Parachute Mitral Valve and Mid-Aortic Syndrome - Unusual Associations of Alagille Syndrome.

Background: Alagille syndrome (ALGS) is a multisystem disorder involving at least three systems among the liver, heart, skeleton, face, and eyes. Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF). Coarctation of aorta (CoA), renal and intracranial arteries are commonly involved vessels in Alagille syndrome. We present two cases with rare cardiovascular manifestations of Alagille syndrome. Case description. Case 1: A 25-year-old female with a history of Alagille syndrome presented to the cardiologist office for progressive exertional dyspnoea, orthopnoea, and palpitations. She was tachycardiac on examination and had an apical diastolic rumble. A transthoracic echocardiogram (TTE) showed a left ventricular ejection fraction (LVEF) of 60% and parachute mitral valve (PMV) with severe mitral stenosis. A transoesophageal echocardiogram (TOE) showed insertion of chordae into the anterolateral papillary muscle, severe mitral stenosis with a valve area of 0.7 cm. She was referred to a congenital heart disease specialist and underwent robotic mitral valve replacement with improvement in her symptoms. Case 2: A 27-year-old female with known Alagille syndrome and resistant hypertension presented to the cardiologist office due to progressive exertional dyspnoea for a year. She was hypertensive and had a new 2/6 systolic ejection murmur along the left upper sternal border. TTE revealed an LVEF of 60% and pulmonary artery pressure of 19 mmHg. A CoA was suspected distal to the left subclavian artery due to a peak gradient of 38 mmHg. Cardiac magnetic resonance (CMR) imaging ruled out CoA, and diffuse narrowing of the descending thoracic aorta measuring 13-14 mm in diameter was noted. The patient was referred to a congenital heart disease specialist for further management. Conclusion: PMV presenting as mitral stenosis and mid-aortic syndrome are not commonly described anomalies in association with Alagille syndrome. TTE, TOE and CMR played a key role in diagnosis and management of these patients. LEARNING POINTS: Alagille syndrome (ALGS) is a complex multisystem disorder involving the liver, heart, skeleton, face, and eyes. Cardiovascular involvement occurs in up to 95% of the patients.Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF).A parachute mitral valve (PMV) presenting as mitral stenosis and mid-aortic syndrome is not commonly described anomalies in association with ALGS. Here, we present such rare cases.

Revealing the true nature of a parachute mitral valve during an ultra-trail race.

Pre-participation screening and management of congenital cardiac valvulopathy in competitive athletes can be challenging, particularly within the context of ultra-endurance disciplines. A 55-year-old female athlete without a reported history of cardiac disease exhibited clinical signs of cardiogenic pulmonary edema during a 156 km ultra-trail race. The echocardiographic assessment revealed the presence of a parachute mitral valve, with no evidence of mitral stenosis or regurgitation at rest, but it demonstrated severe dynamic mitral stenosis during exercise. In competitive athletes, the detection of rare valvulopathy should prompt a comprehensive cardiac evaluation aimed at assessing the potential for dynamic valvular dysfunction.

Non-syndromic Parachute Mitral Valve "When the Valve Dives in": Case Report and Review of the Literature.

A parachute mitral valve (PMV) is a congenital mitral valve anomaly diagnosed in infancy, and it can also be discovered in adults during echocardiography. Surgical management is common in infants to prevent complications from left-heart obstructions. In adults, PMV may be found independently or with other cardiac defects. Prophylactic antibiotics are recommended for certain congenital heart anomalies before dental procedures. A study suggests reconsidering guidelines to include anomalies like bicuspid aortic valve and MVP for antibiotic prophylaxis. PMV, with transvalvular blood flow turbulence, may increase the risk of infective endocarditis, as seen in a reported case with a parachute-like mitral valve. Here, we present the case of a 62-year-old female incidentally found to have a PMV during an echocardiogram.

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.

[Rare case of incomplete Shone syndrome in adult man with marfanoid morphotype]. / 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 an Adult.

Two-dimensional transthoracic echocardiography images for a 49-year-old female with a history of ventricular septal defect status post repair, type 2 diabetes mellitus, and hyperlipidemia whose evaluation of her lower extremity edema showed parachute mitral valve.

Surgical treatment of Shone's syndrome and patent ductus arteriosus in an adult.

BACKGROUND: Shone's syndrome is a rare complex congenital anomaly. The classical definition consists of four anomalies: supravalvular mitral membrane, parachute mitral valve (PMV), subaortic stenosis, and coarctation of the aorta (CoA). Few studies have been reported on Shone's syndrome in adults, particularly the primary surgical correction of the anomalies. CASE PRESENTATION: A 22-year-old female patient presented with chest distress and tachypnea. Echocardiography and CT revealed supravalvular mitral membrane, PMV, Bicuspid aortic valve stenosis, CoA and patent ductus arteriosus. She underwent primary definitive surgical correction successfully and was discharged from hospital with symptoms free. CONCLUSIONS: Our case report highlights the importance of echocardiographic evaluation in the diagnosis of Shone's syndrome. The surgical strategy should be tailored according to both the patient's profile and the surgeon's personal surgical experience. Extra-anatomical bypass procedure is an appropriate technique for adult patients with long-segment coarctation and concomitant cardiac lesions. The outcomes of the case study indicate that the primary definitive surgery is encouraging.

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.

A case of variant parachute mitral valve associated with mitral annular disjunction arrhythmic syndrome.

Parachute mitral valve (PMV) is a rare congenital cardiac valvular anomaly often associated with other congenital cardiac defects, particularly Shone's complex, but may infrequently occur in isolation. PMV and its variants are predominantly associated with mitral stenosis (MS) or rarely mitral regurgitation (MR). We present the case of a middle-aged female who was evaluated for a syncopal episode and found to have an atypical variant PMV with disproportionately long anterior mitral leaflet, bileaflet mitral valve prolapse, and mitral annular disjunction, without associated MS or MR. This is the first case report to highlight this particular constellation of findings.

Parachute mitral valve associated with reticular chordae tendineae in an adult: case report.

BACKGROUND: Parachute mitral valve with reticular chordae tendineae is an extremely rare anomaly. CASE PRESENTATION: We present a case of parachute mitral valve associated with distinctive reticular chordae tendineae in an adult. It was diagnosed from the echocardiogram. The patient was referred for surgery. Valve analysis showed thickened mitral valve leaflets and commissures. The chordae tendinae were lengthy and thick. All the chordae tendinae merged into a solitary papillary muscle. A distinctive reticular fibrous tissue was found on mitral valve apparatus as the chordae tendinae intermixed each other. The only functional communication between the left atrium and the left ventricle was through the reticular spaces. This anomaly was considered to be unrepairable and was replaced with a mechanical valve. CONCLUSIONS: An extremely rare and unique case of parachute mitral valve associated with reticular chordae tendineae was reported. Mitral valve replacement is a reasonable choice in patients with parachute mitral valve with reticular chordae tendineae.

Outcomes of biventricular repair for shone's complex.

BACKGROUND: Shone's complex is a rare lesion affecting the mitral valve (MV) and left ventricular outflow tract (LVOT). The objective of this study is to report the outcomes after Shone's complex repair, the growth of mitral and aortic valve and LVOT, and long-term survival. METHODS: This retrospective study included all patients diagnosed with Shone's complex, who underwent biventricular repair. Data including patients' characteristics, type of the MV lesion and the associated lesions were collected. Patients were followed up regularly with echocardiography, and the changes in mitral and aortic valve z-score and LVOT z-score were recorded. RESULTS: Thirty-seven patients were included in the study, the median age was 3.4 months, and 11 patients (30.6%) had pulmonary hypertension. The main procedure performed during the first surgical intervention was coarctation repair in 26 patients (70%). Twelve patients had MV repair, and five had MV replacement. Operative mortality occurred in 1 patient (2.7%), median follow up was 52 (25-75th percentile: 22-84) months. Survival at 1, 5, and 10 years was 94.4%, 90%, and 76.9%, respectively. Reoperation was required in 13 patients, mainly for LVOT repair (n = 8). Reoperation was significantly associated with associated aortic valve lesion (p = .044). The growth of the MV z-score was 0.35 per year; p < .001, aortic valve z-score 0.086 per year; p = 0.422, and the LVOT z-score was 0.53 per year; p = .01. CONCLUSION: Biventricular repair of Shone's complex has good outcomes. Reoperation is frequently encountered, especially with low aortic valve z-score. The MV and LVOT have significant growth following Shone's complex repair.

Mitral valve repair for a parachute-like asymmetrical mitral valve during pregnancy.

BACKGROUND: Parachute mitral valves (PMV) and parachute-like asymmetrical mitral valves (PLAMV) presenting in adulthood is rare. CASE REPORT: A 27-year-old primigravida, with 25 weeks of amenorrhea, presented with exertional dyspnea (NYHA class-2). She had a PLAMV, severe mitral stenosis, moderate central mitral regurgitation and pulmonary artery systolic pressure of 102 mm Hg. She underwent a successful valve repair. DISCUSSION: PMV/PLAMV and pregnancy present a dual challenge. In our case mitral repair resulted in a near-normal valve function and allowed our patient to safely carry her pregnancy to term.

Double outlet right ventricle, pulmonary stenosis and congenital mitral stenosis.

A 4-year-old girl child was diagnosed with double outlet right ventricle (DORV), severe pulmonary stenosis, and supramitral ring. This case is presented to bring to light this rare association. Through this report, we aim to stress importance of assessing mitral apparatus on echocardiography during evaluation for situations like DORV and Tetralogy of Fallot (TOF). The physiological differences in such situations as opposed to their isolated counterparts and special postoperative outcomes are also discussed.

A successful report of mitral valve repair for parachute-like mitral valve in adult.

A 65 year-old man was diagnosed with congestive heart failure secondary to severe mitral regurgitation resulting from a parachute-like asymmetrical mitral valve. We performed mitral annuloplasty and triangular resection of the thick tissue. The postoperative course was uneventful with no recurrence of mitral regurgitation.

"Double-Parachute" Mitral Valve.

A 38-year-old asymptomatic man was referred by his general practitioner for a 3/6 systolic heart murmur, which was detected during a routine consultation. Echocardiography revealed a parachute mitral valve associated with a parachute-like membrane, causing significant subaortic obstruction that was eventually surgically resected with an excellent postoperative outcome. (Level of Difficulty: Beginner.).

Incomplete Form of Shone Complex in an Adult Congenital Heart Disease Patient.

Shone complex is a rare congenital disorder that involves 4 obstructive lesions of the left heart, as follows: parachute mitral valve, supravalvular mitral ring, subaortic stenosis, and coarctation of the aorta. Incomplete forms with 2 or 3 of these lesions in adult patients have been rarely reported in the literature, meaning that insufficient general data exist concerning the surgical strategy and clinical follow-up. Herein, we report the case of a 31-year-old woman with a diagnosis of incomplete form of Shone complex with parachute mitral valve and coarctation of the aorta who underwent successful single-stage surgical repair.

Parachute mitral valve assessed by cardiac magnetic resonance.

Parachute mitral valve (PMV) is a congenital cardiac malformation where typically all tendons chordae converge and insert into one major papillary muscle. We report the case of 27-year-old man affected by Hodgkin's lymphoma-mixed cellularity subtype with polychemotherapy treatment and Barrett's esophagus who came to our attention for routine echocardiographic exam and evaluation of left ventricular function. In the presence of normal left ventricular systolic function and mild-moderate mitral regurgitation, a careful examination of mitral apparatus showed a single papillary muscle suspected for PMV. In the presence of Barrett's esophagus, the patient was further assessed cardiac magnetic resonance (CMR) that confirmed the diagnosis of PMV and excluded other associated congenital anomalies. Despite the rare incidence of PMV and a diagnosis generally based on transesophageal echocardiography, CMR could represent a useful tool, in selected cases, to confirm the diagnosis of PMV, identify other possible congenital anomalies, and assess ventricular and valvular function.

A rare case of accessory mitral valve tissue causing left ventricular outflow tract obstruction associated with parachute mitral valve, ventricular septal defect, bicuspid aortic valve, unruptured aneurysm of aortic sinus: a case report.

BACKGROUND: Accessory mitral valve tissue rarely causes left ventricular outflow tract obstruction in adults. It is often associated with other cardiac and vascular congenital malformations. Here, we report the rarest presentation of accessory mitral valve tissue (AMVT) causing left ventricular outflow tract obstruction. CASE SUMMARY: A 22-year-old female patient presented with a history of shortness of breath and chest pain for more than 5 years. A diagnosis of AMVT with parachute mitral valve, ventricular septal defect (VSD), bicuspid aortic valve, unruptured aneurysm of aortic sinus, and left ventricular outflow tract obstruction was made. Successful closure of VSD with mitral valve replacement, excision of AMVT, and repair of the aortic sinus were performed. The post-operative course was uneventful, and an echocardiogram showed complete resection of the accessory mitral valve, no residual shunt and no left ventricular outflow gradient. Additionally, the peak gradient of rapid filling phase and atrial systolic phase across the prosthetic mitral valve were 16 mmHg and 4 mmHg, respectively. The peak velocity across left ventricular outflow tract was 1.4 m/s. DISCUSSION: Accessory mitral valve tissue is associated with other cardiac abnormalities and is usually diagnosed in the first or second decade of life. It is responsible for left ventricular outflow tract obstruction. The obstruction can occur in the early period of life due to continued deposition of fibrous tissues within left ventricular outflow tract. Accessory mitral valve tissue should be considered a rare but important cause of left ventricular outflow tract obstruction.

Supravalvar mitral ring with a parachute mitral valve and subcoarctation of the aorta in a child with hemodynamically significant VSD. A study of the morphology, echocardiographic diagnostics and surgical therapy.

The authors present a case of echocardiographic diagnosis of supravalvar mitral ring (a fibromembranous structure that arose from the atrial surface of the mitral leaflets) in a child with a parachute mitral valve, a ventricular septal defect, and mild narrowing of the aortic isthmus. The supravalvar mitral stenosis is a typical but very infrequently detected element of the complex of anatomical abnormalities located within the left heart and the proximal aorta, called the Shone's complex (syndrome). Diagnosing an additional, hemodynamically significant anatomic defect during echocardiography was possible thanks to the detection of marked mobility limitation of the ring-adjacent part of the mitral valve mural leaflet as well as of an atypical image of turbulence occurring during the inflow from the left atrium to the left ventricle. The early diagnosis made it possible to perform complete correction of this complex congenital defect within a single operation.

Parachute mitral valve and Pacman deformity of the ventricular septum in a middle-aged male.

Parachute mitral valve and Pacman heart (incomplete muscular ventricular septal defect) are rare congenital deformities usually reported in infants and children. Very few adult patients with these anomalies are reported but the association of the two has not been described. This report describes a 56-year-old male with exertional dyspnea who was detected to have moderately severe mitral regurgitation and mitral stenosis. Typical parachute deformity of the mitral valve with a reduced opening and common attachment of all the chordae to a single posteromedial papillary muscle was evident. The chordae were elongated, lax, and redundant, which is atypical for this anomaly. Incidentally, detected aneurysm of the basal muscular interventricular septum (Pacman deformity or incomplete triangular septal defect) was also present.