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.     

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.     

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.     

Aortic dilatation resulting in chronic aortic regurgitation and complicated by aortic dissection in a patient with Turner's syndrome

A patient with XO Turner's syndrome with a 12-year history of progressive aortic root dilatation resulting in chronic aortic regurgitation is presented. Her case is unique in that it occurred in the absence of coarctation of the aorta, bicuspid aortic valve, or hypertension. Idiopathic dilatation of the aorta may be an additional risk factor to the development of aortic dissection in the setting of Turner's syndrome.     

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.     

The bicuspid aortic valve

The bicuspid aortic valve affects 1 to 2% of the population and may be complicated by aortic stenosis or aortic insufficiency and infective endocarditis. The bicuspid aortic valve is associated with abnormalities of the aortic wall such as coarctation of the aorta, aortic dissection, and aortic aneurysm. Most patients with a bicuspid aortic valve will develop some complication during life. Individuals with a bicuspid valve may be unaware of its presence and are at risk for unsuspected complications. Aortic wall abnormalities associated with bicuspid aortic valve are due to cystic medial necrosis. This process is associated with increased metalloproteinase activity and apoptosis of vascular smooth muscle cells. The clinical correlates of aortopathy in the bicuspid aortic valve include significant enlargement of the ascending aorta with aneurysm formation and dissection. This process continues after valve replacement. The person with bicuspid aortic valve requires continuous surveillance to treat associated lesions and prevent complications.     

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 dissection in a young woman with Turner's syndrome

Aortic dissection is an extremely rare occurrence often associated with fatal consequences. Among women suffering from Turner's syndrome, a mosaic of cardiovascular anomalies, some congenital, are often reported. Among these abnormalities, the conjunction of dilatation of the aorta with hypertension may lead to aortic dissection. A high level of clinical follow-up is necessary on a lifetime basis in order to diagnose such patients on time, which will allow preventive surgical intervention. Successive echocardiographic surveillance of these patients is recommended in addition to aggressive antihypertensive therapy in order to minimize potential morbidity and mortality as much as possible. If aortic dissection is diagnosed on time, surgical intervention can be lifesaving. In this communication, we report on a patient whose diagnosis was missed and consequently expired due to severe aortic dissection.     

Aortic coarctation and aneurysms of the ascending aorta

Dissection and rupture of the aorta account for 20% of death in the natural history of aortic coarctation. We describe here in four patients in whom an ascending aortic aneurysm was associated with aortic coarctation. Three patients had aortic valve incompetence. In two cases there was a dissection. This had not been recognized preoperatively in one, in whom the intimal tear was small; in the other patient, with dissection and shock, the associated mild coarctation was demonstrated only at autopsy. Surgical treatment of patients with aortic coarctation and associated aortic aneurysm must include resection of both the stenotic isthmus and dilated section of the aorta, because of a documented poor prognosis. Furtherly, when evaluating patients with aortic dissection a coexisting coarctation although infrequent must be ruled out. If such an association is identified in emergency cases the dissected aorta should be repaired first, employing a suitable technique (double arterial cannulation, above and below the isthmus) in order to ensure adequate perfusion. When there is no acute dissection, repair of the coarctation should be undertaken first.     

Noonan's syndrome with an unusual combination of hypertrophic cardiomyopathy, congenital bicuspid aortic valve, coarctation of the aorta and hypoplastic aortic arch

Noonan's syndrome is characterized by craniofacial anomalies, i. e. ptosis, webbing of the neck and a deep nuchal hairline, as well as skeletal deformities such as short stature, clinodactyly, pectus carinatum and funnel chest and other organ anomalies, mainly cardiac valve disease, less often testicular retention or kidney malformations. Noonan syndrome presents with aspects similar to Ullrich-Turner syndrome, but can be found in both male and female patients. In about one half of the patients with Noonan's syndrome cardiovascular anomalies occur, mostly anomalies of the right heart (mainly valvular pulmonary stenosis). Aortic stenosis and coarctation of the aorta are rarely seen. We report on a patient with four sequential potentially stenosing and stenosed parts of the proximal systemic circulation: hypertrophic cardiomyopathy, bicuspid aortic valve, coarctation of the aorta and a hypoplastic aortic arch as a part of Noonan's syndrome. This patient presents with a unique combination of anomalies, as he also shows a Madelung like deformity of the wrist.     

Cardiovascular malformations in Turner's and Noonan's syndrome.

The cardiovascular findings in 9 patients with Turner's syndrome and 9 patients with Noonan's syndrome are described. Of the 9 patients with Turner's syndrome, 4 had coarctation of the aorta, 4 aorta stenosis, and the remaining patient both these lesions. All patients with Noonan's syndrome had pulmonary valve stenosis. In addition, 2 children had an atrial septal defect and 1 an atrial septal defect associated with mild supravalvar pulmonary stenosis and anomalous drainage of the right upper pulmonary veins. In the majority of patients the electrocardiogram was different from the pattern usually seen in pulmonary valve stenosis: the QRS axis in the frontal plane was superiorly oriented in 7 out of 9 cases and in 2 patients evidence of right ventricular hypertrophy was lacking in the right praecordial leads; in 5 patients an rS complex was seen in the left praecordial leads. Gross thickening of pulmonary valve cusps was found at operation in 4 of the 8 patients who were operated on. Although phenotypically related, Turner's and Noonan's syndromes are associated with different and distinct cardiovascular anomalies.     

Cardiovascular malformations in Turner's and Noonan's syndrome

The cardiovascular findings in 9 patients with Turner's syndrome and 9 patients with Noonan's syndrome are described. Of the 9 patients with Turner's syndrome, 4 had coarctation of the aorta, 4 aorta stenosis, and the remaining patient both these lesions. All patients with Noonan's syndrome had pulmonary valve stenosis. In addition, 2 children had an atrial septal defect and 1 an atrial septal defect associated with mild supravalvar pulmonary stenosis and anomalous drainage of the right upper pulmonary veins. In the majority of patients the electrocardiogram was different from the pattern usually seen in pulmonary valve stenosis: the QRS axis in the frontal plane was superiorly oriented in 7 out of 9 cases and in 2 patients evidence of right ventricular hypertrophy was lacking in the right praecordial leads; in 5 patients an rS complex was seen in the left praecordial leads. Gross thickening of pulmonary valve cusps was found at operation in 4 of the 8 patients who were operated on. Although phenotypically related, Turner's and Noonan's syndromes are associated with different and distinct cardiovascular anomalies.     

Remodelling the aortic root by resection of the ascending aorta and non-coronary sinus in annular dilatation of the aorta and acute dissection of the descending aorta. 29 observations

The first conservative surgical procedures of the native aortic valve in annular dilatation were performed by Yacoub and David [1, 2]. These so-called remodelling and inclusion procedures provided hope for a normal life without long-term anticoagulant therapy for patients with Marfan's syndrome, with protection from the complication of an acute dissection of the ascending aorta. The authors reported their experience in the Archives des Maladies du Coeur et des Vaisseaux in 1999, with excellent results [3]. However, a certain number of cases are encountered in which the Yacoub and David procedures cannot be performed because of the presence of a pseudo-bicuspid valve, isolated asymmetrical dilatation of the non-coronary sinus or acute dissection of the aorta without dilatation of the aortic root. In these forms, the authors have developed a technique of remodelling the aortic root with conservation of the native valve by resecting the ascending aorta and non-coronary sinus, rather than carrying out a Bentall procedure. Twenty-nine cases of this type have been treated in this way for three different indications: aneurysm of the ascending aorta with bicuspid aortic valve, aneurysm of the ascending aorta with aortic insufficiency and extension to the posterior sinus, and type A acute dissection of the aorta.     

Sinus of valsalva aneurysm with congenital aortic stenosis and aortic coarctation

A 52-year-old female was diagnosed with the extremely rare combination of sinus of Valsalva aneurysm, congenital unicuspid aortic valve stenosis, and coarctation of the aorta. She was successfully treated in a two-stage operation. The first operation consisted of a bypass graft to correct the coarctation. The second, performed 31 days later, included aortic valve replacement, patch closure of the aneurysm, and translocation of the right coronary artery.     

Clinical and hemodynamic follow-up of a patient after operation for dissection of an ascending aortic aneurysm secondary to coarctation of the aorta

We present clinical follow-up of a 20-year-old male with an aortic aneurysm secondary to aortic coarctation. The diagnosis of aortic aneurysm secondary to aortic coarctation was made in 1997. The patient did not agree to undergo any invasive or therapeutic procedures at that time. He presented to an emergency unit with severe chest pain after chest trauma obtained during judo exercises in 1998. Two-dimensional echocardiography showed bicuspid aortic valves, an ascending aortic aneurysm 6 cm in diameter with an intimal flap and false lumen, aortic coarctation distal to the left subclavian artery, and aortic insufficiency secondary to annular dilatation. Type II aortic dissection was confirmed by transesophageal echocardiography, which showed the dissection was confined to the ascending aorta. The dissection extended to the beginning of the arcus aorta. Following stabilization of the patient's clinical condition, balloon coarctation angioplasty was performed to reduce afterload and hypertension and to facilitate femoral artery cannulation for cardiopulmonary bypass. Surgical procedures included resection of the aortic valve and prosthetic valve implantation, resection of the ascending aorta, and interposition of a 22 mm Hamashied tubular vascular graft. At a follow-up visit 6 years later, the patient reported being easily fatigued and having palpitations. He had been suffering from hemolytic anemia and mild renal function impairment. Cardiac catheterisation and angiography showed a 40 mmHg gradient due to kinking of the aortic graft and no gradient at the coarctation site. We postulated the kinking of the aortic vascular graft may be related to an inappropriate vascular graft length. We also thought that the severe hemolysis was attributable to the disturbance of blood flow by a jet of blood at the site of the kinking aortic vascular graft. A second operation was performed because the renal function of the patient had decreased progressively and hemolysis symptoms increased. After the second operation, hemolysis on peripheral blood smears had disappeared and renal function had shown progressive improvements.     

Color flow and conventional echocardiography of the Marfan syndrome

Imaging and color flow Doppler echocardiography are an integral part of any evaluation of a patient with the Marfan syndrome. The major cardiovascular manifestations of this condition are aortic dilation, which may involve the proximal and distal aorta, aortic regurgitation, aortic dissection, mitral valve prolapse, and mitral regurgitation. Patients who have the Marfan syndrome should have serial echocardiograms to measure aortic root diameter carefully at the sinuses of Valsalva and subsequent levels (sinotubular junction, arch, descending and abdominal aorta). Additionally, color Doppler echocardiography assists in the diagnosis of aortic dissection and facilitates evaluation of the severity of aortic and mitral regurgitation that commonly complicate the Marfan syndrome. The risk of aortic dissection, which is the most serious manifestation of the Marfan syndrome, increases as the aorta enlarges. Therefore, elective composite graft surgery is recommended when the aortic root size reaches 60 mm, regardless of symptom status, or 55 mm in the presence of severe aortic regurgitation. Surgical replacement of the aortic root with a composite graft does not end the disease process. Color flow Doppler is useful in the diagnosis of dehiscence of the conduit sewing ring, coronary artery aneurysm, distal aortic dissections, and prosthetic valve dysfunction.     

Severe Right Ventricular Outflow Obstruction by Right Sinus of Valsalva Aneurysm

Aneurysms of the sinus of Valsalva are rarely diagnosed cardiac anomalies, occurring in 0.14%–0.96% of patients who have undergone open heart surgical procedures. The most common congenital anomalies accompanying sinus of Valsalva aneurysm (SVA) are ventricular septal defect, bicuspid aortic valve, atrial septal defect, and coarctation of aorta. We report a patient with an unruptured right SVA presenting with severe right ventricular outflow tract (RVOT) obstruction, and coexisting patent foramen ovale (PFO) with a right to left shunt. It could be assumed that the increase in right atrial pressure due to RVOT obstruction had led to a right to left shunt across the patent foramen ovale. (Echocardiography 2010;27:341‐343)     

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.     

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.