Cleft Of Anterior Mitral Leaflet Research Articles

498 PERSISTENT FIFTH AORTIC ARCH IN A PATIENT WITH CHARGE SYNDROME: A CASE REPORT AND SYSTEMATIC REVIEW OF LITERATURE

Abstract Background CHARGE syndrome (CS) is a rare genetic disease characterized by a constellation of clinical findings including Coloboma, Heart defects, choanal Atresia, Retardation of growth and/or development, Genitourinary malformation and Ear abnormalities. We present a case of persistent fifth aortic arch (PFAA), an extremely rare congenital anomaly of aortic arch (AA), in a child with genetically confirmed CS and perform a systematic review of published studied, in an effort to examinate the distribution of congenital heart diseases (CHDs) and their impact in CHARGE patients. Case presentations and results A 12 years-old child was referred to our echocardiography laboratory for atypical chest pain. He had bilateral ocular coloboma, left hypoacusis, scoliosis, mild motor impairments, nocturnal enuresis, micropenis and facial dysmorphisms. Molecular diagnostic testing identified a de novo mutation (variant c.5290_5300+10del) in the CHD7 gene and CS was diagnosed. Echocardiography showed a single posterolateral papillary muscle and a cleft of anterior mitral leaflet. Interestingly, AA had a double-lumen appearance without Doppler signs of coarctation. A PFFA was hypothesized and then confirmed at angioCT. A systematic review of the literature was performed according to PRISMA guidelines. All published articles reporting the association CS and CHDs were chosen. A total of 975 records were identified. After the screening of title and abstract, assessed for eligibility were 219 papers. Finally, inclusion and full-text analysis was made in 60 studies, of which 37 case reports and 23 case series. We found that ventricular septal defects emerged as the most prevalent heart defect (32%), followed by atrial septal defects reported in 23% of cases. Complex CHDs were also described. Interestingly, AA abnormalities were reported in a high percentage (27%) of patients, right AA in 20% in association or not with aberrant subclavian artery and vascular ring, interrupted AA in 5% of cases, as well as aortic coarctation in 10%. Of note, almost half of the cases (49%) required cardiac surgery, mostly performed within 1 year from birth and, although outcome was available in a minority of patients, the death was reported in almost 30%. Conclusions Our case is the first that reports PFFA in CS and may be mistaken for AA dissection. In comparison with other syndromic diseases, a high prevalence of AA abnormalities was found in patients with mutations in the CHD7 gene.

Surgical repair of isolated anterior mitral leaflet cleft via right minithoracotomy

Isolated anterior mitral leaflet cleft (AMLC) is rare. Several surgical procedures have been described; however, there are few reports which described mitral repair using minimally invasive cardiac surgery for AMLC. We describe successful repair for isolated AMLC via right minithoracotomy. A 29-year-old woman with moderate mitral regurgitation (MR) diagnosed by echocardiogram several years previously presented with dyspnea on exertion. Transthoracic echocardiography revealed severe MR due to an AMLC in the central portion of A2. An autologous pericardial patch augmentation combined with artificial chorda reconstruction under right minithoracotomy approach was performed. It enabled to gain adequate leaflet coaptation area, and MR was effectively controlled by these procedures.<Learning objective: The aim of this case report is to describe a successful operation for congenital mitral valve insufficiency under minimally invasive cardiac surgery. We managed some surgical techniques because of different anatomy unlike other adult valvular disease. There are few reports of surgical repair for isolated anterior mitral leaflet cleft.>

Direct type gerbode defect with cleft in anterior mitral leaflet: A rarest of rare combination

A 15-year-old boy was evaluated for the new onset of dyspnea. He had no significant medical or surgical history. On echocardiography, he was found to have a direct communication between the left ventricle and the right atrium through the atrioventricular (AV) septum (a rare type of Gerbode defect) with an associated cleft in the anterior mitral leaflet. The combination of direct type Gerbode defect with the cleft of the anterior mitral leaflet is extremely rare.

A rare association – Noonans syndrome with coarctation of aorta and cleft anterior mitral leaflet

A rare association – Noonans syndrome with coarctation of aorta and cleft anterior mitral leaflet

Tri-leaflet mitral valve variant of hypertrophic obstructive cardiomyopathy: Comprehensive assessment with 3-D transesophageal echocardiography

We report 2 cases of tri-leaflet mitral valve incidentally identified with perioperative transesophageal echocardiography (TEE) during surgical septal myectomy. 3-D TEE in both cases was crucial in confirming the diagnosis. A tri-leaflet mitral valve is an extremely rare finding. It has been associated with other congenital anomalies of the heart and is usually related to an anterior mitral leaflet cleft [1]. To our knowledge, this is the third case report in the literature [2,3] imaged with 3-D TEE illustrating three leaflets, with a distinct division arising at the region of the posterior scallop (P2) in the setting of HOCM. The first case is a 63 year old male patient with HOCM presented with gradual worsening dyspnea on exertion over 10 years. There was history of exercise-related syncope. The transthoracic echocardiogram (TTE) revealed significant LVOT obstruction with gradient of 106 mm Hg at rest and 127 mm Hg on Valsalva manoeuvre. There was moderate mitral regurgitation (grade 2/4 MR) at rest. The pre-pump TEE showed a tricuspid mitral valve with distinct anterior, medial and lateral leaflets. There was also a small partial small cleft at the tip of A2 scallop region. This was appreciated on 3-D imaging as well as from a deep trans-gastric view (see Fig. 1: Videos 1 and 2). The LVOT gradient was 7 mm Hg post-myectomy. There was a reduction in mitral regurgitation post-resection with residual MR arising from the A2 cleft.

A "non-rheumatic" giant left atrium.

Sir, Giant left atrium (GLA) is a rare condition with a reported incidence of 0.3%. Definition of GLA is varied. Piccoli et al. defined the giant left atrium as a cardio-thoracic ratio on chest X-ray (CXR) of >0.7 combined with a left atrial anterior-posterior diameter of >8 cm on transthoracic echocardiography.[1] According to the definition by Isomura and coworkers, left atria larger than 6 cm in diameter are giant left atria.[2] Giant left atrium is commonly associated with longstanding rheumatic mitral valve regurgitation or mixed mitral disease with predominant regurgitation. The largest ever GLA reported to our knowledge measured 19.3 × 14.7 cm and was due to untreated rheumatic heart disease.[3] However, not many reports of “non-rheumatic” causes of GLA are available. The largest ever “non-rheumatic” GLA reported, measured 12 × 13 cm in a case of mitral valve prolapse.[4] A 22-year-old male was admitted with signs of acute decompensated heart failure. The physical examination revealed anterior precordial bulging with scoliosis, his blood pressure was 100/60 mmHg, his heart rate was 110/min with atrial fibrillation, neck veins were distended, and crepitations were present at the basal regions of his lungs. [Figure 1] A grade 3/6 pansystolic murmur and a diastolic flow murmur were present at the anterior axillary line, and there was peripheral edema. Chest radiography revealed cardiomegaly (cardiothoracic ratio, 0.74) leading to splaying of the carina, an elevated left main bronchus and severe thoracic scoliosis [Figure 2]. Echocardiogram showed massive left atrial enlargement, cleft anterior mitral leaflet, double mitral regurgitation jets, a small ostium primum atrial septal defect, and an (7 mm) inlet ventricular septal defect [Figures 3 and 4] — both with left to right shunts. A diagnosis of “Giant Left Atrium” (GLA) with partial atrioventricular septal defect was confirmed by cardiac computed tomography (CT) scan [Figures 5 and 6]. Maximum diameter of left atrium (LA) recorded by CT was 14.4 × 12.4 cm. [Figure 7] and LA volume was 840 ml. The patient was judged to be in New York Heart Association (NYHA) functional class IV. After initial attempt to stabilize him with infusion of furosemide (6 mg/hour) and isosorbide dinitrate (5 μg/min), he was referred to cardiac surgery department for LA size reduction and corrective surgery for the atrio-ventricular septal defect, as clinical and echo parameters predicted only a moderate pulmonary hypertension. Intra-operative findings confirmed the structural defects.[5] The patient's post-operative recovery was briefly punctuated by surgical wound infection; otherwise, patient has improved, with NYHA status at present class II/IV.Figure 1: Photo of the patient showing precordial bulging and scoliosisFigure 2: Chest radiography shows cardiomegaly, splaying of the carina, an elevated left main bronchus and scoliosisFigure 3: Echocardiogram showing massive left atrial enlargementFigure 4: Echocardiogram showing cleft anterior mitral leaflet with double mitral regurgitation jets; a small osteum primum atrial septal defect and an inlet VSDFigure 5: Cardiac computed tomography (CT) Scan showing dilated LAFigure 6: Cardiac CT Scan with 3D reconstruction showing dilated LAFigure 7: Maximum diameter of LA recorded by CT scan is 14.4 × 12.4 cmThis case probably represents the largest ever “non-rheumatic” GLA reported, demonstrating the extent to which a LA can expand even in a congenital heart disease condition. Although not many reports of “non-rheumatic” GLA are available but its identification is essential because of the complications associated. GLA can be associated with atrial fibrillation, thromboembolic complications, hemodynamic, and respiratory complications. GLA may lead to skeletal changes in the thorax related to direction of enlargement of LA; as in non-structural (postural) scoliosis seen in our case.[6] Surgical options for GLA are divided for either performing mitral valve surgery with left atrial volume reduction or performing mitral valve surgery alone.[7] A giant LA is an indication for the initiation of anti-coagulant therapy.

Mitral valve Replacement in a 4 yrs old Child: First Time in Bangladesh

Congenital mitral valve incompetence is a rare and complex congenital heart disease in children. We report, a case of a 4-year-old child admitted to hospital with fever, dyspnea on exertion or feeding and repeated respiratory infection for last 3 years. The transthoracic echocardiogram revealed grossly dilated left atrium and left ventricle and severe mitral regurgitation due to cleft in anterior mitral leaflet. Per-operatively mitral valve annulus was found very much dilated; leaflet thinned out and rudimentary posterior mitral leaflet. Morphology of mitral valve was totally distorted, leaflets were diminutive and beyond repairable. Mitral valve replacement was done with 25 mm Edward Life Science porcine tissue heart valve with total preservation of subvalvular structure and the patient showed dramatic symptomatic improvement and later follow up revealed good LV function with alleviation of symptoms. This is a rare and unusual case of congenital mitral valve disease with better prognosis after surgical replacement with tissue valve. DOI: http://dx.doi.org/10.3329/cardio.v6i2.18362 Cardiovasc. j. 2014; 6(2): 167-169

The Application of On-Pump Beating-Heart Surgery for Partial Atrioventricular Septal Defect: A Report of 87 Cases

Partial atrioventricular septal defect (P-AVSD) is a common congenital heart disease. Because of the presence of left and right atrioventricular valve deformities and the shift in the atrioventricular node and cardiac conduction bundle, the surgical repair of P-AVSD is difficult. This study was performed to compare the effects on the coronary sinus septum in the left versus the right atrium during surgical treatment for P-AVSD and report our experiences regarding the application of on-pump beating heart surgery under mild hypothermia for patients with P-AVSD. The effects of on-pump beating heart surgery were analyzed retrospectively in 87 P-AVSD patients. Of the 87 total patients, 84 with anterior mitral leaflet cleft underwent valvuloplasty and 3 underwent mitral valve replacement. Seventy-seven patients underwent tricuspid valve annuloplasty, 2 underwent tricuspid valve replacement, and 1 underwent left superior vena cava ligation, and 3 patients with atrial fibrillation were treated with radiofrequency ablation. Patients with an ostium primum atrial septal defect underwent autologous pericardial modified Kirklin repair. Of these, 46 patients had their coronary sinus septum separated into the left atrium and 41 had their coronary sinus retained in the right atrium. Fingertip oxygen saturation was compared between patients in whom the coronary sinus was separated to the left atrium and those in whom the coronary sinus was retained in the right atrium. There was 1 postoperative early death (1.15%) due to respiratory failure, and 1 patient had a III degree atrioventricular block (1.15%) and underwent implantation of a permanent pacemaker. The fingertip oxygen saturation levels of the left atrium group were 96.81 ± 3.17 preoperatively, 95.37 ± 4.62 at 7 days postoperatively, and 94.53 ± 4.95 at 3 months postoperatively. Those of the right atrium group were 98.53 ± 2.84 preoperatively, 97.19 ± 3.57 at 7 days postoperatively, and 96.89 ± 4.19 at 3 months postoperatively. During the follow-up period, which ranged from 3 months to 7 years, the cardiac function was adequately restored. On-pump beating heart surgery under mild hypothermia is a safe and feasible method. The retention of the coronary sinus in the right atrium might maintain oxygen saturation.

An isolated anterior mitral leaflet cleft: a case report

IntroductionThe anterior mitral leaflet cleft is an unusual congenital lesion most often encountered in association with other congenital heart defects. The isolated anterior leaflet cleft is quite a rare anomaly and is usually cause of mitral valve regurgitation. The importance of the lesion is that it is often correctable. When feasible, cleft suture and, eventually, annuloplasty are preferable to valve replacement. Echocardiography is the first choice technique in the evaluation of mitral valve disease, providing useful information about valve anatomy and hemodynamic parameters.Case presentationWe present a case of an isolated anterior mitral leaflet cleft producing moderate-severe mitral regurgitation correctly identified by echocardiography and successfully surgically corrected.ConclusionIsolated cleft is a rare aberration, that has to be known in order to be diagnosed. Transthoracic and transesophageal echocardiography is the most useful non invasive technique for cleft diagnosis and to indicate the right surgical correction.

Subaortic stenosis associated with systolic anterior motion

Left ventricular outflow tract obstruction in children is classified according to the site of the obstruction into a supra-aortic type, valvular type, and subaortic type (subaortic stenosis). Subaortic stenosis, in turn, is classified into two major subtypes, i.e., a discrete type, which accounts for most cases and a tunnel type, and one minor subtype, the accessory mitral tissue type, which is rare. Systolic anterior motion (SAM) is a phenomenon that is commonly observed in hypertrophic cardiomyopathy. We report a rare case of subaortic stenosis associated with SAM, which was caused by cleft anterior mitral leaflet and an accessory papillary muscle. Surgical treatment was successful, and there were no complications.

Isolated cleft of the anterior mitral valve leaflet

Isolated anterior mitral leaflet cleft (not associated with atrio-ventricular septal defect) is a rare cause of congenital mitral regurgitation, and the treatment consists of direct suturing of the cleft. We present a clinical case with this entity.

Mitral clefts and interatrial septum defects: 15-year results.

Between 1985 and 2002, 60 patients (58% female) with a mean age of 20.3 +/- 12.1 years (range, 2-55 years) were treated for anterior mitral leaflet cleft. There was a primum atrial septal defect in 52 patients (87%) and a secundum type in 8 (13%). Concomitant cardiac defects were patent foramen ovale in 6 patients, cleft tricuspid valve in 3, ventricular septal defect in 2, cor triatriatum in 1, and persistent left superior vena cava in 1. Mean grade (1-4) of mitral insufficiency was 2.28 +/- 0.74. Atrial septal defects were closed with a pericardial patch in 45 patients, with a prosthetic patch in 11, and primarily in 4. Mitral leaflet clefts were repaired using interrupted sutures. There was no early or late mortality. Two patients (3%) needed a permanent pacemaker. Postoperatively, severe (> or =grade 3) mitral insufficiency developed in 2 patients; valve replacement was performed in one, cleft recurrence and leakage from the patch were treated in the other. Freedom from reoperation was 92.2% +/- 5.6% at 15 years. Surgical intervention can be performed for congenital anterior mitral leaflet cleft and interatrial septal defect with good results in both pediatric and adult age groups.

A rare form of atrioventricular septal defect with severe subaortic stenosis

An unusual form of atrioventricular septal defect associated with severe subaortic obstruction is reported in a neonate who presented with intractable cardiac failure. The baby had a large defect in the atrioventricular septum allowing communication from the left ventricle to the right atrium, without interatrial or interventricular communication, and a cleft anterior mitral leaflet. The baby expired despite palliative surgery performed to bypass the subaortic stenosis.

Surgical repair of the congenitally malformed mitral valve in infants and children.

Mitral valve remodeling techniques were applied to 26 infants and children (mean age, 6.0 years, range, 0.4 to 15.9 years) with various forms of congenital mitral valve disease over a 7-year period. Patients with atrioventricular canal, L-transposition and single ventricle were excluded. Intraoperative transesophageal echocardiography (TEE) was utilized to assess the repair and guide the need for immediate intervention. Twenty-one patients had mitral regurgitation: 10 with cleft anterior mitral leaflet, 7 with annular dilatation, 1 with normal leaflets with an obstructing cord, 2 with prolapsed leaflets and elongated cords, and 1 with restricted leaflet motion, normal papillary muscles, and shortened cords. Of the 5 mitral stenosis patients, 3 had supravalvular mitral ring, 1 had midvalvular mitral ring, and 1 had a parachute valve. Three of the mitral stenosis patients had additional stenotic lesions. Concurrent repair of associated lesions was performed in 21 patients (78%). Operative mortality was 3.8% (n = 1). There were no late deaths. Immediate rerepair in 4 patients resulted in improved function. All mitral stenosis patients improved. A total of 20 mitral regurgitation patients (95%) improved; 1 required mitral valve replacement. Mean follow-up is 31 months (range, 2 to 81 months). All patients are in New York Heart Association functional class I or II. Mitral valve repair can be successfully performed in infants and children with excellent short- and midterm results. Assessment using transesophageal echocardiography can guide the necessity for immediate rerepair to achieve improved function.

Subxiphoid cross-sectional echocardiographic imaging of the "goose-neck" deformity in endocardial cushion defect.

The cross-sectional echocardiographic demonstration of the "goose-neck" deformity is described in four patients with endocardial cushion defect. The diagnosis was confirmed in each patient by left ventricular angiocardiogram. The subxiphoid approach of cross-sectional echocardiography in diastole allowed visualization of an elongated, narrowed, and somewhat horizontally inclined configuration of the left ventricular outflow tract, which appeared almost identical to that obtained by angiocardiography. In systole, the right border of the left ventricle was composed of the cleft anterior mitral leaflet, the left-sided line of which was convex toward the left ventricular cavity. The mitral valvular echoes were thickened, jagged and irregular, which seemed to correspond to the scalloped appearance of the right border of the left ventricular silhouette in a systolic phase of the left ventricular angiocardiogram. There were no obvious differences between the goose-neck configuration of complete-type endocardial cushion defect and that of ostium primum atrial septal defect.

Two dimensional echocardiographic evaluation of patients with mitral insufficiency

One hundred forty patients with clinical mitral insufficiency were studied with two dimensional echocardiography. Cardiac catheterization was performed in 51 patients; all had mitral insufficiency. Thirty-three patients were surgically treated. An etiologic diagnosis was made in 133 patients. Mitral valve prolapse (41 patients) was the most common cause of mitral insufficiency; the amount of valve insufficiency did not correlate with the leaflet involved or the severity of the prolapse. Patients with rheumatic disease either had combined mitral stenosis and insufficiency (27 patients) or pure mitral insufficiency (10 patients). Echocardiographic measurement of the mitral valve area separated patients with combined lesions from those with pure insufficiency. Fourteen patients had ruptured chordae tendineae; surgical findings were confirmatory in each patient who had valve replacement. Nineteen patients had left ventricular dysfunction; angiographie findings were confirmatory in each patient who underwent cardiac catheterization. Two dimensional echocardiographic findings reliably differentiated mitral insufficiency secondary to valve disease from that secondary to ventricular or papillary muscle dysfunction. Other causes of mitral insufficiency included mitral anular calcification (11 patients), idiopathic hypertrophic subaortic stenosis (5 patients), cleft anterior mitral leaflet (5 patients) and atrial myxoma (1 patient).

TWO‐DIMENSIONAL ECHOCARDIOGRAPHY IN ATRIOVENTRICULAR CANAL MALFORMATION: A DIAGNOSTIC APPROACH

Two-dimensional echocardiographic studies were performed in 20 children with various forms of atrio-ventricular canal malformation. Both sagittal and transverse cross-sections were evaluated. The most typical finding in all patients was the visualization of the cleft anterior mitral leaflet (AML) represented by a diastolic break of AML echoes in the sagittal cross-section. - In cases where the AML is attached to the interventricular septum, varying degrees of left ventricular outflow tract narrowing and elongation were observed. In the transverse cross-section mitral-tricuspid alignment could be observed at the level of the aortic root. The ventricular septal defect in complete AVC was visualized as an echo-free space between the common anterior leaflet and the interventricular septum.

Echocardiography in atrioventricular canal defect: A clinical spectrum

Echocardiographic examinations were performed in 30 children with atrioventricular (A-V) canal defect to determine the diagnostic value of recording A-V valve motion. Although a wide spectrum of abnormal movement was observed, four main diagnostic types emerged. Type 1, prolonged mitral-septal approximation during diastole, resulted from anterior displacement of the cleft anterior mitral leaflet. Type 2, the most diagnostic motion, was recorded when the common anterior A-V leaflet traversed the interventricular septum. Type 3 motion reflected posterior displacement of the septal tricuspid leaflet, which appeared to arise from the interventricular septum. Normal posterior diastolic motion of the septal leaflet was never recorded. Type 4, double contour of the mitral valve during systole and marked duplication of the systolic image, corresponded to irregularities in the mitral valve. When these patterns are recorded in a patient with congenital heart disease the diagnosis of A-V canal defect can be made with confidence.

Partial persistent atrioventricular canal simulating pure mitral regurgitation

Patients with persistent partial atrioventricular canal and only small interatrial communications may present the clinical features of pure mitral regurgitation. Two such individuals, who on clinical examination were mistakenly considered to have rheumatic mitral regurgitation, are described. The roentgenographic findings supported this diagnosis, and the electrocardiograms did not exhibit the vector loop characteristic of an endocardial cushion defect. Cardiac catheterization made possible the correct diagnosis, however, and at operation each patient was found to have a cleft anterior mitral leaflet and an unusually small interatrial defect of the ostium primum type. Problems which relate to the diagnosis and surgical management of this unusual variant of persistent A-V canal are discussed.

Congenital cardiac anomaly: Persistent common atrioventricular ostium

An example is presented of persistent common atrioventricular ostium in a 58-year-old woman. The defect is considered to be a failure of fusion of the endocardial cushions. The special configuration of the defect, and the arrangement of the anomalous valve is considered to be a failure of the septum aorto pulmonale to form completely. The well-developed interatrial septum is offered as evidence that atrial septum development is independent of the endocardial cushions at the canal level. Mention is made of a cleft anterior mitral leaflet in examples of persistent ostium primum. Distinct redundant membranous tissue on the free edge of the atrial septum suggests that a normal anterior mitral leaflet is completed by tissue from the atria. The functional defect was probably reduced by the attachment of the anomalous valve segments to the borders of the septal defect.