Cases reported "mitral valve prolapse"

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1/284. A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family.

    Activating mutations of the TSH receptor (TSH-R) have been reported to result in toxic adenomas, multinodular goiters, sporadic neonatal hyperthyroidism, and familial autosomal dominant nonautoimmune hyperthyroidism. To date, all descriptions of such mutations, whether somatic or genomic, have been confined to the Caucasian population. We describe a Chinese family in whom a germline proline to serine substitution in position 639 resulted in familial thyrotoxicosis. This constitutively activating mutation has been previously described in a hyperfunctioning thyroid nodule. The three children in this family developed thyrotoxicosis during childhood; their father was diagnosed as thyrotoxic at the age of 38 yr. Two of the children and the father had mitral valve prolapse (MVP) associated with mitral regurgitation. There was a close temporal relationship between the onset of thyrotoxicosis and the diagnosis of mitral valvular disease in these patients. An increased prevalence of MVP has been reported in Graves' disease and chronic lymphocytic thyroiditis, but the pathophysiological mechanisms linking MVP and autoimmune thyroid disease are still not understood. This is the first report of an association between activating TSH-R mutations and MVP. We postulate that TSH-R activation may increase the clinical expression of MVP in genetically predisposed individuals. ( info)

2/284. The echocardiographic correlate of a systolic click appearing after open mitral commissurotomy.

    An echocardiographic correlate for a post-valvulotomy mid-systolic click is described. Simultaneous echocardiographic and phonocardiographic studies demonstrated that the click was temporally related to a sudden midsystolic posterior motion of part of the mitral valve apparatus. This temporal relationship suggests that the sudden change in position of portions of the mitral valve resulted in the loud midsystolic click. In our patient the sudden leaflet movement associated with the click was apparently a localized abnormality. ( info)

3/284. Asymptomatic left ventricular outflow tract obstruction after mitral valve replacement with leaflet preservation.

    It has been shown that inappropriate anterior mitral leaflet preservation during mitral valve replacement may cause left ventricular outflow tract (LVOT) obstruction, usually with dismal prognosis. In this report, we describe a patient with chronic asymptomatic LVOT obstruction after mitral valve replacement with leaflet preservation. ( info)

4/284. Ebstein's anomaly of the tricuspid valve associated with congenital deafmutism.

    Ebstein's anomaly is the most common congenital abnormality of the tricuspid valve and accounts for about 0.5% of cases of the congenital heart diseases. It has occasionally been associated with other syndromes but not with the congenital deafmutism. The first case of Ebstein's anomaly associated with the congenital deafmutism is reported. The patient remained asymptomatic until the age of 35 years and presented with palpitations and dizzy spells. This patient also manifested mitral valve prolapse and wolff-parkinson-white syndrome with right-sided accessory conduction pathway. ( info)

5/284. New-onset headache in an adolescent with MASS syndrome.

    A 15-year-old girl with the "MASS" phenotype (meeting several of the minor criteria for marfan syndrome) presents with a new onset low-pressure postural headache. Clinical features and magnetic resonance imaging suggested intracranial hypotension, which was confirmed with lumbar puncture. The pathophysiology and treatment of spontaneous intracranial hypotension are discussed. ( info)

6/284. The syndrome of nonejection click-late systolic murmur and mitral valve prolapse. A case report and review of the subject.

    The syndrome of nonejection click-late systolic murmur and mitral valve prolapse is reviewed. A patient with this syndrome is reported. Physical findings, important diagnostic studies, and possible complications are discussed. ( info)

7/284. Treatment of left atrial dissection after mitral repair: internal drainage.

    Two patients with intraoperative dissection of the entire left atrium after mitral valve repair are presented. Intraoperative transesophageal echocardiography detected left atrial dissection with formation of a large cavity compressing the left atrium. The false lumen was opened and widely connected to the right atrium to perform the decompression. This technique permits the runoff into the low pressure system in case of persisting hemorrhage from the unknown entry, and eliminates the risk of systemic embolization from the cavity. ( info)

8/284. Simultaneous repair of cardiovascular disorders and pectus deformity in a patient with Sprintzen-Goldberg syndrome: A case report.

    We report a 12-year-old girl with Sprintzen-Goldberg syndrome (SGS) who was complicated with annuloaortic ectasia with aortic regurgitation, mitral valve prolapse with mitral regurgitation, and a severe pectus excavatum. In this patient, aortic root replacement, mitral valve replacement, and sternal elevation were simultaneously performed, and a version of Ravitch's procedure that was technically modified to support the sternum was used for sternal elevation. This modified sternal elevation technique gave excellent operative exposure, and maintained chest wall stability after the operation. ( info)

9/284. Transformation of mitral valve prolapse to dynamic left ventricular outflow tract obstruction and back again in a patient with acute transient myocardial depression.

    We describe an unusual case of transient resolution of preexisting mitral valve (MV) prolapse during acute cardiac dysfunction and the development of dynamic left ventricular (LV) outflow tract obstruction. The patient presented with lightheadedness, chest pain, and compromised hemodynamic status. echocardiography revealed akinesis and deformation of the LV anterior wall and apex, hyperdynamic activity in the bases, anterior MV leaflet systolic anterior motion without prolapse, and a dynamic outflow tract gradient. Myocardial function fully recovered over 1 month. Repeat ultrasonography showed posterior MV leaflet prolapse and no anterior MV leaflet systolic anterior motion. Elongated MV leaflets may have contributed to dynamic outflow tract obstruction and life-threatening hemodynamic compromise during LV conformational change. ( info)

10/284. Ortner's syndrome in association with mitral valve prolapse.

    The case of an 83-year-old woman with a history of hypertension, valvular heart disease, atrial fibrillation, and cardiomegaly is presented. The patient also had progressive hoarseness of her voice and intermittent dysphagia. Ear, nose, and throat examination revealed left vocal cord paralysis. echocardiography revealed severely dilated left (LA) and right atria (RA), moderate mitral regurgitation, severe tricuspid regurgitation, and prolapse of both these valves. A review of literature of Ortner's or cardiovocal syndrome is presented. Ortner's syndrome due to mitral valve prolapse has not been reported previously. ( info)
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