Can prenatal diagnosis of parachute mitral valve be achieved? A case report of fetal parachute mitral valve.

Parachute mitral valve (PMV) is a common form of congenital mitral stenosis and is difficult to diagnose prenatally. This report describes a fetal case of PMV with coarctation of the aorta that was diagnosed at 25 weeks' gestation by echocardiography and confirmed at autopsy. We describe the ultrasonographic features in this case and present a useful sign for making a prenatal diagnosis of PMV.

Echocardiographic examination of mitral valve abnormalities in the paediatric population: current practices.

We reviewed the recent literature for echocardiographic assessment of mitral valve abnormalities in children. A literature search was performed within the National Library of Medicine using the keywords "mitral regurgitation and/or stenosis, children." The search was refined by adding the keywords "echocardiographic definition, classification, and evaluation." Thirty-one studies were finally included. Significant advances in echocardiographic imaging of mitral valve defects, mainly due to the implementation of three-dimensional technology, contribute to a better understanding of the underlying anatomy. However, heterogeneity between classification systems of mitral valve disease severity is a serious problem. For regurgitant lesions, there is only very limited evidence from small studies that support the adoption of quantitative/semi-quantitative indexes commonly employed in adults. Despite the lack of evidence base, qualitative evaluation of regurgitation severity is often employed. For stenotic lesions, no clear categorisation based on trans-valvular echocardiography-derived "gradients" has been consistently applied to define mild, moderate, or severe obstruction across different paediatric age ranges. Quantitative parameters such as valve area have also been poorly validated in children. Adult recommendations are frequently applied without validation for the paediatric age. In conclusion, significant advances in the anatomical evaluation of mitral valve diseases have been made, thanks to three-dimensional echocardiography; however, limitations remain in the quantitative/semi-quantitative estimation of disease severity, both with respect to valvular regurgitation and stenosis. Because adult echocardiographic recommendations should not be simply translated to the paediatric age, more specific paediatric guidelines and standards for the assessment of mitral valve diseases are needed.

A teenager with CHD and coronavirus disease 2019.

A 16-year-old girl with history of treated congenital mitral valve disease and signs of respiratory infection was admitted to our paediatric cardiology department. She was tested positive for severe acute respiratory syndrome coronavirus 2. Despite her severe pre-existing cardiac conditions with pulmonary hypertension, atrial arrhythmias and mitral valve stenosis, the infection did not lead to any cardiac or pulmonary deterioration. In adults, cardiac co-morbidities are known risk factors for a severe course of coronavirus disease 2019 infections. This case illustrates that in children even severe cardiac disease is not necessarily associated with a severe course of coronavirus disease 2019.

The strange case of congenital mitral stenosis in an adult man with cor triatriatum.

We report the case of a 74-year-old male, with a medical history of cor triatriatum, admitted with a 10-day history of intermittent fever. Three sets of blood cultures were positive for Providencia rettgeri. Transthoracic and transesophageal echocardiogram excluded infective endocarditis, but revealed a congenital accessory tissue adhering to the mitral valve, causing supravalvular mitral stenosis. Cor triatriatum sinistrum is a rare congenital cardiac anomaly, even more uncommon in adults, and quite exceptional when associated with mitral valve disease. Because the patient had no symptoms related to the heart valve disease, no surgical indication was given and he was managed conservatively.

Supra-Annular Mitral Valve Replacement in Infants with Congenital Mitral Valve Disease.

Mitral valve replacement in infants is rare and causes a relatively high mortality, especially for patients under the age of 1. Supra-annular valve replacement is a viable technique for infants with a small valve annulus. Here, we report two infants who underwent mitral valve replacement via the supra-annular technique. The age and body weight of these babies were 2 months and 3 months and 4.1 kg and 4.7 kg, respectively. Aortic mechanical valves were reversely implanted with a short segment of PTFE graft. The purpose of this strategy was to insert a larger mechanical valve and delay resternotomy. A two-year follow-up exam showed normal ventricular function without mechanical valve-related complications. This method is useful in treating neonates and infants. Although the technique of mitral valve repair has improved over several decades, mitral valve replacement still is necessary at times. In neonates and infants with a small annulus, implantation of commercially available prosthetic valves in the annular position can be a challenge, and an age less than 1 year is a risk factor for early death [Selamet 2008]. Supra-annular mitral valve replacement (SMVR) is an alternative when a traditional annular implantation is not feasible [Sung 2008]. Herein, we report the cases of two patients, who underwent SMVR with a follow-up after two years.

Shone's complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome).

Kleefstra syndrome (chromosome 9q34.3 deletion) is a rare genetic disorder with less than 110 patients reported till date. We report a 4-month-old Caucasian girl with Kleefstra syndrome and Shone's complex, an association which has not been previously reported. Surgical planning for patients with Kleefstra syndrome and complex CHD can pose challenges due to an uncertain natural history and a risk of post-operative pulmonary hypertension.

Repair for Congenital Mitral Valve Stenosis.

We report the techniques and long-term outcome of mitral valve (MV) repair to correct congenital mitral stenosis in children. Between 1986 and 2014, 137 children (mean age 4.1 ± 5.0, range 1 month-16.8 years) underwent repair of congenital mitral stenosis (CMS). In 48 patients, CMS is involved in Shone's anomaly. The typical congenital MS (type I) was seen in 56 patients. Hypoplastic MV (type II, n = 15) was associated with severe left ventricular outflow tract abnormalities and hypoplastic left ventricular cavity and muscle mass. Supravalvar ring (type III, n = 48) ranged from a thin membrane to a thick discrete fibrous ridge. Parachute MV (type IV, n = 10) have 2 leaflets and barely distinguishable commissures, but all chordae merged either into 1 major papillary muscle or asymmetric papillary muscles-1 dominant and the other minuscule. Hammock valve (type IV, n = 8) appeared dysplastic with shortened chordae directly inserted into the posterior left ventricular muscle mass. MV repair was performed using commissurotomy, chordal division, papillary muscle splitting and fenestration, and mitral ring resection, each applied according to the presenting morphology. During the 28-year follow-up period, 23 patients underwent repeat MV repair and 3 underwent MV replacement after failed attempts at repeat repair. At 1 and 15 years postoperatively, freedom from reoperation was 89.3 ± 5.1% and 52.8 ± 11.8%, and cumulative survival rates were 92.3 ± 4.3% and 70.3 ± 8.9, respectively. Mortality unrelated to repair accounted for 9 (20%) deaths. Long-term functional outcome of MV repair in children with CMS is satisfactory. Repeat repair or replacement may be deemed necessary during the course of follow-up.

Late outcomes in children with Shone's complex: a single-centre, 20-year experience.

OBJECTIVE: Shone's syndrome is a complex consisting of mitral valve stenosis in addition to left ventricle outflow obstruction. There are a few studies evaluating the long-term outcomes in this population. We sought to determine the long-term outcomes in our paediatric population with Shone's syndrome and the factors associated with left heart growth. METHODS: All patients diagnosed with Shone's syndrome with biventricular circulation treated between 1978 and 2010 were reviewed. Baseline echocardiograms and data from catheterisations were also reviewed. Number of interventions (surgical+transcatheter), incidence of mitral valve replacement, and incidence of heart transplantation were tracked. Survival of the population and left heart structural growth were also reviewed. RESULTS: A total of 121 patients with Shone's syndrome presented at a median age of 28 days (0-17.3 years) and were followed-up for 7.2 years (0.01-35.5 years). These patients underwent 258 interventions during the study period, and the presence of coarctation was associated with repeat left heart interventions. The 10-year, transplant-free survival was 86%. Presence of pulmonary hypertension was associated with mortality. Left heart structural growth was seen for mitral and aortic valve annuli and left ventricular end-diastolic dimension over time. CONCLUSIONS: Shone's syndrome patients undergo a number of left heart interventions. Coarctation of the aorta is associated with an increased likelihood for repeat interventions. Survival appears to be more favourable than expected. Significant left heart growth will occur in the population. Pulmonary hypertension is associated with an increased risk of mortality.

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.

Left ventricular to coronary connections in newborns with a hypoplastic left heart.

We present images and brief clinical summaries of four infants with prominent left ventricular to coronary arterial connections in the setting of hypoplastic left heart, mitral stenosis, and aortic atresia.

Echocardiography of congenital mitral valve disorders: echocardiographic-morphological comparisons.

I surveyed our echocardiographic database of the years between 1998 and 2012 for congenital abnormalities of the mitral valve in patients over 14 years. A total of 249 patients with mitral valve abnormalities were identified. Abnormalities included clefts in the mitral valve in 58 patients, double orifice of the mitral valve in 19, mitral stenosis with two papillary muscles in 72, and mitral stenosis with one papillary muscle in 51 patients. Supravalvar rings were found in 35 patients with a single papillary muscle, and mitral stenoses with two papillary muscles were found in 22 patients. Mitral prolapse occurred in 44 patients and mitral valvar straddle in five patients. The patients were evaluated by all modalities of ultrasound available over the course of time. Although some lesions were isolated, there were many lesions in which more than one mitral deformity presented in the same patient. The patients are presented showing anatomical correlation with autopsy specimens, some of which came from the patients in this series, and others matched to show correlative anatomy. These lesions remain rare as a group and continue to have high morbidity and mortality.

A Rare Association of Parachute Mitral Valve with Double Outlet Right Ventricle and Severe Pulmonary Hypertension in an Adult.

Congenital mitral stenosis (MS) is a rare congenital cardiac malformation and the obstruction to the flow across the mitral valve can be caused by supramitral ring, commissural fusion, short chordae, anomalous mitral arcade, anomalous position of the papillary muscles and the so-called'parachute mitral valve'. We describe here the case of a 47 year old male diagnosed to have a double outlet right ventricle (DORV), subaortic ventricular septal defect (VSD) with no pulmonary stenosis, severe pulmonary hypertension and congenital MS due to parachute mitral valve.

An Undiagnosed Shone Complex in a 52-Year-Old Female: A Case Report.

Shone complex (SC) is a rare congenital heart disease characterized by four obstructive anomalies, including parachute mitral valve (PMV), left atrial supra-valvular ring, subaortic stenosis, and coarctation of the aorta. Typically, SC manifests early in life. However, we encountered a 52-year-old female with a history of hypertension diagnosed at 26 years and left-sided weakness poststroke. She presented with worsening dyspnea and palpitations, prompting a thorough investigation. Echocardiography revealed a heavily calcified bicuspid aortic valve with severe aortic stenosis and parachute mitral valve with severe mitral stenosis and preserved ejection fraction, raising suspicions regarding the presence of SC. Cardiac catheterization, aortic-angiography, and noncontrast chest computed tomography (CT) revealed abrupt occlusion of the postductal aorta, giving a picture of aortic coarctation with well-established collateral vessels including prominent right and left internal mammary arteries. So, she was diagnosed with an incomplete SC at the age of 52. Shone complex is a rare congenital heart disease that typically presents in early childhood, but late presentations due to misdiagnosis or incomplete work up are possible. This case emphasizes the rarity of late presentations of SC and highlights the importance of early diagnosis and intervention to improve outcomes. An incomplete SC should be considered in adult patients presenting with left-sided obstructive lesions.

Persistent truncus arteriosus with double aortic arch and mitral stenosis.

This report describes a case involving the rare combination of persistent truncus arteriosus type A2, double aortic arch, and mitral stenosis. At the age of 26 days, the patient underwent division of the right-sided aortic arch with tracheal compression and bilateral pulmonary banding. Fontan completion was successfully achieved after separation of the pulmonary artery from the arterial trunk, atrial septostomy, and modified Blalock-Taussig shunt at the age of 7 months and bilateral bidirectional Glenn anastomosis at the age of 1 year and 3 months. At this writing, the patient is doing well 2 years and 6 months after Fontan completion.

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.

Congenital mitral valve stenosis: anatomic variants and surgical reconstruction.

Congenital mitral valve stenosis is a heterogeneous group of lesions that can occur as an isolated defect or, more commonly, in association with other left heart obstructive defects. Age at presentation, presence and severity of pulmonary hypertension, and location of the primary obstructing lesion have been shown to be important risk factors for survival and long-term outcomes. Anatomic features vary, and obstructing tissue or tethering structures can be present at all levels of the valve, including supra-annular, intra-leaflet, and sub-valvar. Surgical techniques aim to remove abnormal tissue that is causing the obstruction or impediment to adequate leaflet mobility, and improve the mobility of the sub-valve structures. We describe a series of surgical options for mitral valve reconstruction that address the specific pathologies frequently found in congenital mitral stenosis.

Atypical Shone's complex diagnosed by echocardiography.

Shone's complex is a rare and severe type of congenital left-sided obstructive lesion of multiple cardiovascular levels. This report aims to present the authors' experience diagnosing atypical Shone's complex using echocardiography. Atypical Shone's complex was diagnosed for 38 consecutive patients (18 boys and 20 girls, ages 1 day to 15 years) using echocardiography. All the diagnoses were confirmed by cardioangiography, surgery, or both. Among the congenital left-sided obstructive lesions, four levels of obstruction coexisted in 3 cases (7.9%), three levels in 10 cases (26.3%), and two levels in 25 cases (65.8%). Supra-annular mitral stenosis caused by a supravalvular mitral ring was diagnosed in 1 case. Mitral valvular stenosis was diagnosed in 24 cases including a parachute mitral valve (4 cases), a double-orifice mitral valve (1 case), and partly fused thickened mitral valvular leaflets (19 cases). Subaortic stenosis was diagnosed in 10 cases including circumferential membranous subaortic stenosis (1 case), tunnel-type subaortic narrowing (2 cases), and asymmetric obstructive fibrous ridge below the aortic valve (7 cases). Aortic stenosis was diagnosed in 25 cases including the bicuspid aortic valve (12 cases), the hypoplasia aortic annulus (3 cases), and partly fused or thickened tri-leaflet aortic valves (10 cases). Supra-aortic stenosis was diagnosed in 6 cases including the localized type (4 cases) and the diffused type (2 cases). Coarctation of the aorta was diagnosed in 26 cases. Of these, focal coarctation was described in 15 cases, long segment coarctation in 7 cases, and dysplastic isthmus and/or descending aorta in 4 cases. Secondary changes in Shone's complex manifested as left atrial dilation (26 cases), left ventricular hypertrophy (26 cases), and pulmonary hypertension (19 cases). Echocardiography plays an important role in the diagnosis of atypical Shone's complex, in comprehensive evaluation of the number, position, morphology, and severity of left-sided obstructions.

Hypoplastic left heart syndrome and aortic atresia-mitral stenosis variant: role of myocardial protection strategy and impact of ventriculo-coronary connections after stage I palliation.

Aortic atresia-mitral stenosis (AA-MS) has been implicated as a determinant of outcome after Stage-1 palliation (S1P) in hypoplastic left heart syndrome (HLHS).Studies evaluating the association of AA-MS with ventriculo-coronary connections (VCC) and mortality report conflicting results. The significance of VCC, myocardial protection, and shunt strategy after S1P has yet to be determined. Between January 2005 and July 2009, 100 neonates with HLHS underwent S1P. Mitral and aortic valves and presence of VCC were assessed. Antegrade continuous cold blood cardioplegia was administered throughout the vast extent of the neo-aortic reconstruction. A right ventricle-to-pulmonary shunt was used for an ascending aortic diameter of 0.6 mm/kg or less. Survival analysis was performed to determine predictors and assess impact of AA-MS and VCC on hospital and interstage mortality. Twenty-seven (of 100) patients had AA-MS. The mean age and weight at S1P were 6.5 ± 2.8 days and 3.09 ± 0.47 kg, respectively. VCC were found in 56% of AA-MS. Twenty-two had Norwood-Sano, 3 had classic Norwood, and 2 had hybrid S1P. VCC were associated with AA-MS, endocardial fibroelastosis, and ascending aortic size <2 mm (P < 0.05) but not higher mortality (P = ns). Operative and interstage survival for AA-MS after S1P was 85.2 and 71%, respectively (not statistically different compared to all other subtypes; P = ns). Actuarial survival after S1P at 1, 3, 6, 12, and 36 months was 92.9 ± 4.9, 78.6 ± 7.8, 75 ± 8.2, 71.3 ± 8.3, and 71.3 ± 8.3%, respectively. Intact atrial septum and post-S1P renal dysfunction (P < 0.05) were independent predictors of hospital and interstage mortality. In patients with HLHS, AA-MS carries no survival disadvantage after S1P during the hospital and interstage period regardless of VCC. Intact atrial septum and post-S1P renal dysfunction predict early and interstage mortality. Myocardial protection and shunt strategy might influence the outcome in this HLHS variant.

Mitral valve replacement in infants and younger children.

Data on mitral valve replacement (MVR) in young children is still limited. Our objective was to evaluate MVR in children below 5 years and identify factors affecting the outcomes. This retrospective study included 29 patients who had MVR from 2002 to 2020. We grouped the patients into two groups according to their age: age ≤ 24 months (n = 18) and > 24 months (n = 11). Primary cardiac diagnoses were Shone complex (n = 7; 24%), isolated congenital mitral valve abnormality (n = 11; 38%), and complete atrioventricular septal defect (n = 3; 10%). The median age was 19 month (25th-75th percentile: 11-32) and 59% were females (n = 17). The hemodynamic lesions were mitral regurgitation in 66%, mitral stenosis in 10%, and combined mitral stenosis and regurgitation in 24% of the patients. St. Jude mitral valve was the most common valve implanted (n = 19, 66%), followed by CarboMedics in 21% of the patients (n = 6). The mitral valve was implanted in the supra-annular position in 6 cases (21%). Preoperative and operative data were comparable between both groups. There was no association between valve size and position with postoperative heart block (P > 0.99, for both). The median follow-up duration was 19.4 months (8.6-102.5). Nine patients had mitral valve reoperation, six had MVR, and three had clot removal from the mitral valve. There was no effect for age group on reoperation (SHR 0.89 (95% CI 0.27-2.87), P = 0.84). Valve size significantly affected reoperation (SHR 0.39 (95% CI 0.18-0.87), P = 0.02). The supra-annular position was associated with an increased risk of reoperation (SHR 3.1 (95% CI 1.003-9.4), P = 0.049). There was no difference in survival according to the age (Log-rank P = 0.57) or valve size (Log-rank P = 0.66). Mitral valve replacement in children is associated with low morbidity and mortality. The risk of reoperation could be affected by the valve size and position rather than the age.

Modified Implant Technique of Perceval Sutureless Valve in Congenital Type 0 Bicuspid Valve Stenosis.

The Perceval sutureless valve has gained in popularity for treating degenerative aortic valve stenosis but not for congenital type 0 bicuspid aortic valve owing to anatomic challenges. We modified implant techniques following the four principles of ECHO-an acronym for elasticity, circularity, height, and orientation-to prevent paravalvular leakage and malposition.