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heart&#44; auditory system&#44; and extremities &#40;type II MRKH or MURCS association&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">1&#8211;3</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Herein&#44; we present percutaneous closure of an isolated secundum atrial septal defect &#40;ASD&#41; in a patient with MRKH syndrome&#46; According to the medical literature&#44; this therapeutic intervention has not previously been reported in this syndrome&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case report</span><p id="par0015" class="elsevierStylePara elsevierViewall">A 26-year-old female patient was referred to the cardiology department with complaints of increasing shortness of breath&#44; palpitations&#44; and effort dyspnea&#46; The patient had been diagnosed with MRKH syndrome eight years previously&#46; In order to determine the complete anatomy and associated anomalies&#44; abdominopelvic ultrasound and magnetic resonance imaging&#44; radiological vertebral assessment&#44; and temporal computed tomography imaging were performed&#46; These imaging modalities revealed that the location and size of the ovaries were normal&#44; but the uterus and the upper part of the vagina were absent &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Figure 1</a>&#41;&#46; There was no other imaging abnormality&#46; Audiometric examination was normal&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">During physical examination&#44; a fixed split second heart sound was heard&#46; Electrocardiography was normal&#44; but transthoracic echocardiography &#40;TTE&#41; showed a flattened interventricular septum&#44; dilated right heart chambers &#40;right ventricle 32 mm&#44; right atrium 44 mm&#215;42 mm&#41;&#44; increased systolic pulmonary arterial pressure &#40;50 mmHg&#41;&#44; and mild tricuspid regurgitation&#46; Due to suspicion of left-to-right shunting&#44; transesophageal echocardiography &#40;TEE&#41; was performed&#44; which revealed an ostium secundum ASD with a defect dimension of 17 mm &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Figure 2</a>&#44; <a class="elsevierStyleCrossRef" href="#sec0050">Video 1</a>&#41;&#46; No other congenital heart abnormality was identified&#46; The defect was deemed to be suitable for percutaneous transcatheter closure&#46; The procedure was performed under general anesthesia with TEE guidance&#46; A 26 mm ASD septal occluder device &#40;Lifetech Cera ASD Occluder&#44; Occlutech International AB&#44; Helsingborg&#44; Sweden&#41; was deployed under fluoroscopic and TEE guidance &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Figure 3</a>&#44; <a class="elsevierStyleCrossRef" href="#sec0050">Video 2</a>&#41;&#46; Cessation of flow across the interatrial septum was confirmed by TEE prior to final deployment of the device&#46; TTE was performed 24 hours after implantation and confirmed proper positioning of the device with no significant residual shunting&#46; Recovery was uneventful and the patient was discharged from the hospital under antiplatelet therapy&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0025" class="elsevierStylePara elsevierViewall">ASD&#44; especially ostium secundum type&#44; is a common congenital heart defect in adults&#46; It occurs as a result of defective development of the interatrial septum&#46; Most cases are isolated and sporadic&#44; but some are associated with genetic syndromes such as MRKH syndrome&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">4</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">MRKH syndrome is a clinical condition of M&#252;llerian agenesis&#46; While its etiology remains unclear&#44; there is some evidence concerning its embryogenic and genetic origin&#46;<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">1&#8211;3</span></a> It is reported to be associated with cardiovascular disorders&#46; Pittock et al&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">5</span></a> described cardiac anomalies in patients with MRKH syndrome&#44; including truncus arteriosus&#44; patent ductus arteriosus&#44; patent foramen ovale&#44; mitral valve prolapse&#44; and mild mitral regurgitation&#46; Vasquez et al&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">6</span></a> reported an adult woman with total anomalous pulmonary venous return&#44; ASD and MRKH syndrome&#44; while Kula et al&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">7</span></a> suggested an association between pulmonary stenosis and MRKH syndrome&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">Herein&#44; we present percutaneous closure of isolated ostium secundum ASD in a patient with MRKH syndrome&#46; According to the medical literature&#44; this therapeutic intervention has not previously been reported in this syndrome&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Ethical disclosures</span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Protection of human and animal subjects</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare that the procedures followed were in accordance with the regulations of the relevant clinical research ethics committee and with those of the Code of Ethics of the World Medical Association &#40;Declaration of Helsinki&#41;&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Confidentiality of data</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Right to privacy and informed consent</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors have obtained the written informed consent of the patients or subjects mentioned in the article&#46; The corresponding author is in possession of this document&#46;</p></span></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Conflicts of interest</span><p id="par0055" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare&#46;</p></span></span>"
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Case report
Percutaneous closure of isolated ostium secundum-type atrial septal defect in a patient with Mayer-Rokitansky-Küster-Hauser syndrome
Encerramento percutâneo da comunicação interauricular tipo ostium secundum isolado em doente com síndrome de Mayer-Rokitansky-Kuster-Hauser (MRKH)
Murat Akcaya,
Corresponding author
drmuratakcay@hotmail.com

Corresponding author.
, Okan Gulelb, Korhan Soylub, Murat Mericb, Muzaffer Elmalic
a Cardiology Clinic, Terme State Hospital, Samsun, Turkey
b Department of Cardiology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey
c Department of Radiology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey
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abdominopelvic ultrasound and magnetic resonance imaging&#44; radiological vertebral assessment&#44; and temporal computed tomography imaging were performed&#46; These imaging modalities revealed that the location and size of the ovaries were normal&#44; but the uterus and the upper part of the vagina were absent &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Figure 1</a>&#41;&#46; There was no other imaging abnormality&#46; Audiometric examination was normal&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">During physical examination&#44; a fixed split second heart sound was heard&#46; Electrocardiography was normal&#44; but transthoracic echocardiography &#40;TTE&#41; showed a flattened interventricular septum&#44; dilated right heart chambers &#40;right ventricle 32 mm&#44; right atrium 44 mm&#215;42 mm&#41;&#44; increased systolic pulmonary arterial pressure &#40;50 mmHg&#41;&#44; and mild tricuspid regurgitation&#46; Due to suspicion of left-to-right shunting&#44; transesophageal echocardiography &#40;TEE&#41; was performed&#44; which revealed an ostium secundum ASD with a defect dimension of 17 mm &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Figure 2</a>&#44; <a class="elsevierStyleCrossRef" href="#sec0050">Video 1</a>&#41;&#46; No other congenital heart abnormality was identified&#46; The defect was deemed to be suitable for percutaneous transcatheter closure&#46; The procedure was performed under general anesthesia with TEE guidance&#46; A 26 mm ASD septal occluder device &#40;Lifetech Cera ASD Occluder&#44; Occlutech International AB&#44; Helsingborg&#44; Sweden&#41; was deployed under fluoroscopic and TEE guidance &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Figure 3</a>&#44; <a class="elsevierStyleCrossRef" href="#sec0050">Video 2</a>&#41;&#46; Cessation of flow across the interatrial septum was confirmed by TEE prior to final deployment of the device&#46; TTE was performed 24 hours after implantation and confirmed proper positioning of the device with no significant residual shunting&#46; Recovery was uneventful and the patient was discharged from the hospital under antiplatelet therapy&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0025" class="elsevierStylePara elsevierViewall">ASD&#44; especially ostium secundum type&#44; is a common congenital heart defect in adults&#46; It occurs as a result of defective development of the interatrial septum&#46; Most cases are isolated and sporadic&#44; but some are associated with genetic syndromes such as MRKH syndrome&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">4</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">MRKH syndrome is a clinical condition of M&#252;llerian agenesis&#46; While its etiology remains unclear&#44; there is some evidence concerning its embryogenic and genetic origin&#46;<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">1&#8211;3</span></a> It is reported to be associated with cardiovascular disorders&#46; Pittock et al&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">5</span></a> described cardiac anomalies in patients with MRKH syndrome&#44; including truncus arteriosus&#44; patent ductus arteriosus&#44; patent foramen ovale&#44; mitral valve prolapse&#44; and mild mitral regurgitation&#46; Vasquez et al&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">6</span></a> reported an adult woman with total anomalous pulmonary venous return&#44; ASD and MRKH syndrome&#44; while Kula et al&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">7</span></a> suggested an association between pulmonary stenosis and MRKH syndrome&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">Herein&#44; we present percutaneous closure of isolated ostium secundum ASD in a patient with MRKH syndrome&#46; According to the medical literature&#44; this therapeutic intervention has not previously been reported in this syndrome&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Ethical disclosures</span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Protection of human and animal subjects</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare that the procedures followed were in accordance with the regulations of the relevant clinical research ethics committee and with those of the Code of Ethics of the World Medical Association &#40;Declaration of Helsinki&#41;&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Confidentiality of data</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Right to privacy and informed consent</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors have obtained the written informed consent of the patients or subjects mentioned in the article&#46; The corresponding author is in possession of this document&#46;</p></span></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Conflicts of interest</span><p id="par0055" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare&#46;</p></span></span>"
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        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Mayer-Rokitansky-K&#252;ster-Hauser &#40;MRKH&#41; syndrome is a rare congenital anomaly characterized by complete or partial aplasia of the uterus and the upper part of the vagina&#46; It is reported to be associated with cardiovascular disorders including atrial septal defect&#44; anomalous pulmonary venous return&#44; aortopulmonary window&#44; pulmonary valve stenosis&#44; mitral valve prolapse&#44; tetralogy of Fallot&#44; truncus arteriosus&#44; and patent ductus arteriosus&#46; Herein&#44; for the first time in the medical literature&#44; we present percutaneous closure of an isolated ostium secundum atrial septal defect in this syndrome&#46;</p></span>"
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        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A s&#237;ndrome de Mayer-Rokitansky-Kuster-Hauser &#40;MRKH&#41; &#233; uma anomalia cong&#233;nita rara&#44; caraterizada por uma aplasia completa ou parcial do &#250;tero e da parte superior da vagina&#46; Tem sido associado a problemas cardiovasculares&#44; incluindo comunica&#231;&#227;o interauricular&#44; retorno venoso pulmonar an&#243;malo&#44; janela aorto-pulmonar&#44; estenose valvular pulmonar&#44; prolapso da v&#225;lvula mitral&#44; tetralogia de Fallot&#44; tronco arterial e persist&#234;ncia do canal arterial&#46; Pela primeira vez na literatura m&#233;dica&#44; apresentamos um caso de encerramento percut&#226;neo de comunica&#231;&#227;o interauricular tipo <span class="elsevierStyleItalic">ostium secundum</span> isolado nesta s&#237;ndrome&#46;</p></span>"
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                      "titulo" => "The Mayer-Rokitansky-K&#252;ster-Hauser &#40;MRKH&#41; syndrome&#58; clinical description and genetics"
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                            0 => "K&#46; Morcel"
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                      "titulo" => "The Mayer-Rokitansky-K&#252;ster-Hauser syndrome &#40;congenital absence of uterus and vagina&#41; &#8211; phenotypic manifestations and genetic approaches"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
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                            0 => "D&#46; Guerrier"
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Article information
ISSN: 21742049
Original language: English
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2020 September 64 23 87
2020 August 24 4 28
2020 July 52 23 75
2020 June 53 6 59
2020 May 48 7 55
2020 April 45 15 60
2020 March 53 10 63
2020 February 97 40 137
2020 January 35 7 42
2019 December 35 6 41
2019 November 43 6 49
2019 October 34 5 39
2019 September 25 8 33
2019 August 38 9 47
2019 July 36 11 47
2019 June 29 6 35
2019 May 36 5 41
2019 April 19 19 38
2019 March 41 12 53
2019 February 32 7 39
2019 January 33 8 41
2018 December 52 12 64
2018 November 126 5 131
2018 October 209 11 220
2018 September 42 12 54
2018 August 31 6 37
2018 July 33 2 35
2018 June 43 4 47
2018 May 57 5 62
2018 April 48 7 55
2018 March 82 9 91
2018 February 28 9 37
2018 January 52 7 59
2017 December 63 7 70
2017 November 27 12 39
2017 October 26 6 32
2017 September 27 18 45
2017 August 26 7 33
2017 July 22 6 28
2017 June 36 18 54
2017 May 46 12 58
2017 April 22 2 24
2017 March 32 37 69
2017 February 46 37 83
2017 January 35 12 47
2016 December 35 24 59
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Revista Portuguesa de Cardiologia (English edition)
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