An unusual case of aortic dissection in Turner's syndrome

Cardiovascular malformations are common in patients with Turner's syndrome. Aortic coarctation and bicuspid aortic valve are the most frequently occurring abnormalities, and are associated with cystic medial necrosis of the aortic wall. Aortic dissection is an uncommon but catastrophic complication of the 'aortopathy' of Turner's syndrome. We report the unusual case of a Turner's syndrome patient (with a bicuspid aortic valve and previous coarctation repair) who died following an intramural haemorrhage of the aortic root that was complicated by dissection and rupture, with no evidence of aortic intimal tear. The role of intramural haemorrhage in the pathogenesis of acute aortic syndromes in Turner's syndrome patients is unclear. The condition may be associated with atypical clinical presentations, it can be difficult to confirm with imaging techniques, and it carries a high risk of progression to classical aortic dissection and death. This case therefore highlights the need for a high index of suspicion when assessing Turner's syndrome patients presenting with chest pain syndromes. Furthermore, the effective management of Turner's syndrome patients with cardiovascular abnormalities requires the development of evidence-based preventive (such as echocardiographic surveillance of aortic dilatation) and interventional strategies.     

Chronic dissecting aortic aneurysm and Turner's syndrome. Apropos of a case]

Turner's syndrome is a genetic abnormality which is associated with cardiovascular anomaly in 20% of cases. Coarctation of the aorta and bicuspid aortic valve are the commonest malformations. Aortic dissection is the most serious complication affecting these patients. The authors report the case of chronic aortic dissection of the ascending and transverse aorta in a 27 year old patient with Turner's syndrome. The dissection was diagnosed on angiography. Transthoracic echocardiography showed aneurysmal dilatation of the aortic root. Surgical treatment consisted in replacement of ascending and transverse aorta with a Dacron tube. The anatomopathological analysis showed cystic medianecrosis of the aortic wall. The immediate postoperative evolution was satisfactory. The long-term outcome with a 4 year follow-up was excellent from the clinical and echocardiographic point of view. Turner's syndrome is probably associated with a congenital abnormality of the connective tissue especially of the elastic fibres of the aortic wall, explaining the development, though rare, of aneurysmal dilatation of the ascending and transverse aorta and dissection. These patients should be followed up regularly clinically and by transthoracic echocardiography. Other investigations such as transoesophageal echocardiography, magnetic resonance imaging and angiography are indicated when aortic dilatation, aortic regurgitation or chest pain suggesting aortic dissection are observed.     

Heart malformations and vascular complications associated with Turner's syndrome. Prospective study of 26 patients

Turner's syndrome is associated with congenital heart disease in a third of cases. Several reports of aortic dilatation and of death by dissection or rupture of the aorta have been published. The authors undertook a prospective study to assess the incidence of cardiac malformations and aortic dilatation in genetically confirmed Turner's syndrome. Twenty-six out of 34 patients recalled (76%), aged 7 to 30 years (average 17 +/- 6 years) accepted their inclusion in this study and underwent clinical examination, ECG, chest X-ray and echocardiography. Thirteen patients had a monosomy 45X and 13 a mosaic or structural abnormality. Six had a history of cardiovascular disease (operated coarctation: 2 cases, kinking: 2 cases, Hypertension: 2 cases). Eight patients (30%) had one or several anatomical cardiovascular abnormalities: bicuspid aortic valve (19.2%), abnormalities of the aortic isthmus (kinking or coarctation) (15.4%), aortic regurgitation (7.7%), mitral stenosis (3.8%), partial anomalous venous drainage (3.8%), patent ductus arteriosus (3.8%) and left superior vena cava (11.5%). Systematic evaluation of the aorta resulted in the diagnosis of dilatation of the ascending aorta in 1 case and dilatation of the sinus of Valsalva in 2 other cases. The authors conclude that echocardiographic evaluation is essential after the diagnosis of Turner's syndrome. It should be repeated regularly to detect dilatation of the aorta which carries the risk of serious complications, such as rupture or dissection of the aorta.     

升主动脉成形术治疗二叶式主动脉瓣患者升主动脉扩张的效果分析

目的:探讨升主动脉成形术(reduction ascending aortoplasty,RAA)治疗二叶式主动脉瓣(bicuspid aortic valve,BAV)患者升主动脉扩张的临床效果。方法:回顾性分析2006年1月至2015年12月长海医院208例因主动脉瓣病变合并升主动脉扩张行主动脉瓣置换术(aortic valve replacement,AVR)联合RAA治疗患者的临床资料。根据患者主动脉瓣情况,分为BAV组和三叶式主动脉瓣(tricuspid aortic valve,TAV)组;在BAV组中,根据术中升主动脉的目标直径,将患者分为30 mm组和≥30 mm组。结果:BAV组与TAV组的术后死亡率、并发症发生率、二次手术比例和随访升主动脉直径等指标差异无统计学意义(P均0.05);BAV组术中升主动脉目标直径30 mm组的随访升主动脉直径、术后5年和9年升主动脉扩张程度均明显小于术中升主动脉≥30 mm组(P均0.05)。结论:对于BAV合并升主动脉扩张的患者,BAV不是行RAA的不利因素,在RAA术中将升主动脉目标直径控制在30 mm以下,中远期疗效更好。     

Hypertension is a major risk factor for aortic root dilatation in women with Turner's syndrome

Women with Turner's syndrome (TS) have a threefold increase in mortality, primarily as a result of their cardiovascular complications. Recently, the risk of fatal aortic dissection has come to light as a major cause of mortality in women with TS. The aim of this study was to assess the prevalence of aortic root dilatation in a group of women with TS and to investigate the factors contributing to its development. Thirty-eight women with TS attending a dedicated adult Turner clinic were examined clinically and by M-mode and two-dimensional echocardiography on at least one occasion. Aortic root dilatation was defined as an aortic root diameter greater than the 95th centile for body surface area. Fasting serum lipid concentrations were measured in all women. Additionally, 18 subjects underwent noninvasive assessment of central arterial stiffness using applanation tonometry. Fifty percent of subjects were hypertensive and a similar number had an abnormal echocardiogram. A bicuspid aortic valve was present in 33% of subjects, 16 women (42%) had ascending aortic root dilatation. This was associated with a bicuspid aortic valve in four women and hypertension in 11. Two women had isolated aortic root dilatation. Aortic root diameter was significantly associated with systolic blood pressure (r = 0.5, P = 0.003) and left ventricular thickness (r = 0.5, P = 0.02). There was no association with serum lipids or arterial compliance. Structural cardiac abnormalities are present in up to 50% of women with Turner's syndrome. Aortic root dilatation is a significant risk in women with Turner's syndrome and is closely dependent on blood pressure. Aortic root dilatation does not appear to be related to atherosclerosis and is more likely to be due to a mesenchymal defect. Regular surveillance of the aortic root diameter is essential in all women with Turner's syndrome and hypertension should be treated aggressively when present in order to minimize the risk of potentially fatal aortic dissection.     

Detection of aortic dissection by magnetic resonance imaging in adults with Marfan''s syndrome

Marfan's syndrome is a connective tissue disorder, which mainly affects the cardiovascular system, together with ocular, skeletal and connective tissue. The cardiovascular manifestations in particular determine the mortality of this disorder. We studied 13 patients, suffering of Marfan's syndrome, with suspected aortic dilatation by means of magnetic resonance imaging (MRI). Aneurysmal dilatation of the aortic root and dissection were the two major findings in our study. Two of the five patients with dissections presented without relevant symptoms in the medical history nor at the time of the MRI examination.Abbreviations AD descending aorta - LAO left anterior oblique - MRI magnetic resonance imaging - PA prearch - SV sinus Valsalvae - SD standard deviation     

Atypical echocardiographic findings in traumatic aortic transection

Aortic rupture and transection are constituents of the acute aortic syndrome. Injury to the thoracic aorta during motor vehicle crashes is associated with blunt chest trauma and rapid deceleration mechanisms. Type A dissections and/or rupture of the aorta at the level of the aortic isthmus are the more common presentations of aortic injuries associated with motor vehicle crashes. We present the case of atypical echocardiographic findings of a nearly complete circumferential transection of the proximal ascending aorta injury after a motorcycle crash.     

Cardiovascular abnormalities in Turner's syndrome: What prevention?

Cardiovascular complications in Turner's syndrome are the most common cause of excess early mortality, with a life expectancy that may be reduced by more than 10 years. Congenital cardiac abnormalities are described in approximately one third of patients. These abnormalities are mostly left heart obstructions, the most common of which are bicuspid aortic valve (16%) and coarctation of the aorta (11%). Dilatations of the ascending aorta are often described and may occur in isolation from any heart disease, suggesting a vasculopathy specific to the syndrome, probably predisposed to by extracardiac risk factors such as oestrogen deficiency, diabetes, dysplidaemia and overweight. The most feared complication is aortic dissection with around a 100 cases, described at average age of approximately 35-years-old. This is believed to complicate 2% of induced pregnancies. Hypertension (HBP) usually essential, affects up to 50% of patients with Turner's syndrome. This is an important risk factor for cardiovascular complications and justifies aggressive treatment. On the other hand, retrospective studies have not demonstrated adverse cardiological effects due to growth hormone treatments. Patients with Turner's syndrome merit regular cardiology follow-up from childhood onwards, particularly if they have treated heart disease. The merits of preventative treatments for aortic dilatation have not been demonstrated in Turner's syndrome and justify prospective trials.     

Turner's syndrome and cardiovascular anomalies: a case report and review of the literature

Turner's syndrome is a genetic disease in which many cardiovascular anomalies have been reported, coarctation of the aorta being the most frequent. The most serious complication that can arise from these abnormalities is aortic dissection. The authors present an unusual case of Turner's syndrome with an aortic sinus aneurysm and severe aortic insufficiency in the absence of coarctation of the aorta. The various cardiovascular anomalies seen in Turner's syndrome, such as coarctation of the aorta, bicuspid aortic valve, aortic dissection, aortic sinus aneurysm and ascending aorta aneurysm, can best be understood on a common basis of congenital structural abnormalities involving the aorta and the aortic valve. The only evidence available for such an abnormality is the presence of cystic medial necrosis in the affected vascular tissues.     

Pseudocoarctation of the aortic arch in a patient with Turner's syndrome

Pseudocoarctation of the aortic arch is a rare congenital anomaly which resembles true coarctation by the presence of a narrowing in the descending thoracic aorta immediately distal to the origin of the left subclavian artery. However, it is differentiated from that entity by the absence of a significant hemodynamic obstruction and by the presence of aneurysmal dilatation proximal and distal to the area of narrowing. As a result, the commonly observed clinical findings of coarctation such as a prominent collateral circulation and decreased blood pressure in the lower extremities are not observed. "Kinking" or "buckling" are common adjectives used to describe the roentgenographic appearance of the aortic arch in this condition. The association of various congenital cardiac abnormalities with pseudocoarctation has been reported, and are similar to those commonly seen with true coarctation. We now present the first reported case of pseudocoarctation associated with a probable bicuspid aortic valve in a patient with Turner's syndrome.     

The relationship between serum apelin levels and aortic dilatation in bicuspid aortic valve patients

Objective: The bicuspid aortic valve (BAV) is the most common congenital heart dis‐ ease. The process of aortic dilatation is not completely clear in patients with the BAV. Apelin is a peptide found at high levels in vascular endothelial cells which has a role in vascular regulation and cardiovascular function. The aim of this study was to de‐ termine the relationship between serum apelin levels and ascending aortic dilatation in adult patients with BAV.
Design: This cross‐sectional study included 62 patients with isolated BAV and to an age, gender, and body mass index‐matched control group of 58 healthy volunteers with tricuspid aortic valve. Transesophageal echocardiography was performed on all patients to determine the type of BAV. Aortic diameters of the aortic root, sinus val‐ salva, sinotubular junction, and ascending aorta were evaluated with echocardiogra‐ phy. Patients with BAV were divided into two subgroups according to the aortic diameters, as the nondilated BAV group and the dilated BAV group. Serum apelin level was analyzed with ELISA method.
Results: The serum apelin levels of the BAV patients were significantly lower than those of the control group (833.5, 25th‐75th percentile (713.5‐1745) pg/dL vs 1669 (936‐2543) pg/dL; P = 0.006). In the subgroup analysis, serum apelin level was signifi‐ cantly different between the nondilated BAV group and the dilated BAV group [977 (790‐2433) pg/dL vs 737 (693‐870) pg/dL, P < 0.05] and between the dilated BAV group and the control group [737 (693‐870) pg/dL vs 1669 (936‐2543) pg/dL, P < 0.001]. In multivariate logistic regression analysis apelin [7.27 (95% CI: 1.73‐30.42), P = 0.007] and age [1.05 (95% CI: 0.99‐1.20), P = 0.049] were determined as inde‐ pendent predictors for ascending aortic dilatation.
Conclusion: Low serum apelin level was associated with dilatation of ascending aor‐ tic in BAV patients. However, apelin was not relevant to BAV without aortic dilatation.     

Prolapse of the "floppy" aortic valve as a cause of aortic regurgitation. A clinico-morphologic study

A clinico-pathologic study was performed in 25 patients undergoing aortic valve replacement because of regurgitation, caused by myxoid degeneration of the valve leaflets. Associated cardiac anomalies were floppy mitral valve (2 cases), floppy mitral valve and idiopathic hypertrophic subaortic stenosis (1), left atrial myxoma (1), and aortic coarctation at the isthmus (1). Three patients died (2 immediately and 1 on the 30th postoperative day). Pathological studies of the explanted valves showed deformities characterized by redundant thin leaflets which appeared soft and gelatinous. On histologic examination the fibrous layer of the leaflets was seen to be infiltrated by myxomatous tissue. Echocardiography showed the aortic root to be dilated in 13 patients and normal in the others. In those with normal aortic root, the histological examination of aortic wall disclosed minimal cystic medial necrosis in two cases. In contrast, more severe forms of cystic medial necrosis were evident in all patients having a dilated aortic root. Aortic valve replacement was performed in all cases. It was accompanied by a Bentall procedure (1 case), repair of ascending aorta dissection (2), replacement of the ascending aorta (1), mitral valve replacement (2), mitral valve replacement and apico-ascending aorta conduit (1) and excision of a left atrial myxoma (1). Our experience suggests that prolapse of the aortic valve due to floppy leaflets is a common degenerative disease which is generally associated with noninflammatory aortic root degeneration. This, together with aortic root dilatation, contributes to valve insufficiency. Nevertheless, the disease, when isolated (with normal aortic root), is liable in itself to produce aortic regurgitation. The need for early diagnosis is stressed, so as to be able to perform valve replacement.     

Ascending aortic aneurysm and dissection in young adults with bicuspid aortic valve: Implications for echocardiographic surveillance

Bicuspid aortic valve (BAV) is an independent risk factor for aneurysm and dissection of the ascending aorta. Despite this association, routine imaging of the aorta has not been recommended for patients with BAV. We describe two young men who developed life-threatening aneurysm or dissection of the ascending aorta; one had a normally functioning BAV and the other was 10 years after valve replacement. The pathology of this condition is very similar to that found in the Marfan syndrome. We recommend echocardiographic surveillance of the ascending aorta at regular intervals, and consideration of beta-adrenergic blockade among patients with significant dilation.     

A dissecting aortic aneurysm in a female patient with Turner syndrome

Female phenotype, sexual infantilism, small stature and stigmatization are typical for patients with Turner's syndrome (TS). The most frequent cardiovascular manifestations in these patients are a bicuspidal aortal valve and coarctation of the aorta. In 5% patients dilatation of the aorta is found which can develop into a dissecting aneurysm. In the submitted case-history the authors describe a 34-year-old patient where the diagnosis of TS was proved only in adult age at the time when a dissecting aneurysm of the aorta was detected. The submitted case-history supports the recommendation of regular echocardiographic check-up examinations of patients with TS.     

Aortic stiffness and diameter predict progressive aortic dilatation in patients with Marfan syndrome.

AIM: Patients with Marfan syndrome may develop dissection due to progressive dilatation in the entire aorta, which is not always predictable by mere anatomic assessment of the aortic diameter, especially of the descending aorta. The aim of this study was to identify the predictive value of aortic stiffness on the occurrence of dissection and progressive aortic dilatation. METHODS AND RESULTS: In 78 non-operated patients with Marfan syndrome (mean age 31+/-8 years, mean aortic root diameter 43+/-6 mm, range 31-55 mm) aortic stiffness and diameters were assessed by magnetic resonance imaging (MRI) at multiple levels. After a median follow-up of 71 months (25-75%: 68-72 months) a second MRI was performed and the incidence of aortic dissection and progressive aortic dilatation, defined as mean aortic diameter increase >1 mm/year was determined. During follow-up, 4 (5%) of 78 patients developed an aortic dissection (1 type A, 2 type B, and 1 infra-renal dissection). Twenty (26%) of the 78 patients had progressive aortic root dilatation. There were 5 (6%) patients with progressive descending thoracic aortic dilatation and 6 (7%) with progressive abdominal aortic dilatation. Multivariate logistic regression analysis revealed that local distensibility was an independent predictor of progressive thoracic descending aortic dilatation (OR=4.14, 95% CI, 1.02-16.7). For progressive aortic root and abdominal aortic dilatation local initial diameter appeared to be the major predictor (OR=1.37, 95% CI, 1.16-1.62; OR=1.36, 95% CI, 1.09-1.69, respectively). CONCLUSION: In patients with Marfan syndrome both aortic diameter and aortic distensibility are independent predictors of progressive aortic dilatation. For optimal risk assessment and monitoring of patients with Marfan syndrome, both aortic stiffness and diameter should be assessed at least annually.     

Coarctation and related aortic arch anomalies in hypoplastic left heart syndrome

The aortic arches of 34 specimens with hypoplastic left heart syndrome were studied in order to establish the frequency, the nature and the clinical implications of aortic arch anomalies. A localized aortic coarctation was present in 23 specimens. The coarcation was located preductally in 2 and paraductally in 21 cases. The degree of obstruction caused by the coarctation varied considerably. In only 6 cases (1 preductal and 5 paraductal) was the obstruction judged to be severe. One of these cases had an additional aneurysm of the aortic wall proximal to the coarctation. An aberrant relation of the ductus arteriosus and the aortic arch was found in 2 specimens without localized coarctation. In the remaining 9 specimens the aortic arch appeared normal. The aortic arch anomalies were mostly present in specimens with a severely hypoplastic ascending aorta. Clinicians, when preparing infants with hypoplastic left heart syndrome for surgical palliation, should always suspect associated aortic arch anomalies, especially when there is severe hypoplasia of the ascending aorta. Coarctation of the aorta will require additional surgical treatment.     

Clinical and epidemiological description of aortic dissection in Turner's syndrome

BACKGROUND: Women with Turner's syndrome have an increased risk of congenital cardiac malformations, ischaemic heart disease, hypertension and stroke. Aortic dissection seems to occur with increased frequency. AIM: To describe in more detail aortic dissection as encountered in Turner's syndrome, giving attention to clinical, histological and epidemiological aspects. MATERIALS AND METHODS: Based on a retrospective study, we describe the clinical, karyotypic, and epidemiological aspects of aortic dissection as encountered in cases of Turner's syndrome seen in Denmark and Sweden. RESULTS: The median age at onset of aortic dissection in 18 women was 35 years, ranging from 18 to 61 years. Fourteen of 18 women had a 45,X karyotype, while 2 patients had 45,X/45,XY, and 2 had the 45,X/46,X+r(X) complement, respectively. Echocardiography was performed in 10 of 18 patients before their acute illness, and showed signs of congenital cardiac disease, with either bifoliate aortic valves, dilation of the aortic root, or previous aortic coarctation evident in most patients. In 5 patients evidence of a bifoliate aortic valve was conclusive. Hypertension was present in 5 of 18 patients, while 10 of the patients died from aortic dissection, of so-called type A in 6, type B in 3, while in the final case the origin of dissection could not be determined. Biochemical analysis showed altered ratio between type I and type III collagen. Histology showed cystic medial necrosis in 3 of 7 cases. We estimated an incidence of dissection of 36 per 100,000 Turner's syndrome years, compared with an incidence of 6 per 100,000 in the general population, and a cumulated rate of incidence of 14, 73, 78, and 50 per 100,000 among 0-19, 20-29, 30-39, and 40+ year olds, respectively. CONCLUSION: Aortic dissection is extremely common in the setting of Turner's syndrome, and occurs early in life. Patients with Turner's syndrome should be offered a protocol for clinical follow-up similar to that provided for patients with Marfan syndrome, and each clinic should embrace a programme for follow-up.     

Diagnostic significance of three‐dimensional echocardiography in asymptomatic unicuspid aortic valve

Unicuspid aortic valve (UAV) is a rare congenital anomaly of aorta associated with a faster progress of valvular dysfunction, aortic dilatation and with necessity for more frequent controls and precise evaluation Asymptomatic 35 year old man had abnormal systolic diastolic murmur on aortic valve during routine examination. Initial diagnostic with transthoracic echocardiography (TTE) supposed bicuspid aortic valve, while three‐dimensional transesophageal echocardiography (3D TEE) and multidetector computed tomography defined unicuspid, unicomissural aortic valve with moderate aortic stenosis and regurgitation. This case report confirmed that 3D TEE gives us opportunity for early, improved and precise diagnosis of UAV.     

Abdominal aortic dilatation in Japanese residents

The correlation between abdominal aortic dilatation and arteriosclerotic risk factors was studied in 2514 Japanese residents (947 men, 1567 women, mean age 70 years old). The aortic diameter was measured by ultrasound and an aortic dilatation was defined as above 30 mm in diameter, including abdominal aortic aneurysm (AAA). Forty-three (1.7%) patients with a dilated aorta and 2471 with a normal-sized aorta were compared. Abdominal aortic dilatation was significantly (p<0.01) more frequent in men than in women (3% vs 0.7%). Obesity and hyperlipidemia were slightly (p<0.1) more frequent in patients with a dilated aorta than in those with a normal-sized aorta. There were no significant differences between the two groups in mean age, frequency of smoking, diabetes mellitus, and coronary artery disease. In conclusion, male obesity and hyperlipidemia may be risk factors for aortic dilatation in Japan. Women may not be screened because of cost-effectiveness. The prevalence of aortic dilatation in Japan was lower than in European countries. However, screening for AAA using ultrasound would be advantageous when considering the grave prognoses of ruptured AAA.     

Magic syndrome and true aortic aneurysm

Magic syndrome is a very uncommon disease, and vascular involvement is exceptional; only one case has been reported in the literature associated to a true aortic aneurysm. The treatment of aneurysms recommended in these patients is based on isolated cases and includes corticosteroids, other immunosuppressant drugs, and surgery. We report a case of a patient with Magic syndrome who developed aneurysm at the end of the aorta during treatment with infliximab, corticosteroids, and cyclosporine and who needed endovascular prosthesis implantation. After 12 months, she suffered an aneurysm of the ascending aorta, dilatation of the sinotubular junction, and severe aortic insufficiency, which forced surgery. During this time, the patient finally died.