Un cas rare de complexe de Shone incomplet chez un homme de 35 ans avec un morphotype marfanoïde et revue de la littérature

Shone syndrome is a rare and complex congenital heart disease. It is characterized in its complete form, by a constellation of the four potentially obstructive lesions of the left heart side. Incomplete Shone's complex includes 2 or 3 of the characteristic lesions which, include a supravalvular mitral membrane, valvular mitral stenosis (MS) by a parachute mitral valve (PMV), subaortic stenosis and aortic coarctation (Coa). We describe here, the case of a 35-year-old man, hospitalized for chronic dyspnea and in whom, the diagnosis of incomplete Shone's complex is retained by echocardiographic analysis. Observed lesions include a parachute mitral valve responsible for mild regurgitation and moderate mitral stenosis, bicuspid aortic valve, and pseudo interruption of the aorta with dilatation of the ascending aorta and a patent ductus arteriosus. This case is the 2nd on 3942 patients in Drighil congenital heart disease registry.     

Parachute Mitral Valve in Adults—A Systematic Overview

Parachute mitral valve (PMV) is a rare congenital anomaly of the mitral valve apparatus seen in infants and young children. In most instances PMV is associated with other congenital anomalies of the heart, in particular obstructive lesions of the mitral inflow (mitral valve ring) and left ventricular outflow tract (subaortic stenosis), and coarctation of aorta and is referred to as Shone's complex or Shone's anomaly. PMV may also occur as an isolated lesion or in association with other congenital cardiac anomalies. Not much is known about PMV in adults as an isolated anomaly or in association with other congenital cardiac anomalies. We reviewed the literature to identify cases of PMV (isolated or associated with other lesions) in adults, to address prevalence, clinical presentation, diagnosis, treatment, and outcome of such patients. (Echocardiography 2010;27:581‐586)     

Three‐Dimensional Echocardiography Enhances Diagnostic Accuracy of Supramitral Ring

Real time three‐dimensional echocardiography (RT3DE) allows for accurate morphological characterization of congenital heart disease and complements two‐dimensional (2D) echocardiography. Accurate evaluation of the mitral valve and supramitral ring prior to surgery aids the surgeon in successful resection of the ring and repair of associated mitral valve abnormalities. We report a case of congenital mitral valve stenosis from a supramitral ring in a young child using real time three‐dimensional transesophageal echocardiography.     

Echocardiographic diagnosis of Shone’s syndrome

Shone’s syndrome is a rare congenital heart disease that includes 4 cardiovascular anomalies: supravalvular mitral ring, parachute mitral valve, subaortic stenosis, and coarctation of the aorta. Early diagnosis and treatment result in better outcomes. Echocardiography plays an important role in the diagnosis and is the optimal examination for detecting this disease. Pressure gradients are often unreliable and inaccurate; thus, careful anatomical observation of the left ventricular inflow and outflow tracts, particularly the mitral valve, is vital for accurate diagnosis and planning appropriate management. Herein, we describe 9 cases of Shone’s syndrome, diagnosed with echocardiography and treated surgically.     

Anatomic types of congenital mitral stenosis: Report of 49 autopsy cases with consideration of diagnosis and surgical implications

In a series of 49 autopsy cases of congenital mitral stenosis, four anatomic types were found: (1) typical congenital mitral stenosis with short chordae tendineae, obliteration of interchordal spaces and reduction of interpapillary distance (24 cases, 49 percent); (2) hypoplastic congenital mitral stenosis almost always associated with a hypoplastic left heart syndrome (20 cases, 41 percent); (3) supramitral ring (6 cases, 12 percent); and (4) parachute mitral valve (4 cases, 8 percent). The median ages at death were as follows: parachute mitral valve, 9 $\text{11}\text{12}\text{years}$; supramitral ring, 5 $\text{6}\text{12}\text{years}$; typical congenital mitral stenosis, 6 months, and hypoplastic congenital mitral stenosis, 5 days. Thus, parachute mitral valve had the best natural history and the hypoplastic type of mitral stenosis the worst; that of the other two types was intermediate. Associated malformations were present in 96 percent of cases, endocardial sclerosis or florid endocardial fibroelastosis occurring in 47 percent, hypoplasia of the aortic isthmus in 37 percent, aortic valve stenosis in 29 percent, aortic atresia in 29 percent and coarctation of the aorta in 27 percent of the cases. On the basis of an understanding of the pathologic anatomy, real time twodimensional echocardiography probably will make it possible to make the differential diagnosis among the four major anatomic types of congenital mitral stenosis. Mitral valvuloplasty of several new types appears to merit trial as the initial surgical procedure. At present, mitral valve replacement should be deferred as long as possible.     

The Incremental Value of RT Three‐Dimensional TEE in the Evaluation of Prosthetic Mitral Valve Ring Thrombosis Complicated with Thromboembolism

Purpose: Although nonobstructive prosthetic valve thrombosis (PVT) does not develop hemodynamic compromise, it carries potential risk for thromboembolism. Real time three‐dimensional transesophageal echocardiography (RT‐3DTEE), has emerged as a complementary tool in depicting “en face” views of prosthesis compared with two‐dimensional transesophageal echocardiography (2DTEE). We aimed to evaluate the utility of RT‐3DTEE in assessment of mitral ring‐located thrombosis. Method: We present 3 cases of mechanical mitral valve thrombosis complicated by thromboembolism, who were all examined and followed‐up by 2D transthoracic echocardiography (TTE), 2DTEE, and RT‐3DTEE. Result: The consequencies of thromboembolism in the patients were coronary embolism, transient ischemic attack, and ischemic stroke, respectively. They were all inadequately anticoagulated at the time of admission. 2DTTE and TEE examination was unsatisfactory; RT‐3DTEE depicted nonobstructive mitral ring thrombosis in each of the patients. The patients were followed up under effective anticoagulation and antiplatelet therapy. RT‐3DTEE was able to demonstrate the evolution of thrombus size in each of the patients. Conclusion: Nonobstructive ring‐located PVT which poses risk for thromboembolism, may be diagnosed with certainty and imaged with clarity utilizing RT‐3DTEE.     

Echocardiographic evaluation of congenital mitral valve anomalies in children

Congenital mitral valve anomalies were diagnosed in 65 children, whose ages ranged from newborn to 18 years, using 2-dimensional, color, pulsed-, and continuous-wave Doppler ultrasound. Data were collected over 7.5 years from 13,400 new studies. Data in these patients were compared with those obtained by cardiac catheterization, cardiac surgery, and autopsy. We detected 4 different lesions: (1) congenital mitral stenosis with 2 papillary muscles (n = 24); (2) parachute mitral valve, with a single papillary muscle (n = 24); (3) isolated cleft in the mitral valve (n = 10); and (4) double-orifice mitral valve (n = 7). A supravalvar mitral ring was detected in 21 patients with mitral stenosis; however, it never occurred as an isolated lesion and was invariably associated with some other left ventricular inflow or outflow obstruction. The supravalvar ring was associated with a parachute deformity of the mitral valve in 17 patients; in only 4 was this abnormality associated with mitral stenosis with 2 papillary muscles. In patients with congenital mitral stenosis, the peak and mean transmitral Doppler velocities were increased significantly compared with those in controls (peak velocity 1.53 ± 0.74 vs 0.86 ± 0.25 m/s, respectively, p < 0.01; mean velocity 1.13 ± 0.61 vs 0.58 ± 0.11 m/s, respectively, p < 0.01). The correlation between mean transmitral pressure gradient obtained by Doppler and cardiac catheterization was fair (r = 0.75). However, the correlation between the mitral valve areas calculated by the Doppler pressure half-time method and by the Gorlin formula was poor (r = 0.57). Eleven of the 24 patients with parachute mitral valve deformities had Doppler evidence of an increased transmitral gradient. In children, echocardiography proved superior to cineangiography as a diagnostic modality, and can be relied upon in making management decisions, but Doppler velocities, including pressure halftime, applicable in adults for calculation of mitral valve area are unreliable.     

Atypical Shone's Complex Diagnosed at 70 Years Old: Presenting with Double-orifice Mitral Valve,Bicuspid Aortic Valve,and Aortic Coarctation

Atypical Shone''s complex is a rare congenital anomaly involving a left-sided obstructive lesion of two or three cardiovascular levels. A 70-year-old man with dyspnea on exertion was diagnosed with severe aortic stenosis (AS) with a bicuspid valve, complicated by severe aortic coarctation (CoA) and a double-orifice mitral valve. He underwent surgery for AS and CoA in one session. It is important to search for complicated malformations, even in cases of bicuspid aortic valve found in old age.     

Quando parece estenose valvular mitral mas não é – implicações diagnósticas e terapêuticas

The authors report the case of a 53‐year‐old man, with a long‐standing history of mild mitral stenosis, admitted for worsening fatigue. Transthoracic echocardiography (limited by poor image quality) showed mitral annular calcification, leaflets that were difficult to visualize and an estimated mitral valve area of 1.8 cm² by the pressure half‐time method. However, elevated mean transmitral and right ventricle/right atrium gradients were identified (39 and 117 mmHg, respectively). This puzzling discrepancy in the echocardiographic findings prompted investigation by transesophageal echocardiography, which revealed an echogenic structure adjacent to the mitral annulus, causing severe obstruction (effective orifice area 0.7 cm²). The suspicion of supravalvular mitral ring was confirmed during surgery. Following ring resection and mitral valve replacement there was significant improvement in the patient's clinical condition and normalization of the left atrium/left ventricle gradient.Supravalvular mitral ring is an unusual cause of congenital mitral stenosis, characterized by an abnormal ridge of connective tissue on the atrial side of the mitral valve, which often obstructs mitral valve inflow. Few cases have been reported, most of them in children with concomitant congenital abnormalities. Diagnosis of a supravalvular mitral ring is challenging, since it is very difficult to visualize in most diagnostic tests. It was the combination of clinical and various echocardiographic findings that led us to suspect this very rare condition, enabling appropriate treatment, with excellent long‐term results.     

Trileaflet Mitral Valve with Three Papillary Muscles Associated with Hypertrophic Cardiomyopathy: A Novel Case

Congenital mitral valve (MV) malformations are uncommon, except for MV prolapse. Despite their infrequency, most of them are well‐known and defined entities, such as congenital MV stenosis with two papillary muscles, parachute MV, supravalvular mitral ring, hypoplastic MV, isolated cleft in the anterior and/or posterior leaflets, and double‐orifice MV. A trileaflet MV with three separate papillary muscles with concordant atrioventricular and ventricle–arterial connections is exceptionally rare. To the best of the authors' knowledge, it has been reported only once in association with subaortic valvular stenosis. We hereby describe a novel case associated with hypertrophic cardiomyopathy.     

A hammock in the left atrium

Shone's anomaly describes a complex involving multiple left sided cardiac obstructions, namely, parachute deformity of the mitral valve, supravalvular ring of the left atrium, subaortic stenosis and aortic coarctation. We are reporting a case of Shone's anomaly characterised by aortic recoarctation, mitral supravalvular membrane, bicuspid aortic valve, complicated complete atrioventricular block and bradycardia-induced nonsustained polymorphic ventricular tachycardia. We revealed mitral supravalvular membrane by 3D transoesophageal echocardiography.     

Echocardiographic Assessment of Mantle Radiation Mitral Stenosis

The long‐term sequelae of mantle radiotherapy include lung disease and cardiac disorders. Dyspnea on exertion is a common complaint and can be due to one or more pathologies. We describe a case of mantle radiotherapy‐induced mitral stenosis, characterized by aorto‐mitral continuity calcification and absent commissural fusion which precludes balloon valvotomy. The latency period is long, and this patient presented 42 years after radiotherapy. Importantly, as previously described with radiation‐induced valve disease, significant mitral stenosis developed 10 years after surgery for significant aortic stenosis. Two‐dimensional and three‐dimensional transthoracic and transesophageal echocardiography should be considered during assessment of symptomatic survivors of Hodgkin's disease where the index of suspicion for valvular stenosis increases over time. Given the natural history of mantle radiation valvular disease, a lower threshold for surgical intervention in radiation‐induced mitral stenosis may need to be considered if cardiac surgery is planned for other reasons in order to avoid repeated sternotomy in patients with prior irradiation.     

Percutaneous closure of an atrial septal defect in an infant with shone's syndrome

Rarely is closure of the atrial septal defect indicated in infants. Yet, an atrial septal defect in the presence of congenital mitral stenosis may cause significant congestive heart failure in infancy. We present the case of an infant with Shone's syndrome, left ventricular hypoplasia, and a large ostium secundum atrial septal defect who developed pulmonary overcirculation following repair of coarctation of the aorta. The infant underwent cardiac catheterization, hemodynamic assessment, and successful percutaneous closure of the atrial septal defect. The patient improved dramatically following the intervention. Follow‐up echocardiograms have demonstrated growth of mitral valve annulus diameter and left ventricular dimensions. Atrial septal defect closure in this small infant was associated with immediate improved clinical status, and improved growth of the left heart structures. © 2012 Wiley Periodicals, Inc.     

Supravalvular stenosing ring of the left atrium associated with corrected transposition of the great vessels

A case of supravalvular stenosing ring of the left atrium is described. The severity of the stenosis obscured the features of Ebstein's malformation of the left atrioventricular valve, which was the only other defect associated with corrected transposition. Analysis of the reported examples of supravalvular stenosing rings reveals that the condition rarely exists as an isolated anomaly but tends to occur in 2 groups of conditions, namely, a developmental complex of obstructive anomalies of the left side of the heart (supravalvular ring, subaortic stenosis, parachute mitral valve and coarctation of the aorta) or a second group associated with a left to right shunt produced by a ventricular septal defect or patent ductus arteriosus. The potential diagnostic value of echocardiography in cases in which there is evidence of pulmonary venous obstruction is discussed.     

Parachute Tricuspid Valve in a Patient with Atrial Septal Defect Detected by Two‐ and Three‐Dimensional Echocardiography

Atrioventricular valve parachute deformity was generally seen in the mitral position, which is called parachute mitral valve. Parachute deformity is also seen in the tricuspid position, but this has rarely been reported as sporadic cases. All of these cases were associated with other congenital defects, such as double outlet right ventricle, left to right shunt. We herein present two‐ and three‐dimensional echocardiographic features of a parachute tricuspid valve in a patient with atrial septal defect and prominent eustachian valve.     

Reliability and reproducibility of two dimensional echocardiograph measurement of the stenotic mitral valve orifice area.

A wide angle phased array sector scanner was used to find the optimal method, the reliability and the reproducibility of measuring the mitral valve area with two dimensional echocardiography in patients with rheumatic mitral stenosis. Initial experience with 18 patients revealed that tracing the early diastolic actual black-white interface of the perceived orifice was the most reliable method for drawing the mitral valve orifice area. Good interobserver correlation was obtained when two observers used either method to calculate the mitral valve area (r = 0.93). Similarly good intrastudy reliability was obtained when any one observer applied one measurement method to different diastolic cycles within the same study (r = 0.89). The phased array two dimensional echocardiogram properly differentiated patients with critical mitral stenosis from those with non-critical mitral stenosis, but the correlation between the echocardiographically and the hemodynamically derived mitral valve areas was less good than previously reported (r = 0.83). Imaging a test object with varied known orifice sizes and excised stenotic mitral valves of known orifice size with a phased array and mechanical sector scanner failed to reveal superiority of either instrument. Further testing with a phased array instrument revealed that the perceived orifice was critically dependent on receiver gains settings for any transmitted power level. Receiver gain settings too low led to image dropout, indicating a falsely large orifice. Receiver gain settings too high led to image saturation, indicating a falsely narrowed orifice. Six additional patients with predominant mitral stenosis later underwent imaging with strict attention paid to individual receiver gain settings. Combining the data from these 6 patients with those from the initial 18 patients gave a better correlation between the echocardiographic and hemodynamic calculated mitral valve areas (r = 0.92).Accurate noninvasive measurement of the mitral valve area with two dimensional echocardiography in patients with mitral stenosis appears to depend on use of the proper echocardiographic technique to localize the true commissural edge of the valve in early diastole, the correct instrument settings and the appropriate method for drawing the perceived orifice. The noninvasive measurement of the mitral valve orifice with two dimensional echocardiography in mitral stenosis provides clinically useful data that are reliable and reproducible if these factors are taken into account.     

Successful Transcatheter Closure of an Aorto‐Left Atrial Fistula

Aorto‐left atrial fistula is a rare entity in which the integrity of the aortic root bordering the left atrium is disrupted. The clinical presentation is highly variable, depending predominantly on the size of the fistula and the pressure difference between the aorta and the left atrium. Surgical repair was the standard treatment. Recently, however, there have been reports of successful transcatheter closure. We report a 32‐year‐old male with Shone's syndrome who had multiple prior surgical procedures including aortic and mitral valve replacements. He presented with an aorto‐left atrial fistula that was successfully closed percutaneously using an Amplatzer atrial septal defect device.     

Measurement of the mitral area with three-dimensional cardiac echography

Two dimensional planimetry of mitral stenosis is sometimes difficult due to the complex morphology of the mitral valve. Three dimensional cardiac echography images the projected area of the mitral valve allowing precise planimetry of the orifice. Thirty patients with mitral stenosis were included in this study in order to obtain planimetry of the mitral orifice with two dimensional and three dimensional "freehand" mode transthoracic echocardiography. In 10 patients, the measurements were taken before and after percutaneous commissurotomy. The mitral area measured with three dimensional echography was 1.36+/-0.45 cm2 and 1.39+/-0.43 cm2 in two dimensional mode. The correlation between the 2 methods was good (y=1.01x - 0.08, r=0.92, p<0.001) but three dimensional echocardiography significantly underestimated the two dimensional planimetry by 0.05+/-0.27 cm2 (4+/-20%, p<0.05). The intra- and inter-observer reproducibility of the three dimensional measurements were 0.95 and 0.91 respectively. Three dimensional free-hand mode cardiac echography allows precise measurement of the mitral orifice area in patients with mitral stenosis.     

Separation anxiety: Extreme dehiscence of a mitral annuloplasty ring

We report a patient admitted with acute pulmonary edema 3 months after mitral valve repair, with no history of inter‐current febrile illness. Transesophageal echocardiography (TEE) demonstrated severe mitral regurgitation (MR) and an abnormally positioned annuloplasty ring, suggestive of dehiscence. The extreme extent of ring dehiscence was visualized on 3‐dimensional TEE (3D), with near‐complete separation of the ring. Strept.Mitis and Cristatus were isolated from the ring following redo mitral valve surgery, confirming endocarditis as the mechanism for dehiscence. This report highlights the additive role and superior ability of 3D TEE in the identification and anatomic delineation of mitral ring dehiscence.     

Clinical uses of two dimensional echocardiography

The added advantages of two dimensional over M mode echocardiography in the diagnosis of cardiac disorders occurring in adults are reviewed. In patients with coronary artery disease, left ventricular aneurysm, wall motion abnormalities and ventricular dysfunction can be reliably evaluated with two dimensional echocardiography. Preliminary studies have demonstrated that two dimensional echocardiography is useful for assessing regional cardiac dilatation and prognosis after acute myocardial infarction, detecting left main coronary stenosis and predicting operability in patients with ventricular aneurysm. Determination of mitral valve area by two dimensional echocardiography in patients with mitral stenosis has shown good correlation with measurements of mitral valve area and size performed at the time of operation or calculated from cardiac catheterization data. The cause of mitral regurgitation can be more reliably elucidated by the differentiation of valvular and myocardial pathologic conditions. In addition, precise anatomic cardiac detail can be obtained in the localization of left and right ventricular and aortic outflow obstruction. Tricuspid valve disorders are particularly apparent because all three leaflets of the tricuspid valve can be visualized in real time studies and the detection of tricuspid regurgitation can be readily accomplished. Two dimensional echocardiography appears to be more reliable than M mode echocardiography in the detection of complications occurring as a result of bacterial endocarditis. Bioprosthetic valve function and localization and site of pericardial effusions as well as aortic aneurysms can be determined with two dimensional echocardiography. Two dimensional echocardiography can provide an accurate appreciation of the size, shape, mobility and origin of an intracardiac mass. With the use of contrast echocardiography, right to left shunting or the negative contrast effect can be demonstrated in patients with an atrial septal defect. Thus, the precision, accuracy and sensitivity of two dimensional echocardiography affords the clinician a valuable noninvasive instrument in the detection of cardiac disease.