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of cases&#44; it is associated with other congenital malformations&#44; particularly Shone&#39;s complex&#44; and&#47;or mitral valve anomalies&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2</span></a> Isolated occurrence&#44; first described by Chung et al&#46; in 1974&#44;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> is rare&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case report</span><p id="par0020" class="elsevierStylePara elsevierViewall">A 53-year-old man had a history of bilateral vision loss due to juvenile glaucoma&#44; intrinsic asthma&#44; and suspected pulmonary sarcoidosis &#40;under corticosteroid therapy&#41;&#46; He had been previously followed in cardiology consultations for &#8220;a murmur since childhood&#8221;&#44; and had been diagnosed with mild mitral stenosis based on a valve area of 1&#46;8 cm<span class="elsevierStyleSup">2</span> estimated by the pressure half-time method&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">In 2012&#44; he was admitted to the emergency department for worsening fatigue and dyspnea&#46; On physical examination&#44; he was dyspneic&#44; with mild hypoxemia at rest &#40;PO<span class="elsevierStyleInf">2</span> 60 mmHg&#41;&#44; and hemodynamically stable&#46; Cardiac auscultation revealed regular rhythm with a harsh mid-diastolic murmur&#44; particularly audible over the apex&#44; with presystolic accentuation&#44; and pulmonary auscultation revealed rales in the left lung base and diffuse wheezing&#59; there were no signs of right heart failure&#46; Diagnostic exams included&#58; electrocardiography showing sinus rhythm&#44; heart rate &#40;HR&#41; of 80 bpm&#44; and criteria for bi-atrial dilatation and partial right bundle branch block&#59; laboratory tests showing elevated inflammatory markers&#59; and chest X-ray showing increased cardiothoracic ratio and straightening of the left heart border&#44; bilateral hilar enlargement&#44; cephalization of the pulmonary vasculature and a reticulonodular&#47;micronodular interstitial pattern&#44; particularly in both lower pulmonary fields &#40;similar to previous exams&#41;&#46; The patient was admitted to the pneumology department with a diagnosis of respiratory infection&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Antibiotic therapy was begun but the clinical setting persisted&#44; and so transthoracic echocardiography &#40;TTE&#41; was performed&#44; which&#44; although limited by poor image quality&#44; revealed no left ventricular &#40;LV&#41; dilatation and good global and segmental systolic function&#59; mild left atrial &#40;LA&#41; dilatation &#40;area in apical 4-chamber view&#58; 22&#46;8 cm<span class="elsevierStyleSup">2</span>&#41;&#59; mitral valve leaflets that were difficult to visualize but with apparently normal opening &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Figure 1</a>&#41;&#59; a convergence zone on the atrial side of the mitral annulus plane that was difficult to visualize due to enhanced echogenicity&#59; transmitral flow with peak diastolic gradient of 41 mmHg and mean of 21 mmHg &#40;HR 104 bpm&#41;&#59; valve area of 1&#46;8 cm<span class="elsevierStyleSup">2</span> estimated by the pressure half-time method&#44; with no mitral regurgitation&#59; right ventricle&#47;right atrium &#40;RV&#47;RA&#41; systolic gradient of 117 mmHg&#44; excluding pulmonary stenosis &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Figure 2</a>&#41;&#59; and right chambers of normal dimensions and contractility&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0035" class="elsevierStylePara elsevierViewall">Given the presence of severe pulmonary hypertension&#44; thoracic computed tomography angiography was performed&#44; which detected dilatation of the pulmonary artery trunk and its main branches and excluded pulmonary thromboembolism&#59; calcification of the mitral annulus and aortic valve was observed&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Following optimization of therapy and consequent hemodynamic improvement&#44; repeat TTE &#40;at a HR of 85 bpm&#41; showed a reduction in mean LA&#47;LV gradient to 11 mmHg and in RV&#47;RA gradient to 56 mmHg&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">The discrepancy in the echocardiographic findings &#8211; a transvalvular gradient suggestive of severe obstruction of a valve with an estimated area &#62;1&#46;5 cm<span class="elsevierStyleSup">2</span> by the pressure half-time method and apparently normal leaflet opening &#8211; led to the hypothesis of supravalvular mitral ring or severe annular calcification&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">Transesophageal echocardiography &#40;TEE&#41;&#44; poorly tolerated by the patient and causing sinus tachycardia &#40;HR 115 bpm&#41;&#44; confirmed reasonable valve leaflet opening but showed an echogenic structure adjacent to the atrial side of the mitral annulus&#44; distal to the insertion of the left atrial appendage &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Figure 3</a>&#41;&#44; causing a high mean LA&#47;LV diastolic gradient &#40;39 mmHg&#41;&#46; The effective orifice area estimated by the proximal isovelocity surface area method was 0&#46;7 cm<span class="elsevierStyleSup">2</span>&#44; supporting the hypothesis of supravalvular mitral ring &#40;<a class="elsevierStyleCrossRef" href="#fig0020">Figure 4</a>&#41;&#46; No other congenital anomalies were identified&#46;</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><elsevierMultimedia ident="fig0020"></elsevierMultimedia><p id="par0055" class="elsevierStylePara elsevierViewall">Catheterization revealed severe pulmonary hypertension &#40;mean pulmonary artery pressure&#58; 46 mmHg&#41;&#44; high pulmonary capillary wedge pressure &#40;PCWP&#41; &#40;20 mmHg&#41; and an LA&#47;LV gradient &#40;based on PCWP&#41; of 18 mmHg&#46; Coronary angiography showed no coronary artery disease&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">Given the presence of severe mitral valve obstruction associated with heart failure and pulmonary hypertension&#44; the patient was referred for cardiac surgery&#46; The surgical approach adopted was left atriotomy&#44; which revealed a calcified structure attached to the mitral valve leaflets&#44; consistent with supravalvular mitral ring&#46; The ring was resected and since the valve could not be preserved&#44; this was also excised&#44; the posterior leaflet being preserved&#44; and a mechanical prosthesis was implanted&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">A year later&#44; the patient showed improved functional capacity and heart failure symptoms &#40;NYHA class I&#41;&#59; TTE revealed a normally functioning mitral prosthesis with a mean gradient of 3&#46;5 mmHg and RV&#47;RA gradient of 26 mmHg&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0070" class="elsevierStylePara elsevierViewall">Supravalvular mitral ring is a rare entity with few cases reported&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> It is usually associated with other congenital anomalies and is often diagnosed in childhood&#46; The case presented is thus unusual in that it occurred in isolation and was detected in an adult patient&#44; an even rarer combination that was first reported in 2008&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a></p><p id="par0075" class="elsevierStylePara elsevierViewall">The absence of other congenital malformations&#44; the poor image quality&#44; and concomitant chronic pulmonary disease &#40;that could have explained the patient&#39;s clinical setting&#41; may have delayed the diagnosis&#46; Although supramitral ring is a congenital defect&#44; turbulent flow is known to cause a progressive increase in the stiffness and&#47;or dimensions of the membrane&#44; resulting in more severe obstruction over the years&#44; leading to later onset of symptoms&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0080" class="elsevierStylePara elsevierViewall">Diagnosis of supravalvular mitral ring is challenging&#46; Although there is considerable variation in the composition of the ring and in its relationship to the mitral valve&#44; it usually presents as a thin membrane &#60;1 mm thick&#44; attached to the anterior mitral valve leaflet&#44;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;3</span></a> and is thus difficult to visualize&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a></p><p id="par0085" class="elsevierStylePara elsevierViewall">TTE leads to diagnosis in less than 50&#37; of cases&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> In a study by Sullivan et al&#46;&#44; the ring was visualized before surgery in only 45&#37; of the patients&#59; postoperative retrospective analysis of the echocardiograms yielded the diagnosis in 91&#37;&#44; but this required a detailed frame-by-frame examination&#44; which is impractical in clinical practice&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Despite this limitation&#44; TTE is essential in raising suspicion of the diagnosis&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> In the case presented&#44; the discrepancy between echocardiographic findings &#8211; turbulent flow causing a high transmitral gradient in a morphologically normal valve &#8211; alerted the authors to the need for further investigation&#46;</p><p id="par0090" class="elsevierStylePara elsevierViewall">TEE is the best diagnostic exam for detection of supravalvular mitral ring&#44;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;4</span></a> as it enables visualization of the ring and anchor points&#44; assessment of native valve competence and differential diagnosis&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0095" class="elsevierStylePara elsevierViewall">Cardiac angiography&#44; the preferred diagnostic technique when non-invasive exams were not generally available&#44;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> is not now considered advantageous for diagnostic clarification&#46;<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4&#44;5</span></a> Cardiac magnetic resonance imaging has failed to detect supravalvular mitral ring in the cases in which it was used&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0100" class="elsevierStylePara elsevierViewall">In our patient&#44; as in most reported cases&#44; diagnostic confirmation was obtained only during surgery&#44; although TEE had identified an anomalous structure adjacent to the mitral ring&#46; Three-dimensional echocardiography may in the future be useful for assessing these patients&#44; although there has been little mention of its use in the literature&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a></p><p id="par0105" class="elsevierStylePara elsevierViewall">When assessing a patient with suspected supravalvular mitral ring&#44; it is essential to consider differential diagnosis from the more common cor triatriatum&#44; which results from a failure of embryological development of the left pulmonary vein&#44;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> leading to the left atrium being divided into two chambers by a membrane of fibromuscular tissue proximal to the LA appendage and well separated from the mitral valve&#46; By contrast&#44; supravalvular mitral ring arises from a failure of the endocardial cushions to divide completely&#44;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">11</span></a> and is distal to the LA appendage&#44; this being the main distinguishing feature between the two diagnoses&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0110" class="elsevierStylePara elsevierViewall">With regard to treatment&#44; the first surgical repair of supravalvular mitral ring was described by Lynch et al&#46; in 1962&#44; in a series of 14 patients&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> In 2006&#44; Collison et al&#46; confirmed excellent long-term results&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Surgical repair of the mitral valve is not always possible due to the presence of adhesions and contiguity with the anterior leaflet&#44; and so valve replacement may be necessary as well as excision of the ring&#44;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> as in the case presented&#46; Factors determining a less favorable result are attachment of the membrane to the mitral valve&#44; anomalies of the subvalvular apparatus&#44; other congenital defects and pulmonary hypertension&#46;<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5&#44;6</span></a></p><p id="par0115" class="elsevierStylePara elsevierViewall">Unlike other forms of mitral stenosis&#44; in which balloon valvotomy is an acceptable alternative&#44; surgery appears to be the only option for supravalvular stenosis&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> In a study by Spevak et al&#46;&#44; of nine children with congenital mitral stenosis undergoing balloon angioplasty&#44; less favorable results were obtained when the obstruction was not purely valvular&#44; as it is with a supramitral ring&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">12</span></a></p><p id="par0120" class="elsevierStylePara elsevierViewall">Follow-up of these patients is essential&#44; given the risk of recurrence&#44; which was first described by Tulloh et al&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">13</span></a> In a study of 23 children undergoing surgical resection of supravalvular mitral stenosis&#44; four had recurrence of stenosis after 2&#8211;9 years&#46; Although our patient has only been followed for a year&#44; the outcome is satisfactory so far&#44; with marked clinical improvement and significant reduction in the RV&#47;RA gradient following removal of the obstruction&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conclusions</span><p id="par0125" class="elsevierStylePara elsevierViewall">The case presented draws attention to a rare entity&#44; for which the best method of diagnosis and treatment has yet to be established&#46; A high level of clinical suspicion is necessary when performing TTE&#44; and TEE is recommended whenever high transmitral gradients are observed&#46; Resection of the ring&#44; thus removing the obstruction&#44; gives excellent results in the long term&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Ethical disclosures</span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Protection of human and animal subjects</span><p id="par0130" class="elsevierStylePara elsevierViewall">The authors declare that no experiments were performed on humans or animals for this study&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Confidentiality of data</span><p id="par0135" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article&#46;</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Right to privacy and informed consent</span><p id="par0140" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article&#46;</p></span></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Conflicts of interest</span><p id="par0145" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare&#46;</p></span></span>"
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            0 => "Supravalvular ring"
            1 => "Supravalvular mitral ring"
            2 => "Mitral stenosis"
            3 => "Congenital mitral stenosis"
            4 => "Supravalvular mitral stenosis"
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            0 => "Anel supramitral"
            1 => "Anel mitral supravalvular"
            2 => "Estenose mitral"
            3 => "Estenose mitral cong&#233;nita"
            4 => "Estenose mitral supravalvular"
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        "resumen" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">The authors report the case of a 53-year-old man&#44; with a long-standing history of mild mitral stenosis&#44; admitted for worsening fatigue&#46; Transthoracic echocardiography &#40;limited by poor image quality&#41; showed mitral annular calcification&#44; leaflets that were difficult to visualize and an estimated mitral valve area of 1&#46;8 cm<span class="elsevierStyleSup">2</span> by the pressure half-time method&#46; However&#44; elevated mean transmitral and right ventricle&#47;right atrium gradients were identified &#40;39 and 117 mmHg&#44; respectively&#41;&#46; This puzzling discrepancy in the echocardiographic findings prompted investigation by transesophageal echocardiography&#44; which revealed an echogenic structure adjacent to the mitral annulus&#44; causing severe obstruction &#40;effective orifice area 0&#46;7 cm<span class="elsevierStyleSup">2</span>&#41;&#46; The suspicion of supravalvular mitral ring was confirmed during surgery&#46; Following ring resection and mitral valve replacement there was significant improvement in the patient&#39;s clinical condition and normalization of the left atrium&#47;left ventricle gradient&#46;</p><p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">Supravalvular mitral ring is an unusual cause of congenital mitral stenosis&#44; characterized by an abnormal ridge of connective tissue on the atrial side of the mitral valve&#44; which often obstructs mitral valve inflow&#46; Few cases have been reported&#44; most of them in children with concomitant congenital abnormalities&#46; Diagnosis of a supravalvular mitral ring is challenging&#44; since it is very difficult to visualize in most diagnostic tests&#46; It was the combination of clinical and various echocardiographic findings that led us to suspect this very rare condition&#44; enabling appropriate treatment&#44; with excellent long-term results&#46;</p>"
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        "resumen" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Os autores reportam o caso de um doente de 53 anos&#44; com diagn&#243;stico pr&#233;vio de estenose mitral ligeira&#44; admitido por agravamento do cansa&#231;o&#46; O ecocardiograma &#40;Eco&#41; transtor&#225;cico&#44; limitado pela janela ac&#250;stica&#44; mostrava v&#225;lvula mitral com ecogenicidade aumentada a n&#237;vel do anel&#44; deficiente observa&#231;&#227;o dos folhetos e &#225;rea valvular estimada de 1&#44;8 cm<span class="elsevierStyleSup">2</span> por tempo de hemipress&#227;o&#46; No entanto&#44; a identifica&#231;&#227;o de elevados gradientes transmitral m&#233;dio e ventr&#237;culo direito&#47;aur&#237;cula direita &#40;atingindo respetivamente 39 e 117 mmHg&#41; intrigou os autores&#46; No Eco transesof&#225;gico foi observada estrutura hiperecog&#233;nica sobre o anel mitral a condicionar obstru&#231;&#227;o grave &#40;&#225;rea do orif&#237;cio efetivo de 0&#44;7 cm<span class="elsevierStyleSup">2</span>&#41;&#44; o que levantou a suspeita de anel supramitral&#46; Esta foi confirmada durante a cirurgia&#46; Ap&#243;s a ressec&#231;&#227;o do anel e implanta&#231;&#227;o de pr&#243;tese mec&#226;nica&#44; verificou-se uma franca melhoria cl&#237;nica e normaliza&#231;&#227;o do gradiente aur&#237;cula esquerda &#40;AE&#41;&#47;ventr&#237;culo esquerdo &#40;VE&#41;&#46;</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">O anel supramitral &#233; uma causa invulgar de estenose mitral cong&#233;nita&#44; caracterizado pela presen&#231;a de uma membrana fibrosa adjacente &#224; face auricular da v&#225;lvula mitral&#46; Existem poucos casos reportados na literatura&#44; sendo a maioria descritos em idade pedi&#225;trica e em associa&#231;&#227;o a outras anomalias cong&#233;nitas&#46; O diagn&#243;stico &#233; desafiante&#44; dado que o anel raramente &#233; visualizado nos exames complementares&#46; Uma elevada suspeita cl&#237;nica e a integra&#231;&#227;o dos v&#225;rios achados ecocardiogr&#225;ficos s&#227;o aspetos fundamentais para a sua identifica&#231;&#227;o&#44; permitindo o tratamento adequado com bons resultados a longo prazo&#46;</p>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Almeida I&#44; Caetano F&#44; Trigo J&#44; et al&#46; Quando parece estenose mitral mas n&#227;o &#233; &#8211; implica&#231;&#245;es diagn&#243;sticas e terap&#234;uticas&#46; Rev Port Cardiol&#46; 2014&#59;33&#58;471&#46;</p>"
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          "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Transthoracic echocardiography in parasternal long-axis view showing morphology of the mitral valve&#44; with limited visualization of the leaflets due to poor image quality but with apparently normal opening&#46;</p>"
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          "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Transthoracic echocardiography&#58; peak transmitral gradient of 41 mmHg and mean of 21 mmHg&#44; and valve area of 1&#46;8 cm<span class="elsevierStyleSup">2</span> estimated by the pressure half-time method &#40;left&#41;&#59; right ventricle&#47;right atrium gradient of 117 mmHg &#40;right&#41;&#46;</p>"
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Case report
When what appears to be mitral stenosis is not: Diagnostic and therapeutic implications
Quando parece estenose mitral mas não é – implicações diagnósticas e terapêuticas
Inês Almeidaa,
Corresponding author
inesalm@gmail.com

Corresponding author.
, Francisca Caetanoa, Joana Trigoa, Paula Motaa, Maria do Carmo Cachuloa, Manuel Antunesb, António Leitão Marquesa
a Serviço de Cardiologia do Hospital Geral, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
b Serviço de Cirurgia Cardiotorácica, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
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of cases&#44; it is associated with other congenital malformations&#44; particularly Shone&#39;s complex&#44; and&#47;or mitral valve anomalies&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2</span></a> Isolated occurrence&#44; first described by Chung et al&#46; in 1974&#44;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> is rare&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case report</span><p id="par0020" class="elsevierStylePara elsevierViewall">A 53-year-old man had a history of bilateral vision loss due to juvenile glaucoma&#44; intrinsic asthma&#44; and suspected pulmonary sarcoidosis &#40;under corticosteroid therapy&#41;&#46; He had been previously followed in cardiology consultations for &#8220;a murmur since childhood&#8221;&#44; and had been diagnosed with mild mitral stenosis based on a valve area of 1&#46;8 cm<span class="elsevierStyleSup">2</span> estimated by the pressure half-time method&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">In 2012&#44; he was admitted to the emergency department for worsening fatigue and dyspnea&#46; On physical examination&#44; he was dyspneic&#44; with mild hypoxemia at rest &#40;PO<span class="elsevierStyleInf">2</span> 60 mmHg&#41;&#44; and hemodynamically stable&#46; Cardiac auscultation revealed regular rhythm with a harsh mid-diastolic murmur&#44; particularly audible over the apex&#44; with presystolic accentuation&#44; and pulmonary auscultation revealed rales in the left lung base and diffuse wheezing&#59; there were no signs of right heart failure&#46; Diagnostic exams included&#58; electrocardiography showing sinus rhythm&#44; heart rate &#40;HR&#41; of 80 bpm&#44; and criteria for bi-atrial dilatation and partial right bundle branch block&#59; laboratory tests showing elevated inflammatory markers&#59; and chest X-ray showing increased cardiothoracic ratio and straightening of the left heart border&#44; bilateral hilar enlargement&#44; cephalization of the pulmonary vasculature and a reticulonodular&#47;micronodular interstitial pattern&#44; particularly in both lower pulmonary fields &#40;similar to previous exams&#41;&#46; The patient was admitted to the pneumology department with a diagnosis of respiratory infection&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Antibiotic therapy was begun but the clinical setting persisted&#44; and so transthoracic echocardiography &#40;TTE&#41; was performed&#44; which&#44; although limited by poor image quality&#44; revealed no left ventricular &#40;LV&#41; dilatation and good global and segmental systolic function&#59; mild left atrial &#40;LA&#41; dilatation &#40;area in apical 4-chamber view&#58; 22&#46;8 cm<span class="elsevierStyleSup">2</span>&#41;&#59; mitral valve leaflets that were difficult to visualize but with apparently normal opening &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Figure 1</a>&#41;&#59; a convergence zone on the atrial side of the mitral annulus plane that was difficult to visualize due to enhanced echogenicity&#59; transmitral flow with peak diastolic gradient of 41 mmHg and mean of 21 mmHg &#40;HR 104 bpm&#41;&#59; valve area of 1&#46;8 cm<span class="elsevierStyleSup">2</span> estimated by the pressure half-time method&#44; with no mitral regurgitation&#59; right ventricle&#47;right atrium &#40;RV&#47;RA&#41; systolic gradient of 117 mmHg&#44; excluding pulmonary stenosis &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Figure 2</a>&#41;&#59; and right chambers of normal dimensions and contractility&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0035" class="elsevierStylePara elsevierViewall">Given the presence of severe pulmonary hypertension&#44; thoracic computed tomography angiography was performed&#44; which detected dilatation of the pulmonary artery trunk and its main branches and excluded pulmonary thromboembolism&#59; calcification of the mitral annulus and aortic valve was observed&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Following optimization of therapy and consequent hemodynamic improvement&#44; repeat TTE &#40;at a HR of 85 bpm&#41; showed a reduction in mean LA&#47;LV gradient to 11 mmHg and in RV&#47;RA gradient to 56 mmHg&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">The discrepancy in the echocardiographic findings &#8211; a transvalvular gradient suggestive of severe obstruction of a valve with an estimated area &#62;1&#46;5 cm<span class="elsevierStyleSup">2</span> by the pressure half-time method and apparently normal leaflet opening &#8211; led to the hypothesis of supravalvular mitral ring or severe annular calcification&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">Transesophageal echocardiography &#40;TEE&#41;&#44; poorly tolerated by the patient and causing sinus tachycardia &#40;HR 115 bpm&#41;&#44; confirmed reasonable valve leaflet opening but showed an echogenic structure adjacent to the atrial side of the mitral annulus&#44; distal to the insertion of the left atrial appendage &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Figure 3</a>&#41;&#44; causing a high mean LA&#47;LV diastolic gradient &#40;39 mmHg&#41;&#46; The effective orifice area estimated by the proximal isovelocity surface area method was 0&#46;7 cm<span class="elsevierStyleSup">2</span>&#44; supporting the hypothesis of supravalvular mitral ring &#40;<a class="elsevierStyleCrossRef" href="#fig0020">Figure 4</a>&#41;&#46; No other congenital anomalies were identified&#46;</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><elsevierMultimedia ident="fig0020"></elsevierMultimedia><p id="par0055" class="elsevierStylePara elsevierViewall">Catheterization revealed severe pulmonary hypertension &#40;mean pulmonary artery pressure&#58; 46 mmHg&#41;&#44; high pulmonary capillary wedge pressure &#40;PCWP&#41; &#40;20 mmHg&#41; and an LA&#47;LV gradient &#40;based on PCWP&#41; of 18 mmHg&#46; Coronary angiography showed no coronary artery disease&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">Given the presence of severe mitral valve obstruction associated with heart failure and pulmonary hypertension&#44; the patient was referred for cardiac surgery&#46; The surgical approach adopted was left atriotomy&#44; which revealed a calcified structure attached to the mitral valve leaflets&#44; consistent with supravalvular mitral ring&#46; The ring was resected and since the valve could not be preserved&#44; this was also excised&#44; the posterior leaflet being preserved&#44; and a mechanical prosthesis was implanted&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">A year later&#44; the patient showed improved functional capacity and heart failure symptoms &#40;NYHA class I&#41;&#59; TTE revealed a normally functioning mitral prosthesis with a mean gradient of 3&#46;5 mmHg and RV&#47;RA gradient of 26 mmHg&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0070" class="elsevierStylePara elsevierViewall">Supravalvular mitral ring is a rare entity with few cases reported&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> It is usually associated with other congenital anomalies and is often diagnosed in childhood&#46; The case presented is thus unusual in that it occurred in isolation and was detected in an adult patient&#44; an even rarer combination that was first reported in 2008&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a></p><p id="par0075" class="elsevierStylePara elsevierViewall">The absence of other congenital malformations&#44; the poor image quality&#44; and concomitant chronic pulmonary disease &#40;that could have explained the patient&#39;s clinical setting&#41; may have delayed the diagnosis&#46; Although supramitral ring is a congenital defect&#44; turbulent flow is known to cause a progressive increase in the stiffness and&#47;or dimensions of the membrane&#44; resulting in more severe obstruction over the years&#44; leading to later onset of symptoms&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0080" class="elsevierStylePara elsevierViewall">Diagnosis of supravalvular mitral ring is challenging&#46; Although there is considerable variation in the composition of the ring and in its relationship to the mitral valve&#44; it usually presents as a thin membrane &#60;1 mm thick&#44; attached to the anterior mitral valve leaflet&#44;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;3</span></a> and is thus difficult to visualize&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a></p><p id="par0085" class="elsevierStylePara elsevierViewall">TTE leads to diagnosis in less than 50&#37; of cases&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> In a study by Sullivan et al&#46;&#44; the ring was visualized before surgery in only 45&#37; of the patients&#59; postoperative retrospective analysis of the echocardiograms yielded the diagnosis in 91&#37;&#44; but this required a detailed frame-by-frame examination&#44; which is impractical in clinical practice&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Despite this limitation&#44; TTE is essential in raising suspicion of the diagnosis&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> In the case presented&#44; the discrepancy between echocardiographic findings &#8211; turbulent flow causing a high transmitral gradient in a morphologically normal valve &#8211; alerted the authors to the need for further investigation&#46;</p><p id="par0090" class="elsevierStylePara elsevierViewall">TEE is the best diagnostic exam for detection of supravalvular mitral ring&#44;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;4</span></a> as it enables visualization of the ring and anchor points&#44; assessment of native valve competence and differential diagnosis&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0095" class="elsevierStylePara elsevierViewall">Cardiac angiography&#44; the preferred diagnostic technique when non-invasive exams were not generally available&#44;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> is not now considered advantageous for diagnostic clarification&#46;<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4&#44;5</span></a> Cardiac magnetic resonance imaging has failed to detect supravalvular mitral ring in the cases in which it was used&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0100" class="elsevierStylePara elsevierViewall">In our patient&#44; as in most reported cases&#44; diagnostic confirmation was obtained only during surgery&#44; although TEE had identified an anomalous structure adjacent to the mitral ring&#46; Three-dimensional echocardiography may in the future be useful for assessing these patients&#44; although there has been little mention of its use in the literature&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a></p><p id="par0105" class="elsevierStylePara elsevierViewall">When assessing a patient with suspected supravalvular mitral ring&#44; it is essential to consider differential diagnosis from the more common cor triatriatum&#44; which results from a failure of embryological development of the left pulmonary vein&#44;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> leading to the left atrium being divided into two chambers by a membrane of fibromuscular tissue proximal to the LA appendage and well separated from the mitral valve&#46; By contrast&#44; supravalvular mitral ring arises from a failure of the endocardial cushions to divide completely&#44;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">11</span></a> and is distal to the LA appendage&#44; this being the main distinguishing feature between the two diagnoses&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0110" class="elsevierStylePara elsevierViewall">With regard to treatment&#44; the first surgical repair of supravalvular mitral ring was described by Lynch et al&#46; in 1962&#44; in a series of 14 patients&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> In 2006&#44; Collison et al&#46; confirmed excellent long-term results&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Surgical repair of the mitral valve is not always possible due to the presence of adhesions and contiguity with the anterior leaflet&#44; and so valve replacement may be necessary as well as excision of the ring&#44;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> as in the case presented&#46; Factors determining a less favorable result are attachment of the membrane to the mitral valve&#44; anomalies of the subvalvular apparatus&#44; other congenital defects and pulmonary hypertension&#46;<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5&#44;6</span></a></p><p id="par0115" class="elsevierStylePara elsevierViewall">Unlike other forms of mitral stenosis&#44; in which balloon valvotomy is an acceptable alternative&#44; surgery appears to be the only option for supravalvular stenosis&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> In a study by Spevak et al&#46;&#44; of nine children with congenital mitral stenosis undergoing balloon angioplasty&#44; less favorable results were obtained when the obstruction was not purely valvular&#44; as it is with a supramitral ring&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">12</span></a></p><p id="par0120" class="elsevierStylePara elsevierViewall">Follow-up of these patients is essential&#44; given the risk of recurrence&#44; which was first described by Tulloh et al&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">13</span></a> In a study of 23 children undergoing surgical resection of supravalvular mitral stenosis&#44; four had recurrence of stenosis after 2&#8211;9 years&#46; Although our patient has only been followed for a year&#44; the outcome is satisfactory so far&#44; with marked clinical improvement and significant reduction in the RV&#47;RA gradient following removal of the obstruction&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conclusions</span><p id="par0125" class="elsevierStylePara elsevierViewall">The case presented draws attention to a rare entity&#44; for which the best method of diagnosis and treatment has yet to be established&#46; A high level of clinical suspicion is necessary when performing TTE&#44; and TEE is recommended whenever high transmitral gradients are observed&#46; Resection of the ring&#44; thus removing the obstruction&#44; gives excellent results in the long term&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Ethical disclosures</span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Protection of human and animal subjects</span><p id="par0130" class="elsevierStylePara elsevierViewall">The authors declare that no experiments were performed on humans or animals for this study&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Confidentiality of data</span><p id="par0135" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article&#46;</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Right to privacy and informed consent</span><p id="par0140" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article&#46;</p></span></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Conflicts of interest</span><p id="par0145" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare&#46;</p></span></span>"
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              "titulo" => "Protection of human and animal subjects"
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    "fechaRecibido" => "2013-12-22"
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            0 => "Supravalvular ring"
            1 => "Supravalvular mitral ring"
            2 => "Mitral stenosis"
            3 => "Congenital mitral stenosis"
            4 => "Supravalvular mitral stenosis"
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            0 => "Anel supramitral"
            1 => "Anel mitral supravalvular"
            2 => "Estenose mitral"
            3 => "Estenose mitral cong&#233;nita"
            4 => "Estenose mitral supravalvular"
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        "resumen" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">The authors report the case of a 53-year-old man&#44; with a long-standing history of mild mitral stenosis&#44; admitted for worsening fatigue&#46; Transthoracic echocardiography &#40;limited by poor image quality&#41; showed mitral annular calcification&#44; leaflets that were difficult to visualize and an estimated mitral valve area of 1&#46;8 cm<span class="elsevierStyleSup">2</span> by the pressure half-time method&#46; However&#44; elevated mean transmitral and right ventricle&#47;right atrium gradients were identified &#40;39 and 117 mmHg&#44; respectively&#41;&#46; This puzzling discrepancy in the echocardiographic findings prompted investigation by transesophageal echocardiography&#44; which revealed an echogenic structure adjacent to the mitral annulus&#44; causing severe obstruction &#40;effective orifice area 0&#46;7 cm<span class="elsevierStyleSup">2</span>&#41;&#46; The suspicion of supravalvular mitral ring was confirmed during surgery&#46; Following ring resection and mitral valve replacement there was significant improvement in the patient&#39;s clinical condition and normalization of the left atrium&#47;left ventricle gradient&#46;</p><p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">Supravalvular mitral ring is an unusual cause of congenital mitral stenosis&#44; characterized by an abnormal ridge of connective tissue on the atrial side of the mitral valve&#44; which often obstructs mitral valve inflow&#46; Few cases have been reported&#44; most of them in children with concomitant congenital abnormalities&#46; Diagnosis of a supravalvular mitral ring is challenging&#44; since it is very difficult to visualize in most diagnostic tests&#46; It was the combination of clinical and various echocardiographic findings that led us to suspect this very rare condition&#44; enabling appropriate treatment&#44; with excellent long-term results&#46;</p>"
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        "resumen" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Os autores reportam o caso de um doente de 53 anos&#44; com diagn&#243;stico pr&#233;vio de estenose mitral ligeira&#44; admitido por agravamento do cansa&#231;o&#46; O ecocardiograma &#40;Eco&#41; transtor&#225;cico&#44; limitado pela janela ac&#250;stica&#44; mostrava v&#225;lvula mitral com ecogenicidade aumentada a n&#237;vel do anel&#44; deficiente observa&#231;&#227;o dos folhetos e &#225;rea valvular estimada de 1&#44;8 cm<span class="elsevierStyleSup">2</span> por tempo de hemipress&#227;o&#46; No entanto&#44; a identifica&#231;&#227;o de elevados gradientes transmitral m&#233;dio e ventr&#237;culo direito&#47;aur&#237;cula direita &#40;atingindo respetivamente 39 e 117 mmHg&#41; intrigou os autores&#46; No Eco transesof&#225;gico foi observada estrutura hiperecog&#233;nica sobre o anel mitral a condicionar obstru&#231;&#227;o grave &#40;&#225;rea do orif&#237;cio efetivo de 0&#44;7 cm<span class="elsevierStyleSup">2</span>&#41;&#44; o que levantou a suspeita de anel supramitral&#46; Esta foi confirmada durante a cirurgia&#46; Ap&#243;s a ressec&#231;&#227;o do anel e implanta&#231;&#227;o de pr&#243;tese mec&#226;nica&#44; verificou-se uma franca melhoria cl&#237;nica e normaliza&#231;&#227;o do gradiente aur&#237;cula esquerda &#40;AE&#41;&#47;ventr&#237;culo esquerdo &#40;VE&#41;&#46;</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">O anel supramitral &#233; uma causa invulgar de estenose mitral cong&#233;nita&#44; caracterizado pela presen&#231;a de uma membrana fibrosa adjacente &#224; face auricular da v&#225;lvula mitral&#46; Existem poucos casos reportados na literatura&#44; sendo a maioria descritos em idade pedi&#225;trica e em associa&#231;&#227;o a outras anomalias cong&#233;nitas&#46; O diagn&#243;stico &#233; desafiante&#44; dado que o anel raramente &#233; visualizado nos exames complementares&#46; Uma elevada suspeita cl&#237;nica e a integra&#231;&#227;o dos v&#225;rios achados ecocardiogr&#225;ficos s&#227;o aspetos fundamentais para a sua identifica&#231;&#227;o&#44; permitindo o tratamento adequado com bons resultados a longo prazo&#46;</p>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Almeida I&#44; Caetano F&#44; Trigo J&#44; et al&#46; Quando parece estenose mitral mas n&#227;o &#233; &#8211; implica&#231;&#245;es diagn&#243;sticas e terap&#234;uticas&#46; Rev Port Cardiol&#46; 2014&#59;33&#58;471&#46;</p>"
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          "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Transthoracic echocardiography in parasternal long-axis view showing morphology of the mitral valve&#44; with limited visualization of the leaflets due to poor image quality but with apparently normal opening&#46;</p>"
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          "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Transthoracic echocardiography&#58; peak transmitral gradient of 41 mmHg and mean of 21 mmHg&#44; and valve area of 1&#46;8 cm<span class="elsevierStyleSup">2</span> estimated by the pressure half-time method &#40;left&#41;&#59; right ventricle&#47;right atrium gradient of 117 mmHg &#40;right&#41;&#46;</p>"
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          "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Transesophageal echocardiography &#40;121&#176;&#41; showing morphology of the mitral valve in diastole &#40;left&#41; and systole &#40;right&#41;&#59; good opening of the posterior &#40;arrow A&#41; and anterior &#40;arrow B&#41; leaflets can be seen&#44; together with an echogenic structure on the atrial side of the mitral annulus &#40;green arrow&#41;&#46;</p>"
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Revista Portuguesa de Cardiologia (English edition)
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