Supravalvular Mitral Stenosis Research Articles

Single-step surgical procedure for total replacement of the thoracic aorta in a case of Turner syndrome

Turnersyndrome(TS)isawell-definedautosomaldominantgenetic syndrome caused by a partial or complete monosomy of the chromosome X(45,X0). Cardiovascular complications are mostly responsible forreducedlifeexpectancy.Themaincardiacabnormalitiesarebicuspid aortic valve and aortic coarctation in approximately 16% and 11% of the patients, respectively [1]. A dilatation of major vessels is also observed, above all of the aorta and of the carotid and the brachial arteries. Aortic disease in TS is characterizedbya “connective tissue disorder”similarto that seen in Marfansyndrome. Ascending aorta dilatation is observed in 33% of the cases, and the incidence of aortic dissection is much higher than for women in general, occurring in the third and fourth decades of life [2]. We present a case of TS with bicuspid aortic valve plus hypoplastic aortic arch and chronic aneurysm of the descending thoracic aorta. Informed consent was obtained by the patient. The patient, a 38-year-old woman (Body Surface Area: 1.34 m 2 ; Aortic Size Index: 2.6 cm/m 2 ) with 45,X0 karyotype diagnosed at birth, presented a bicuspid aortic valve, an aortic coarctation, a left superior vena cava and patent ductus arteriosus. At 11 months, she underwent surgical repair of isthmic coarctation and patent ductus closure. After that, she was followed by regular examinations until the age of six, when she was operated on for an excision of a supravalvular mitral stenosis. During the following years, the patient had a normal quality of life up to 38 years when an echocardiogram showed mild aortic regurgitation

The “Polar Light Sign” is a useful tool to detect discrete membranous supravalvular mitral stenosis

Mitral valve stenosis caused by a discrete supravalvular membrane is a rare congenital malformation haemodynamically leading to significant mitral valve stenosis. When the supravalvular mitral stenosis consists of a discrete supravalvular membrane adherent to the mitral valve, it is usually not clearly detectable by routine echocardiography. We report about the typical echocardiographic finding in three young patients with this rare form of a discrete membranous supravalvular stenosis caused by a membrane adherent to the mitral valve. These cases present a typical echocardiographic feature in colour Doppler generated by the pathognomonic supramitral flow acceleration. Whereas typical supravalvular mitral stenosis caused by cor triatriatum or a clearly visible supravalvular ring is easily detectable by echocardiography, a discrete supravalvular membrane adjacent to the mitral valve leaflets resembling valvular mitral stenosis is difficult to differentiate by routine echocardiography. In our opinion, this colour phenomenon does resemble the visual impression of polar lights in the northern hemisphere; owing to its typical appearance, it may therefore be named as "Polar Light Sign". This phenomenon may help to detect this anatomical entity by echocardiography in time and therefore improve the prognosis for repair.

Congenital supravalvular mitral stenosis in 14 cats

ObjectivesTo describe the clinical features of congenital supravalvular mitral stenosis (SVMS) in cats. BackgroundSupravalvular mitral stenosis is an uncommon congenital cardiac defect that has not been previously reported in a series of cats. Animals14 cats with SVMS. MethodsMedical records, relevant diagnostic studies and preserved pathology specimens were reviewed. ResultsCats were presented over a wide age range (5 months–10 years; median 3 years); males (n = 9) and the Siamese breed were over-represented. Presenting complaints included respiratory distress (n = 6), hindlimb paralysis due to aortic thromboembolism (n = 5) and asymptomatic heart murmur (n = 3). Echocardiographic examination often identified pulmonary hypertension (PHT) (n = 7) and concurrent cardiac abnormalities (n = 7), especially partial atrioventricular septal defect (PAVSD) (n = 4). Status 12 months following diagnosis was known for 9 cats; 8 of these had died or were euthanized. ConclusionsCats with SVMS are usually presented as young adults for respiratory signs attributable to congestive heart failure, aortic thromboembolism or incidental murmur identification. Congestive heart failure, PHT and concurrent congenital cardiac abnormalities (specifically PAVSD) are common. Long-term prognosis for symptomatic cats is poor.

The added value of real-time three-dimensional echocardiography in the diagnosis of supravalvar mitral ring: case report and review of the literature.

Supravalvular mitral stenosis is a rare condition characterized by an abnormal ridge, with one or two orifices, covering and obstructing the mitral valve. Preoperative identification of the supravalvular ring is the target for obtaining good surgical results. Two-dimensional echocardiogram and transesophageal echocardiography both failed in reaching this objective. In this case, we showed that three-dimensional echocardiogram is a new technique that provides additional and more accurate echocardiographic characterization of congenital supravalvular mitral stenosis.

Rare Flow Pattern in a Patient with Cor Triatriatum

Doppler echocardiography demonstrated a rare flow pattern due to cor triatriatum that is also present in subvalvular or supravalvular mitral stenosis: a forward gradient, in both systole and diastole.

Congenital heart disease.

The vast majority of animals with congenital heart disease present with an audible murmur; thus, auscultation is the initial key diagnostic test. Nearly all congenital defects have a systolic murmur - except most notably a patent ductus arteriosus (PDA), which has a characteristic continuous murmur. However, some rare defects may have no murmur, such as a reversed/balanced shunt. Recent reviews of congenital heart disease are available. In very young puppies and kittens, flow murmurs are common. They are difficult to differentiate from a congenital defect on auscultation alone and thus create a diagnostic dilemma for the clinician when a murmur is discovered, and cause problems on how best to advise the owner. Murmurs in puppies and kittens; Patent ductus arteriosus; Aortic stenosis; Pulmonic stenosis; Ventricular septal defect; Mitral dysplasia; Atrial septal defect; Tricuspid dysplasia; Tetralogy of Fallot; Atrioventricular septal defect; Cor triatriatum dexter; Cor triatriatum sinister (CTS) and supravalvular mitral stenosis (SMS); and Other congenital defects are discussed.

Mitral valve replacement in the first year of life

From 1973 through 1987 25 patients underwent mitral valve replacement in the first year of life for mitral stenosis and mitral regurgitation. The patients with mitral stenosis included two with mitral arcade, two with supravalvular mitral stenosis with hypoplastic mitral valve, and one with parachute mitral valve. Included in the group of patients with mitral regurgitation were 12 with atrioventricular canal defect, six with chordal and leaflet defects, one with Marfan's syndrome, and one with bacterial endocarditis. Prostheses included 12 Björk-Shiley (17 mm), seven St. Jude Medical (19 mm in four, 21 mm in three), five stent-mounted dura mater valves (12 mm to 16 mm), and one porcine xenograft (19 mm). In four patients the valves were placed in the left atrium in a supraannular location. There were nine operative (atrioventricular canal defect seven, mitral regurgitation two) and five late (atrioventricular canal defect four, mitral stenosis one) deaths, giving actuarial 1- and 5-year survival rates of 52% and 43%, respectively. All 6 patients with tissue valves died; the four with supraannular mitral valve replacement survived. Since 1983 operative mortality has been reduced to 0% (70% confidence limits 0% to 24%). Nine patients required a second mitral valve replacement for prosthetic stenosis 5 to 69 (mean 30) months after the original mitral valve replacement (one operative death). Because of improvements in repair of atrioventricular canal defect in infancy, the need for mitral valve replacement at atrioventricular canal defect repair has decreased. Although valvuloplasty has been advocated for repair of congenital mitral valve disease and is applicable in some infants with mitral regurgitation, mitral valve replacement is frequently unavoidable for congenital mitral disease and can now be accomplished at a low operative risk, even when the prosthesis has to be positioned supraannularly.

Membranous supravalvular mitral stenosis: A treatable form of congenital heart disease

The clinical data, echocardiographic findings, operative anatomy and postoperative follow-up were assessed in 14 patients who had surgery for membranous supravalvular mitral stenosis between 1978 and 1985. The patients ranged in age from 6 weeks to 13 years at the time of operation, and 8 of the 14 had associated mitral valve abnormalities. Other associated lesions included ventricular septal defect (n = 7), coarctation of the aorta (n = 5), left superior vena cava (n = 6), subaortic stenosis (n = 3) and atrial septal defect (n = 1). Twelve of the 14 patients had successful removal of the supravalvular membrane, which was usually adherent to the valve, and 2 patients with associated mitral valve abnormalities underwent mitral valve replacement. There were no operative deaths. Review of preoperative two-dimensional echocardiograms, which were available in 11 patients, revealed two types of membranous supravalvular mitral stenosis in 10 patients. In four of these patients, the membrane was only evident after repeated stop action viewing from a single subcostal or parasternal location. The membrane was never seen in one patient. Eleven patients had follow-up in excess of 1 year, and there was one late death. Eight of the remaining 10 patients are asymptomatic, and 7 have no clinical evidence of residual mitral obstruction. Failure to recognize membranous supravalvular mitral stenosis can result in undue delay of cardiac surgery with resultant cardiopulmonary deterioration. Patients with evidence of left ventricular inflow obstruction should have extensive echocardiographic evaluation in an effort to detect membranous supravalvular mitral stenosis, which may be amenable to surgical repair.

Supravalvular mitral stenosis associated with tetralogy of Fallot

The association of tetralogy of Fallot with supravalvular mitral stenosis is a rare anomaly that has been reported only once previously. The difficulty of preoperative diagnosis is emphasized. Although left-sided obstructive lesions in association with tetralogy of Fallot are rare, their recognition is imperative since these are surgically correctable anomalies and potentially lethal, as proved in this case and the one previously reported.

Supravalvular mitral stenosis in a patient with tetralogy of Fallot

Supravalvular mitral stenosis was found in association with tetralogy of Fallot in an 8 year old boy who died of an intercurrent respiratory infection. This association was not diagnosed during life. However, the electrocardiographic features of right ventricular strain combined with left atrial enlargement should have suggested mitral obstruction. The relatively high pulmonary artery pressure in a patient with a tetralogy and the angiographic findings of large branch pulmonary arteries and a left atrium with prolonged emptying should also lead one to suspect this combination. Surgical correction in such cases must include an attack on the mitral valve.

Supravalvular mitral stenosis associated with ventricular septal defect, subvalvular aortic stenosis and double aortic arch

We have presented the case of a 14 year old girl admitted to the hospital with irreversible heart failure. Clinically, a ventricular septal defect associated with congenital mitral stenosis or cor triatriatum was suspected. The anatomic examination showed the following congenital malformations: (1) A rare type of supravalvular mitral stenosis constituted by a semicircular fibrous band originating at the level of the posterior leaflet and protruding into the mitral orifice causing obstruction; (2) a large ventricular septal defect; (3) mild subvalvular aortic stenosis; (4) double aortic arch; and (5) persistent left superior vena cava. The clinical picture was dominated by the ventricular septal defect and mitral stenosis. The subvalvular aortic stenosis did not appear to produce a significant obstruction, and the double aortic arch had produced symptoms only in the first years of life.

Preoperative Diagnosis and Surgical Correction of Supravalvular Mitral Stenosis and Ventricular Septal Defect

A child with supravalvular mitral stenosis plus ventricular septal defect is reported in whom the correct diagnosis was suspected clinically, confirmed by cardiac catheterization, and successfully treated surgically. Only eight previous cases of supravalvular mitral stenosis have been reported; five of the eight have had associated ventricular septal defects. None was correctly diagnosed before autopsy or surgery. Our patient had a murmur and thrill characteristic of a ventricular septal defect. The pertinent clinical findings suggesting concomitant mitral stenosis consisted of a mitral mid-diastolic murmur that was unusually loud for the magnitude of the left-to-right shunt; a presystolic component to the diastolic murmur; marked left atrial enlargement by x-ray with only moderate pulmonary plethora; and electrocardiographic evidence of left atrial hypertrophy and marked pure right ventricular hypertrophy. Right heart catheterization showed labile passive pulmonary hypertension. Left atrial puncture revealed high proximal and low distal pressure. Surgical correction of both lesions by total cardiac bypass was accomplished through a midline sternal-splitting incision. The supravalvular mitral membrane was excised from the right atrium through an incision in the atrial septum.