2023
DOI: 10.1111/echo.15532
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Williams‐Beuren syndrome associated with hammock mitral valve: First case report

Abstract: Williams‐Beuren syndrome (WBS) is a multisystem congenital disorder, whose cardiovascular defects are the leading cause of death. We present the case of a 38‐year‐old man with features of heart failure. The imaging studies showed a typical supravalvular aortic stenosis and a hammock mitral valve, this last, being a rare congenital disease. This is the first case reported of a hammock mitral valve in a patient with this chromosomopathy.

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“…Usually, HPMVL is associated with a compensatory myxomatoid elongated anterior leaflet. It must be distinguished from other pathologies that have certain particular characteristics, such as parachute MV 1 , 4 (characterized by unifocal attachment of the MV chordae to a single or fused papillary muscle), arcade valve 14 (thickened and short chordae tendineae, with reduction of the interchordal spaces and development of a fibromuscular band in severe cases, which can produce stenosis or MR), or the cleft mitral leaflet 1 , 4 (a division of the leaflets that looks like a slit-like hole on echo), and special attention should be given to differentiate it from Barlow's disease 4 , 13 (pronounced annular dilatation, bileaflet prolapse and/or billowing, hooding, and the presence of thick, spongy leaflets due to excessive myxomatous tissue proliferation with or without calcification).…”
Section: Discussionmentioning
confidence: 99%
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“…Usually, HPMVL is associated with a compensatory myxomatoid elongated anterior leaflet. It must be distinguished from other pathologies that have certain particular characteristics, such as parachute MV 1 , 4 (characterized by unifocal attachment of the MV chordae to a single or fused papillary muscle), arcade valve 14 (thickened and short chordae tendineae, with reduction of the interchordal spaces and development of a fibromuscular band in severe cases, which can produce stenosis or MR), or the cleft mitral leaflet 1 , 4 (a division of the leaflets that looks like a slit-like hole on echo), and special attention should be given to differentiate it from Barlow's disease 4 , 13 (pronounced annular dilatation, bileaflet prolapse and/or billowing, hooding, and the presence of thick, spongy leaflets due to excessive myxomatous tissue proliferation with or without calcification).…”
Section: Discussionmentioning
confidence: 99%
“…Congenital defects associated with HPMVL include the presence of BAV, atrial septal defects, congenital lung anomalies, and Williams-Beuren's syndrome. 6 , 14 Establishing the percentage of occurrence of each of these associated defects remains elusive because there have only been anecdotal reports of the concomitant occurrence of these anomalies. Our patient presented with a concurrent BAV, a condition that has only been reported in 3 cases.…”
Section: Discussionmentioning
confidence: 99%
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