorta which affects approximately 10% of women with Turner Syndrome.1
Aortic root dilatation occurs with a prevalence of between 8% and 42% and may lead to dissection and/or rupture3 which represent a clear contributor to increased morbidity and mortality.4 Other anomalies reported are hypoplasic left-heart syndrome, partial anomalous pulmonary venous drainage, and atrial septal defects. Even in those without congenital heart defects, a significantly increased risk of hypertension and cardiac morbidity may persist.
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CASE REPORT
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A 30-year-old woman with Turner Syndrome, with Mosaicism [45xo(94%0, 46xx(4%)], was admitted to our institute. She exhibited a bicuspid aortic valve with severe aortic stenosis, aortic root and ascending aortic dilatation, left superior vena cava and a lusoria subclavian artery. She had had a systolic murmur since birth and was subsequently diagnosed with Turner Syndrome. A cardiological evaluation was done, and a Turner Syndrome biscuspid aortic valve was diagnosed.
Since that time, she has been monitored through clinical examination and echocardiography. On admission she exhibited dyspnea. Trans-thoracic echocardiography showed severe aortic stenosis (aortic valve area: 0.7 cm)2 with a peak gradient of 80mm Hg, and dilatation of the aortic root. MR confirmed the aortic root and ascending aortic dilatation (maximum diameter: 41 mm) showing pseudocoarctation of the aorta, with no gradient between radial and femoral pressure. Furthermore, the superior vena cava and lusoria subclavian artery were found even though the patient had not manifested such symptoms (Fig. 1A, B
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Figure 1. (A) Sagittal spinecho MR image of the thoracic aorta: the sequence on an oblique sagittal plane shows severe dilatation of the ascending aorta and the tortuosity of the proximal descending segment (pseudocoarctation). (B) Gadolinium-enhanced MR Angiography: multiplanar volume reconstruction on a coronal plane shows the tortuosity of the isthmic aorta. The right subclavian artery originates from the descending aorta (subclavia lusoria).
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The estimated dimension at the level of the sinuses, calculated by means of the regression formula as described by Roman and associates 0.97+(1.12xBSAm2), was 2.5 cm.5 In view of these findings, she was deemed a candidate for an aortic root replacement. After sternotomy, a standard cardiopulmonary bypass was introduced with moderate hypothermia (32°C). Myocardial protection was achieved using anterograde cardioplegia, delivered selectively in the coronary ostia. An aortic root and ascending root replacement, with a composite valve graft using the "button technique"6 was successfully performed. Distal anastomosis was reinforced with inner and outer Teflon strips. Postoperative recovery was uneventful and the patient was discharged on the tenth day. Patholotical examination of the aortic wall showed an irregular degenerative process of the aortic media, with some areas displaying a disarray of elastic fibers, the accumulation of extra-cellular matrix components, and pseudocystic degeneration.
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DISCUSSION
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Aortic dilatation in Turner Syndrome patients, with or without the bicuspid aortic valve, has a 6.3% incidence3 and may occur at any age. The causes of aortic dilatation remain unknown, with the risk of aortic dissection or rupture being as high as 60%.1 Women with Turner Syndrome have a threefold increase in mortality, primarily as a result of cardiovascular complications.7
Several studies have demonstrated that aortic dilatation in Turner Syndrome patients may represent or be similar to an inherited disorder of connective tissue.3 Women with Turner Syndrome need long-term follow-up because of the high incidence of structural anomalies. In the aortic wall and the severity of related complications, primarily in aortic dissections. Hypertension should be treated aggressively because the association of aortic wall degeneration (frequently present in the aortic coarctation) can pose the risk of a fatal dissection.8 The exhibited risk factors, i.e. severe aortic valve stenosis, dilatation of the ascending aorta, aortic arch anomaly and pseudocoarctation, inclined us towards performing a timely replacement of the aortic valve, coupled with an elective replacement of the ascending aorta, so as to avoid a further high-risk operation.
This case might be useful in confirming the necessity for a careful evaluation of the surgical strategy for patients with Turner Syndrome. The disorder of connective tissue, as well as the association of different cardiovascular anomalies, could increase the risk of aortic dissection. Elective and early surgical treatment should be considered for these patients, bearing in mind that employing normal-range procedures for kartotypically normal women may produce, in Turner Syndrome patients, falsely reassuring results.1
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REFERENCES
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- Elskeikh M, Dunger DB, Conway GS, Wass JAH. Turner’s Syndrome in adulthood. 2002 Endocrine Reviews
23(1):120–40.[Abstract/Free Full Text]
- Price WH, Clayton JF, Collier S, De Mey R, Wilson J. Mortality ratios, life expectancy and causes of death in patients with Turner’s Syndrome. J Epidemiol Community Health
1986;40 (2):97–102.[Abstract/Free Full Text]
- Lin AE, Lippe B, Rosenfeld RG. Further delineation of aortic dilation, dissection and rupture in patients with Turner Syndrome. Paediatrics
1998;102(1) July, p.e12.
- Rosenfeld RG. Hypertension, aortic dilatation and aortic dissection in Turner Syndrome: a potentially lethal triad. Clinical Endocrinology
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- Ergin MA, Spielvogel D, Apaydin A, Lansman SL, McCullough JN, Galla JD, et al. Surgical treatment of the dilated ascending aorta: when and how? Ann Thorac Surg
1999;67:1834–9.[Abstract/Free Full Text]
- Kouchoukos NT, Marshall WG Jr, Wedige-Stecher TA. Eleven years’ experience with composite graft replacement of the ascending aorta and aortic valve. J Thorac Cardiovasc Surg
1986;92:691–705.[Abstract]
- Elsheikh M, Casadei B, Conway GS, Wass JAH. Hypertension is a major risk factor for aortic root dilatation in women with Turners Syndrome. Clin Endocrinol (Oxf).
2001;54(1):69–73.[Medline]
- Weytjens C, Bovè T, Van der Niepen P. Aortic dissection and Turners Syndrome. J. Cardiovasc Surg (Torino)
2000;41(2):295–7.[Medline]
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ABSTRACT
INTRODUCTION
