Case report
Marfan syndrome with ascending aortic aneurysm: Value of cardiac computed tomography
Síndrome de Marfan com aneurisma da aorta ascendente – importância da angioTC cardíaca
Pedro Jerónimo Sousaa,
, Pedro Araújo Gonçalvesc,d, Sérgio Boshoffb, Hugo Marquesc, Salomé Carvalhoa, João Moradas Ferreirab, Miguel Mota Carmod, Ana Aleixod, José Pedro Nevesb, Miguel Mendesa
Autor para correspondência
a Serviço de Cardiologia, Hospital de Santa Cruz – Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal
b Cirurgia Cardio-Torácica, Hospital de Santa Cruz – Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal
c Centro de Imagiologia, Hospital da Luz, Lisboa, Portugal
d CEDOC – Centro de Estudos de doenças Crónicas – FCM-UNL, Lisboa, Portugal
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Lisboa, Portugal" "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "pt" => array:1 [ "titulo" => "Síndrome de Marfan com aneurisma da aorta ascendente – importância da angioTC cardíaca" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1990 "Ancho" => 3155 "Tamanyo" => 375602 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Cardiac computed tomography: multiplanar reconstructions ruling out significant coronary artery disease. LAD: left anterior descending artery; LCX: left circumflex artery; OM: obtuse marginal artery; RCA: right coronary artery.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Case report</span><p id="par0005" class="elsevierStylePara elsevierViewall">We report the case of a 40-year-old man with no known cardiovascular risk factors who was diagnosed with Marfan syndrome at the age of 32. His medical history included gastroesophageal reflux syndrome and previous ophthalmic surgery for lens dislocation and orthopedic surgery on the tibial-tarsal joints. He was being medicated with bisoprolol and pantoprazole.</p><p id="par0010" class="elsevierStylePara elsevierViewall">For the previous six months he had presented worsening exercise dyspnea and had marked limitation in activity due to symptoms (NYHA class II–III).</p><p id="par0015" class="elsevierStylePara elsevierViewall">The echocardiogram showed severe aortic valve regurgitation secondary to significant aortic root dilatation (64 mm diameter at the Valsalva sinus) and left ventricular dilatation, but with normal systolic function.</p><p id="par0020" class="elsevierStylePara elsevierViewall">To exclude coronary artery disease and simultaneously to evaluate the rest of the thoracic aorta, cardiac computed tomography (CT) was performed (including the thoracic aorta). This exam ruled out coronary artery disease (<a class="elsevierStyleCrossRef" href="#fig0005">Figure 1</a>) and confirmed the presence of significant aortic root dilatation (70 mm), the rest of the aorta being normal (<a class="elsevierStyleCrossRef" href="#fig0010">Figure 2</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">The patient was referred for surgery, with no need for invasive catheterization. He underwent a Bentall procedure with implantation of an aortic conduit and a prosthetic aortic valve (29 mm St. Jude). There were no complications after surgery, the echocardiogram showing the prosthetic aortic valve with normal motion and the conduit functioning correctly. The patient was discharged six days later and warfarin was added to his medication.</p><p id="par0030" class="elsevierStylePara elsevierViewall">At 6-month follow-up the patient was asymptomatic and free from cardiovascular events.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Discussion</span><p id="par0035" class="elsevierStylePara elsevierViewall">Marfan syndrome is the most common inherited multisystemic disorder of connective tissue, with a reported incidence of 2-3 per 10<span class="elsevierStyleHsp" style=""></span>000 population, without gender, racial, or ethnic predilection.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Its cardiovascular features were first outlined by McKusick in 1955<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a>; according to the current diagnostic criteria major cardiovascular manifestations include dilatation of the ascending aorta, with or without dissection.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">In the presence of ascending aorta dilatation, prophylactic surgery is recommended when the diameter of the ascending aorta at the aortic sinuses reaches 4.5 cm, or in some cases even less (when there is a family history of aortic dissection, in the presence of rapid aortic dilatation or severe aortic valve regurgitation, or when a valve-sparing operation is possible).<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,4</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">In the case reported, the presence of severe aortic root dilatation (>60 mm) with associated aortic valve regurgitation was a clear indication for surgery.</p><p id="par0050" class="elsevierStylePara elsevierViewall">Although the patient had no angina, obstructive coronary artery disease was ruled out prior to aortic surgery. This evaluation should be performed in asymptomatic male patients over the age of 40 or postmenopausal women, and is also indicated for patients with previous coronary artery disease, symptoms of left ventricular dysfunction, presumed ischemic mitral regurgitation or one or more cardiovascular risk factor.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Traditionally, the study of coronary artery anatomy is performed through invasive angiography. However, this can also be safely done with cardiac CT<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5,6</span></a> taking advantage of the high negative predictive value of this exam<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a>; this is one indication for which cardiac CT can replace invasive angiography.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">This approach can be applied to a high percentage of patients when study of coronary artery anatomy is indicated prior to valvular or aortic surgery, as it is more convenient and less invasive than invasive coronary angiography. Furthermore, some patient subsets may derive greater benefit from this approach, when there is higher iatrogenic potential (such as in the presence of aortic dissection or aortic valve thrombus/vegetations) or when coronary catheterization would be difficult (such as in the presence of aortic root dilatation or anomalous coronary artery origin). In these cases, cardiac CT, avoiding the need for potential prolonged invasive cardiac catheterization, reduces not only radiation and contrast doses, but also the risk of complications. Among the latter, aortic dissection has been described as a rare (0.04%) but serious complication of cardiac catheterization and was found to be associated with the use of non-conventional catheters.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">The risk of contrast-induced nephropathy should be weighed when coronary angiography is considered. Since there are no differences in the contrast dose used in coronary angiography performed invasively or by cardiac CT,<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> this risk should be similar with both techniques.</p><p id="par0070" class="elsevierStylePara elsevierViewall">In the case reported, there were two risk factors for complications with invasive coronary angiography: the presence of aortic root dilatation and severe aortic valve regurgitation. This favored the choice of cardiac CT to study the cardiac anatomy, which was safe, ruled out coronary artery disease and simultaneously provided detailed anatomy of the thoracic aorta.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Ethical disclosures</span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Protection of human and animal subjects</span><p id="par0075" class="elsevierStylePara elsevierViewall">The authors declare that no experiments were performed on humans or animals for this study.</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Confidentiality of data</span><p id="par0095" class="elsevierStylePara elsevierViewall">The authors declare that they have followed the protocols of their work center on the publication of patient data and that all the patients included in the study received sufficient information and gave their written informed consent to participate in the study.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Right to privacy and informed consent</span><p id="par0100" class="elsevierStylePara elsevierViewall">The authors have obtained the written informed consent of the patients or subjects mentioned in the article. The corresponding author is in possession of this document.</p></span></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Conflicts of interest</span><p id="par0090" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:2 [ "identificador" => "xres250294" "titulo" => "Abstract" ] 1 => array:2 [ "identificador" => "xpalclavsec237862" "titulo" => "Keywords" ] 2 => array:2 [ "identificador" => "xres250295" "titulo" => "Resumo" ] 3 => array:2 [ "identificador" => "xpalclavsec237861" "titulo" => "Palavras-chave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Case report" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Discussion" ] 6 => array:3 [ "identificador" => "sec0015" "titulo" => "Ethical disclosures" "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0020" "titulo" => "Protection of human and animal subjects" ] 1 => array:2 [ "identificador" => "sec0025" "titulo" => "Confidentiality of data" ] 2 => array:2 [ "identificador" => "sec0030" "titulo" => "Right to privacy and informed consent" ] ] ] 7 => array:2 [ "identificador" => "sec0035" "titulo" => "Conflicts of interest" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2012-01-31" "fechaAceptado" => "2012-05-02" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec237862" "palabras" => array:3 [ 0 => "Cardiac CT" 1 => "Marfan syndrome" 2 => "Aortic aneurysm" ] ] ] "pt" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palavras-chave" "identificador" => "xpalclavsec237861" "palabras" => array:3 [ 0 => "AngioTC cardíaca" 1 => "Síndrome de Marfan" 2 => "Aneurisma da aorta" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">We report the case of a 40-year-old man with known Marfan syndrome who presented with severe aortic valve regurgitation secondary to significant aortic root dilatation. To rule out coronary artery disease and to evaluate the rest of the thoracic aorta before surgery, cardiac computed tomography (CT) was performed. A brief review of the literature shows how cardiac CT can, in selected cases, rule out coronary artery disease before non-coronary cardiothoracic surgery.</p>" ] "pt" => array:2 [ "titulo" => "Resumo" "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Descrevemos o caso de um doente de 40 anos de idade com Síndrome de Marfan, que apresenta regurgitação valvular aórtica grave, secundária a dilatação severa da raiz aórtica. Para excluir a presença de doença coronária e estudar os restantes segmentos aórticos antes da cirurgia, foi realizada uma angioTC cardíaca.Uma breve revisão da literatura demonstra como, em determinados contextos, a angioTC cardíaca pode ter vantagens na exclusão de doença coronária antes de cirurgia cardio-torácica não coronária.</p>" ] ] "multimedia" => array:2 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1990 "Ancho" => 3155 "Tamanyo" => 375602 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Cardiac computed tomography: multiplanar reconstructions ruling out significant coronary artery disease. LAD: left anterior descending artery; LCX: left circumflex artery; OM: obtuse marginal artery; RCA: right coronary artery.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1004 "Ancho" => 1498 "Tamanyo" => 258656 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Aortic root dilatation seen in cardiac computed tomography volume-rendered image (A) and in intraoperative photograph (B).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:9 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Marfan syndrome-diagnosis and management" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "N.M. 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| Ano/Mês | Html | Total | |
|---|---|---|---|
| 2024 Novembro | 10 | 7 | 17 |
| 2024 Outubro | 65 | 39 | 104 |
| 2024 Setembro | 65 | 23 | 88 |
| 2024 Agosto | 58 | 32 | 90 |
| 2024 Julho | 45 | 36 | 81 |
| 2024 Junho | 36 | 27 | 63 |
| 2024 Maio | 50 | 32 | 82 |
| 2024 Abril | 46 | 41 | 87 |
| 2024 Maro | 34 | 32 | 66 |
| 2024 Fevereiro | 38 | 22 | 60 |
| 2024 Janeiro | 26 | 26 | 52 |
| 2023 Dezembro | 30 | 39 | 69 |
| 2023 Novembro | 69 | 42 | 111 |
| 2023 Outubro | 74 | 15 | 89 |
| 2023 Setembro | 44 | 29 | 73 |
| 2023 Agosto | 38 | 23 | 61 |
| 2023 Julho | 24 | 19 | 43 |
| 2023 Junho | 32 | 16 | 48 |
| 2023 Maio | 38 | 31 | 69 |
| 2023 Abril | 33 | 6 | 39 |
| 2023 Maro | 40 | 22 | 62 |
| 2023 Fevereiro | 31 | 27 | 58 |
| 2023 Janeiro | 33 | 15 | 48 |
| 2022 Dezembro | 45 | 31 | 76 |
| 2022 Novembro | 45 | 30 | 75 |
| 2022 Outubro | 35 | 23 | 58 |
| 2022 Setembro | 29 | 41 | 70 |
| 2022 Agosto | 41 | 30 | 71 |
| 2022 Julho | 39 | 38 | 77 |
| 2022 Junho | 17 | 24 | 41 |
| 2022 Maio | 22 | 26 | 48 |
| 2022 Abril | 28 | 35 | 63 |
| 2022 Maro | 19 | 35 | 54 |
| 2022 Fevereiro | 18 | 14 | 32 |
| 2022 Janeiro | 26 | 18 | 44 |
| 2021 Dezembro | 18 | 32 | 50 |
| 2021 Novembro | 47 | 38 | 85 |
| 2021 Outubro | 38 | 36 | 74 |
| 2021 Setembro | 24 | 33 | 57 |
| 2021 Agosto | 38 | 29 | 67 |
| 2021 Julho | 28 | 23 | 51 |
| 2021 Junho | 21 | 19 | 40 |
| 2021 Maio | 27 | 27 | 54 |
| 2021 Abril | 38 | 37 | 75 |
| 2021 Maro | 61 | 14 | 75 |
| 2021 Fevereiro | 66 | 24 | 90 |
| 2021 Janeiro | 40 | 13 | 53 |
| 2020 Dezembro | 39 | 10 | 49 |
| 2020 Novembro | 39 | 11 | 50 |
| 2020 Outubro | 23 | 13 | 36 |
| 2020 Setembro | 43 | 8 | 51 |
| 2020 Agosto | 19 | 11 | 30 |
| 2020 Julho | 41 | 7 | 48 |
| 2020 Junho | 40 | 7 | 47 |
| 2020 Maio | 42 | 4 | 46 |
| 2020 Abril | 59 | 12 | 71 |
| 2020 Maro | 32 | 8 | 40 |
| 2020 Fevereiro | 46 | 29 | 75 |
| 2020 Janeiro | 29 | 15 | 44 |
| 2019 Dezembro | 40 | 24 | 64 |
| 2019 Novembro | 34 | 6 | 40 |
| 2019 Outubro | 30 | 8 | 38 |
| 2019 Setembro | 29 | 14 | 43 |
| 2019 Agosto | 28 | 2 | 30 |
| 2019 Julho | 42 | 15 | 57 |
| 2019 Junho | 33 | 15 | 48 |
| 2019 Maio | 44 | 23 | 67 |
| 2019 Abril | 29 | 32 | 61 |
| 2019 Maro | 32 | 23 | 55 |
| 2019 Fevereiro | 35 | 23 | 58 |
| 2019 Janeiro | 17 | 4 | 21 |
| 2018 Dezembro | 41 | 11 | 52 |
| 2018 Novembro | 102 | 7 | 109 |
| 2018 Outubro | 206 | 30 | 236 |
| 2018 Setembro | 85 | 17 | 102 |
| 2018 Agosto | 65 | 15 | 80 |
| 2018 Julho | 68 | 13 | 81 |
| 2018 Junho | 87 | 4 | 91 |
| 2018 Maio | 130 | 10 | 140 |
| 2018 Abril | 132 | 10 | 142 |
| 2018 Maro | 140 | 10 | 150 |
| 2018 Fevereiro | 96 | 8 | 104 |
| 2018 Janeiro | 126 | 4 | 130 |
| 2017 Dezembro | 127 | 8 | 135 |
| 2017 Novembro | 72 | 6 | 78 |
| 2017 Outubro | 59 | 9 | 68 |
| 2017 Setembro | 43 | 7 | 50 |
| 2017 Agosto | 52 | 8 | 60 |
| 2017 Julho | 41 | 11 | 52 |
| 2017 Junho | 62 | 14 | 76 |
| 2017 Maio | 77 | 17 | 94 |
| 2017 Abril | 52 | 8 | 60 |
| 2017 Maro | 50 | 9 | 59 |
| 2017 Fevereiro | 78 | 7 | 85 |
| 2017 Janeiro | 35 | 7 | 42 |
| 2016 Dezembro | 29 | 12 | 41 |
| 2016 Novembro | 26 | 5 | 31 |
| 2016 Outubro | 56 | 15 | 71 |
| 2016 Setembro | 45 | 14 | 59 |
| 2016 Agosto | 25 | 7 | 32 |
| 2016 Julho | 10 | 3 | 13 |
| 2016 Junho | 3 | 5 | 8 |
| 2016 Maio | 17 | 5 | 22 |
| 2016 Abril | 62 | 3 | 65 |
| 2016 Maro | 90 | 11 | 101 |
| 2016 Fevereiro | 109 | 24 | 133 |
| 2016 Janeiro | 93 | 15 | 108 |
| 2015 Dezembro | 90 | 11 | 101 |
| 2015 Novembro | 88 | 10 | 98 |
| 2015 Outubro | 91 | 13 | 104 |
| 2015 Setembro | 104 | 13 | 117 |
| 2015 Agosto | 101 | 18 | 119 |
| 2015 Julho | 142 | 6 | 148 |
| 2015 Junho | 77 | 2 | 79 |
| 2015 Maio | 96 | 8 | 104 |
| 2015 Abril | 80 | 10 | 90 |
| 2015 Maro | 91 | 5 | 96 |
| 2015 Fevereiro | 74 | 4 | 78 |
| 2015 Janeiro | 69 | 9 | 78 |
| 2014 Dezembro | 75 | 8 | 83 |
| 2014 Novembro | 77 | 12 | 89 |
| 2014 Outubro | 92 | 12 | 104 |
| 2014 Setembro | 113 | 21 | 134 |
| 2014 Agosto | 97 | 9 | 106 |
| 2014 Julho | 98 | 15 | 113 |
| 2014 Junho | 87 | 5 | 92 |
| 2014 Maio | 92 | 9 | 101 |
| 2014 Abril | 73 | 11 | 84 |
| 2014 Maro | 150 | 18 | 168 |
| 2014 Fevereiro | 127 | 11 | 138 |
| 2014 Janeiro | 134 | 18 | 152 |
| 2013 Dezembro | 113 | 14 | 127 |
| 2013 Novembro | 122 | 26 | 148 |
| 2013 Outubro | 106 | 17 | 123 |
| 2013 Setembro | 95 | 22 | 117 |
| 2013 Agosto | 104 | 16 | 120 |
| 2013 Julho | 585 | 23 | 608 |
| 2013 Junho | 189 | 29 | 218 |
| 2013 Maio | 99 | 24 | 123 |
| 2013 Abril | 101 | 43 | 144 |
| 2013 Maro | 106 | 28 | 134 |
| 2013 Fevereiro | 92 | 34 | 126 |
| 2013 Janeiro | 45 | 33 | 78 |
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