A 4-year-old child with supramitral membrane (SMM) causing severe mitral stenosis (MS) was taken for excision of the membrane. Intraoperative transesophageal echocardiography showed a large thrombus in the left atrial appendage (LAA) in addition to SMM. The case underscores the importance of this extremely rare association and prompt therapy to prevent catastrophic consequences.

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.

Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease, and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy-number variants, and single gene mutations. CDH is the most expensive noncardiac congenital defect. Management frequently requires implementation of extracorporeal membrane oxygenation (ECMO), which increases management expenditures 2.4-3.5-fold. The cost of management of CDH has been estimated to exceed $250 million per year. Despite in-hospital survival of 80%-90%, current management is imperfect, as a great proportion of surviving children have long-term functional deficits. We report the case of a premature infant prenatally diagnosed with CDH and congenital heart disease, who had a protracted and complicated course in the intensive care unit with multiple surgical interventions, including postcardiac surgery ECMO, gastrostomy tube placement with Nissen fundoplication, tracheostomy for respiratory failure, recurrent infections, and developmental delay. Rapid whole-genome sequencing (rWGS) identified a de novo, likely pathogenic, c.3096_ 3100delCAAAG (p.Lys1033Argfs*32) variant in ARID1B, providing a diagnosis of Coffin-Siris syndrome. Her parents elected palliative care and she died later that day.

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.

BACKGROUND: Congenital anomaly wherein the mitral valve leaflets are directly attached to the papillary muscle(s) (PM) with or without short under-developed chords is rarely reported in adults. Patients with two PMs with an intervening fibrous bridge have also been included under this head in previous studies.
METHODS: Echocardiography enables accurate evaluation of the morphology and function of valve leaflets, chordae tendineae, and PM. This report describes a series of six patients aged 56-84 years who had abnormal mitral valve with a large solitary and anomalously inserted PM seen over a period of 3 years. Only those patients who had a single pillar or bridge-like PM and either absent tendinous chords or small under-developed chords were included in the analysis.
RESULTS: Among 9600 consecutive echocardiograms performed, six patients met the criteria of an abnormal mitral valve with solitary large PM. Two patients underwent mitral valve replacement with partial excision of the PM wherein echocardiographic observations were confirmed. The patients were previously followed with the diagnosis of hypertrophic cardiomyopathy (3) and rheumatic mitral valve disease (3). Multi-planar reconstruction of 3D echocardiographic images provided incremental value in assessing the detailed patho-anatomy of PMs in these cases.
CONCLUSIONS: In adult patients, a high index of suspicion is required to detect congenital mitral stenosis/regurgitation with large solitary PM (resembling a parachute mitral valve) which may masquerade as hypertrophic cardiomyopathy or rheumatic mitral valve disease.

The spectrum of congenital mitral valve stenosis (MS) consists of a complex of defects that result in obstruction to left ventricular inflow. This spectrum includes patients with underdeveloped left heart structures (Fig. 1) to those with isolated congenital MS. The specific mitral valve defects can further be divided into categories based on the relationship to the mitral valve annulus including valvar, supravalvar and subvalvar components. Clinically, these patients present based on the degree of obstruction, associated mitral regurgitation, secondary pulmonary hypertension, associated lung disease and/or associated cardiac lesions. There are a number of factors that contribute to the successful outcomes in these patients including pre-operative imaging, aggressive surgical techniques and peri-operative management.

The surgical treatment of mitral valve disease in children is a challenging problem. Mitral stenosis and regurgitation may occur in isolation or together. Mitral valve repair is almost always preferable to replacement. Mitral valve replacement is not an ideal alternative to repair due to limitations of size, growth, structural valve degeneration, anticoagulation and poor survival. Surgical repair of congenital mitral stenosis must address the multiple levels of obstruction, including resection of the supramitral ring, thinning of leaflets and mobilization of the subvalvular apparatus. Sometimes leaflet augmentation is required. Repair of mitral regurgitation in children may involve simple cleft closures, edge-to-edge repairs, triangular resections and annuloplasties. Techniques used in adults, such as annuloplasty bands or artificial chords, may not be appropriate for children. Overall, an imperfect mitral valve repair may be more acceptable than the negative consequences of a replacement in a child.

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 cm(2) 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 cm(2)). 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.

Mitral valve disease is quite variable and can occur as an isolated defect or in association with other complex left sided lesions. These lesions are often best described with detailed pre-operative imaging studies to define the valve anatomy and to access associated left heart disease. Depending on the type of mitral valve disease, various surgical repair techniques have led to improved survival in the recent era. We describe lesion specific approach to mitral valve repair and results.