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<front>
<journal-meta>
<journal-id journal-id-type="publisher-id">abcic</journal-id>
<journal-title-group>
<journal-title>ABC Imagem Cardiovascular</journal-title>
<abbrev-journal-title abbrev-type="publisher">ABC Imagem Cardiovasc.</abbrev-journal-title>
</journal-title-group>
<issn pub-type="epub">2675-312X</issn>
<issn pub-type="ppub">2318-8219</issn>
<publisher>
<publisher-name>Departamento de Imagem Cardiovascular da Sociedade Brasileira de Cardiolodia (DIC/SBC)</publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id pub-id-type="doi">10.36660/abcimg.20250014i</article-id>
<article-id pub-id-type="other">abcimg.20250014i</article-id>
<article-categories>
<subj-group subj-group-type="heading">
<subject>Case Report</subject>
</subj-group>
</article-categories>
<title-group>
<article-title>Challenges and Implications of Uncorrected Atrioventricular Septal Defect in Adults: A Complex Case Report</article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<contrib-id contrib-id-type="orcid">0009-0007-2101-9367</contrib-id>
<name><surname>Cunha</surname><given-names>Saulo Rodrigo</given-names></name>
<role>Conception and design of the research</role>
<role>acquisition of data</role>
<role>analysis and interpretation of the data</role>
<role>writing of the manuscript</role>
<xref ref-type="aff" rid="aff1"><sup>1</sup></xref>
<xref ref-type="corresp" rid="c1"/>
</contrib>
<contrib contrib-type="author">
<name><surname>Minotto</surname><given-names>Rafael Felipe</given-names></name>
<role>acquisition of data</role>
<role>analysis and interpretation of the data</role>
<xref ref-type="aff" rid="aff1"><sup>1</sup></xref>
</contrib>
<contrib contrib-type="author">
<contrib-id contrib-id-type="orcid">0009-0004-1636-608X</contrib-id>
<name><surname>Pandolfo</surname><given-names>Fernanda</given-names></name>
<role>critical revision of the manuscript for intellectual content</role>
<role>Conception and design of the research</role>
<role>analysis and interpretation of the data</role>
<xref ref-type="aff" rid="aff1"><sup>1</sup></xref>
</contrib>
<contrib contrib-type="author">
<contrib-id contrib-id-type="orcid">0000-0001-8622-8636</contrib-id>
<name><surname>Barros</surname><given-names>Fernando Colares</given-names></name>
<role>Conception and design of the research</role>
<role>acquisition of data</role>
<role>analysis and interpretation of the data</role>
<xref ref-type="aff" rid="aff1"><sup>1</sup></xref>
</contrib>
<contrib contrib-type="author">
<name><surname>Barcellos</surname><given-names>Pedro Tregnago</given-names></name>
<role>Conception and design of the research</role>
<role>analysis and interpretation of the data</role>
<role>critical revision of the manuscript for intellectual content</role>
<xref ref-type="aff" rid="aff1"><sup>1</sup></xref>
</contrib>
<contrib contrib-type="author">
<name><surname>Mazzuca</surname><given-names>Ana Carolina Martins</given-names></name>
<role>acquisition of data</role>
<role>analysis and interpretation of the data</role>
<role>critical revision of the manuscript for intellectual content</role>
<xref ref-type="aff" rid="aff1"><sup>1</sup></xref>
</contrib>
<contrib contrib-type="author">
<contrib-id contrib-id-type="orcid">0000-0003-3080-0968</contrib-id>
<name><surname>Pianca</surname><given-names>Eduardo Gatti</given-names></name>
<role>Conception and design of the research</role>
<role>acquisition of data</role>
<role>analysis and interpretation of the data</role>
<role>writing of the manuscript</role>
<role>critical revision of the manuscript for intellectual content</role>
<xref ref-type="aff" rid="aff1"><sup>1</sup></xref>
</contrib>
<aff id="aff1">
<label>1</label>
<institution content-type="orgname">Hospital Nossa Senhora da Conceição</institution>
<addr-line>
<named-content content-type="city">Porto Alegre</named-content>
<named-content content-type="state">RS</named-content>
</addr-line>
<country country="BR">Brazil</country>
<institution content-type="original">Hospital Nossa Senhora da Conceição, Porto Alegre, RS – Brazil</institution>
</aff>
</contrib-group>
<author-notes>
<corresp id="c1"><label>Mailing Address:</label> <bold>Saulo Rodrigo Cunha</bold> • Hospital Nossa Senhora da Conceição. Av. Francisco Trein, 596. Postal code: <postal-code>91350-200</postal-code>. Bairro Cristo Redentor, Porto Alegre, RS – Brazil E-mail: <email>saulo_rodrigom@hotmail.com</email></corresp>
<fn fn-type="coi-statement"><label>Potential Conflict of Interest</label>
<p>No potential conflict of interest relevant to this article was reported.</p></fn>
<fn fn-type="edited-by"><label>Editor responsible for the review:</label> <p>Andrea Vilela</p></fn>
</author-notes>
<pub-date publication-format="electronic" date-type="pub">
<day>03</day>
<month>12</month>
<year>2025</year>
</pub-date>
<pub-date publication-format="electronic" date-type="collection">
<year>2025</year>
</pub-date>
<volume>38</volume>
<issue>3</issue>
<elocation-id>e20250014</elocation-id>
<history>
<date date-type="received">
<day>16</day>
<month>02</month>
<year>2025</year>
</date>
<date date-type="rev-recd">
<day>30</day>
<month>04</month>
<year>2025</year>
</date>
<date date-type="accepted">
<day>25</day>
<month>06</month>
<year>2025</year>
</date>
</history>
<permissions>
<license license-type="open-access" xlink:href="https://creativecommons.org/licenses/by/4.0/" xml:lang="en">
<license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution License</license-p>
</license>
</permissions>
<kwd-group xml:lang="en">
<title>Keywords</title>
<kwd>Atrial Heart Septal Defects</kwd>
<kwd>Congenital Heart Defects</kwd>
<kwd>Adult</kwd>
</kwd-group>
<funding-group>
<funding-statement><bold>Sources of Funding</bold> There were no external funding sources for this study.</funding-statement>
</funding-group>
<counts>
<fig-count count="12"/>
<table-count count="0"/>
<equation-count count="0"/>
<ref-count count="9"/>
</counts>
</article-meta>
</front>
<body>
<p>The prevalence of congenital heart disease in the adult population has shown continuous growth over recent decades. This is primarily due to significant advances in the diagnosis and treatment of congenital heart defects during childhood, which have been promoted by pediatric cardiology and congenital cardiac surgery. As a result, most children with congenital heart disease, including the most complex forms, now survive into adulthood. Currently, it is estimated that approximately 90% of children diagnosed with severe congenital heart disease reach 18 years of age. The growing clinical relevance of the adult congenital heart disease (ACHD) population stands out in this context. This is a heterogeneous group, both anatomically and pathophysiologically, as well as in terms of the different types of corrective or palliative surgical interventions to which they have been subjected. Although the overall number of individuals with ACHD continues to rise, the number of patients with certain specific anomalies or who have undergone specific types of repairs may still be relatively small.<sup><xref ref-type="bibr" rid="B1">1</xref></sup></p>
<p>Atrioventricular (AV) septal defect is morphologically characterized by a common AV junction, with absence of the membranous and muscular AV septa. As a result, on echocardiographic examination, the AV valves are seen situated within the defect.<sup><xref ref-type="bibr" rid="B2">2</xref></sup> Atrioventricular septal defects (AVSDs) can be classified as partial or complete. Partial AVSD occurs when there is an opening divided by the superior and inferior bridging leaflets, which are connected by a tissue structure known as the &quot;connecting tongue,&quot; separating the valve into two distinct orifices — one on the left and one on the right. On the other hand, complete AVSD is characterized by a single, undivided orifice encompassing the valvular structures on both the left and right sides.<sup><xref ref-type="bibr" rid="B2">2</xref></sup></p>
<sec sec-type="cases">
<title>Case report</title>
<p>Male patient, 18 years old, admitted to a tertiary care hospital presenting with fever, cough, and dyspnea for the past seven days. According to the patient&apos;s mother, he sought medical attention on the second day of symptoms at an urgent care clinic, where he was prescribed ibuprofen and azithromycin to take at home. Due to lack of improvement, he sought hospital care.</p>
<p>Medical history includes congenital heart disease, specifically a surgically uncorrected AVSD, as he had lost follow-up at the reference hospital since childhood. On physical exam, he appeared in fair condition, with a productive cough, rapid breathing, and cyanosis around the lips and extremities. Hemodynamically stable, with blood pressure of 125 × 86 mmHg, heart rate of 105 bpm in atrial fibrillation rhythm, and oxygen saturation of 69% on room air.</p>
<p>Laboratory tests revealed: hemoglobin 16.2 g/dL, leukocytes 8,960/μL, CRP values over different days: 69.82 – 65.88 – 152.55 mg/dL (reference &lt; 5 mg/dL), urea 20 mg/dL, creatinine 0.62 mg/dL, sodium 137 mEq/L, troponins 12 and 11.9 ng/L (reference &lt; 14), NT-proBNP 4,377 pg/mL, and D-dimer 11,656 ng/mL. Blood cultures, urine culture, and rapid COVID-19 test were negative. The sputum smear showed some gram-negative diplococci, but the sputum culture was negative. The Mycobacterium tuberculosis DNA test also came back negative. Electrocardiogram showed atrial fibrillation, and a chest X-ray was ordered for further evaluation (<xref ref-type="fig" rid="f1">Figure 1</xref> and <xref ref-type="fig" rid="f2">2</xref>).</p>
<fig id="f1">
<label>Figure 1</label>
<caption>
<title>Resting Electrocardiogram: Atrial fibrillation rhythm, QRS axis +30°, secondary ventricular repolarization abnormalities.</title></caption>
<graphic xlink:href="2675-312X-abcic-38-03-e20250014-gf01.tif"/>
</fig>
<fig id="f2">
<label>Figure 2</label>
<caption>
<title>Posteroanterior Chest X-ray: Hospital admission. Significant global cardiomegaly.</title></caption>
<graphic xlink:href="2675-312X-abcic-38-03-e20250014-gf02.tif"/>
</fig>
<p>The patient was admitted to the Intensive Care Unit (ICU), where antibiotic therapy was broadened with the addition of amoxicillin/clavulanate, in combination with azithromycin. Blood and sputum cultures were collected, and an arterial blood gas test was performed. A chest CT angiography was also requested, which ruled out pulmonary embolism but contributed to the elucidation of congenital heart disease (<xref ref-type="fig" rid="f3">Figure 3</xref>).</p>
<fig id="f3">
<label>Figure 3</label>
<caption>
<title>Chest CT with multiplanar reconstruction: A) Transverse view showing significant cardiomegaly and presence of AV defect. The red arrow identifies a single atrium with marked enlargement. The yellow arrow shows the AVSD. The asterisk identifies an intact interventricular septum. B) Sagittal view showing dilation of the pulmonary artery. C) Coronal view.</title></caption>
<graphic xlink:href="2675-312X-abcic-38-03-e20250014-gf03.tif"/>
</fig>
<p>After 48 hours in the ICU, the patient was transferred to the general ward and remained under the care of the cardiology team. A transthoracic echocardiogram was performed, confirming the diagnosis of partial AVSD, as described below: Situs: Left isomerism. Cardiac position: Levocardia. AV connection type: Via two valves located in the same plane. Ventriculo-arterial connection type: Concordant. Mode of ventriculo-arterial connection: With normally related great arteries. It showed Large single atrium due to absence of the interatrial septum. Moderate-to-severe left AV valve regurgitation (EROA: 0.22 cm<sup>2</sup>, regurgitant volume 16 mL, vena contracta 0.45 cm). Moderate right AV valve regurgitation (EROA: 0.23 cm<sup>2</sup>, regurgitant volume 21 mL, estimated peak jet velocity of 3.95 m/s, and pulmonary artery systolic pressure of 72 mmHg). Pulmonary hypertension (PH). Pulmonary artery significantly dilated, measuring approximately 5.0 cm. Left ventricle with concentric remodeling and preserved systolic function (61%). Right ventricle enlarged with reduced systolic function (FAC: 27.5%, S’ wave 9.3 cm/s) (<xref ref-type="fig" rid="f4">Figures 4</xref> e <xref ref-type="fig" rid="f5">5</xref>, <xref ref-type="fig" rid="f6">Video 1</xref>).</p>
<fig id="f4">
<label>Figure 4</label>
<caption>
<title>Apical 4-chamber (A4C) transthoracic echocardiogram: A) Left and right AV valves are open and aligned in the same plane. B) Left and right AV valves are closed. C) Image shows the single atrium volume.</title></caption>
<graphic xlink:href="2675-312X-abcic-38-03-e20250014-gf04.tif"/>
</fig>
<fig id="f5">
<label>Figure 5</label>
<caption>
<title>Transthoracic echocardiogram: A) Left AV valve in parasternal long-axis view with vena contracta measurement. B) Left AV valve in A4C view with measurements of jet radius, EROA, and regurgitant volume. C) A4C view showing single atrium and regurgitant jets from both AV valves, with right valve jet measurements including radius, EROA, and regurgitant volume.</title></caption>
<graphic xlink:href="2675-312X-abcic-38-03-e20250014-gf05.tif"/>
</fig>
<media id="m1" mime-subtype="mp4" mimetype="video" xlink:href="2675-312X-abcic-38-03-e20250014-m01.mp4">
<label>Video 1</label>
<caption>
<title>Ecocardiograma transtorácico mostrando valvas AVs esquerda e direita no mesmo plano com ampla comunicação interatrial.</title></caption>
<caption><title>Link: <ext-link ext-link-type="uri" xlink:href="http://abcimaging.org/supplementary-material/2025/3801/2025-0014_video_1.mp4">http://abcimaging.org/supplementary-material/2025/3801/2025-0014_video_1.mp4</ext-link></title></caption>
</media>
<p>In this case report, a tissue tongue is observed connecting the two bridging leaflets, resulting in the separation of the AV valve into two distinct orifices — one right and one left. Additionally, the bridging leaflets are fused to the crest of the interventricular septum (<xref ref-type="fig" rid="f6">Video 1</xref>).</p>
<p>Due to the clinical presentation, the working diagnosis upon admission was community-acquired pneumonia. Following antibiotic therapy, his fever and general condition improved, though he continued to experience exertional shortness of breath and maintained a resting oxygen saturation of 87%. He was discharged on rivaroxaban, sildenafil, carvedilol, enalapril, spironolactone, digoxin, and furosemide, and scheduled to start bosentan to improve functional class and quality of life.</p>
<p>While a recent right heart catheterization was not performed, echocardiographic findings strongly suggest Eisenmenger syndrome, indicating elevated pulmonary vascular resistance. As such, surgical correction of the AV septal defect is contraindicated. A combined heart-lung transplant may be considered for patients with complex cases, poor prognosis, and unresponsiveness to medical therapy.</p>
</sec>
<sec sec-type="discussion">
<title>Discussion</title>
<p>From a management standpoint, most adults with AVSD will have undergone surgical repair during childhood. In cases of complete AVSD — involving both a large Atrial Septal Defect (ASD) e Ventricular Septal Defect (VSD) —, failure to perform early surgical correction — typically before six months of age — can lead to irreversible pulmonary vascular disease and, eventually, Eisenmenger physiology, which rules out the possibility of complete repair.<sup><xref ref-type="bibr" rid="B3">3</xref></sup></p>
<p>A 2014 study found that the overall prevalence of PH in adults with congenital heart disease was 3.2%, being more prevalent among older patients.<sup><xref ref-type="bibr" rid="B4">4</xref></sup> Among patients who previously underwent correction for simple congenital defects, such as atrial or ventricular septal defects, or patent ductus arteriosus, the prevalence of PH was found to be 3%. The risk increased significantly with older age at the time of surgical intervention.<sup><xref ref-type="bibr" rid="B5">5</xref></sup></p>
<p>PH in ACHD presents a wide range of clinical manifestations. In this population, management encompasses both non-pharmacological strategies (such as patient education, dental care, vaccination, and psychosocial support) and pharmacological therapies. In recent years, treatment options have expanded with the advent of pulmonary vasodilators targeting various pathways, leading to significant improvements in quality of life.<sup><xref ref-type="bibr" rid="B6">6</xref></sup> Outcomes for those with PH have also improved, thanks to broader access to targeted PH therapies, advances in perioperative care, and the adoption of multidisciplinary management approaches.<sup><xref ref-type="bibr" rid="B7">7</xref></sup></p>
<p>For patients who have undergone surgical repair, long-term follow-up is essential to monitor for potential complications such as left AV valve regurgitation or stenosis, left ventricular outflow tract (LVOT) obstruction due to anatomical distortion, and tachyarrhythmias or bradyarrhythmias. Left AV valve regurgitation is the most common cause of late surgical reintervention. There are few long-term follow-up studies of patients after childhood AVSD repair; therefore, the most effective and efficient timing and method of monitoring are still under investigation.<sup><xref ref-type="bibr" rid="B8">8</xref></sup></p>
<p>In this case, most AVSD features were successfully identified via 2D echocardiography. However, when surgical repair is a viable option, 3D echocardiography can provide a more detailed view of the AV valve anatomy, enhancing preoperative planning for valve reconstruction.<sup><xref ref-type="bibr" rid="B8">8</xref>,<xref ref-type="bibr" rid="B9">9</xref></sup></p>
<p>Adults with uncorrected congenital heart disease represent a growing population, characterized by complex clinical scenarios that demand highly individualized therapeutic approaches. In this context, two-dimensional echocardiography becomes an essential tool, not only for accurate diagnosis but also for supporting the development of patient-specific therapeutic strategies.</p>
</sec>
</body>
<back>
<fn-group>
<fn fn-type="financial-disclosure" id="fn1">
<label>Sources of Funding</label>
<p>There were no external funding sources for this study.</p></fn>
<fn fn-type="other" id="fn2">
<label>Study Association</label>
<p>This article is part of the scientific output of the Medical Residency Program in Echocardiography, developed by the residents and preceptors of Hospital Nossa Senhora da Conceição.</p></fn>
<fn fn-type="other" id="fn3">
<label>Ethics Approval and Consent to Participate</label>
<p>This study was approved by the Ethics Committee of the Hospital Nossa Senhora da Conceição Sá under the protocol number CAAE: 91751125.8.0000.5530, Technical opinion: 7.974.789. All the procedures in this study were in accordance with the 1975 Helsinki Declaration, updated in 2013. Informed consent was obtained from all participants included in the study.</p></fn>
<fn fn-type="other" id="fn4">
<label>Use of Artificial Intelligence</label>
<p>The authors did not use any artificial intelligence tools in the development of this work.</p></fn>
</fn-group>
<sec sec-type="data-availability" specific-use="data-in-article">
<title>Availability of Research Data</title>
<p>The underlying content of the research text is contained within the manuscript.</p>
</sec>
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</back>
<sub-article article-type="translation" id="S1" xml:lang="pt">
<front-stub>
<article-id pub-id-type="doi">10.36660/abcimg.20250014</article-id>
<article-categories>
<subj-group subj-group-type="heading">
<subject>Relato de Caso</subject>
</subj-group>
</article-categories>
<title-group>
<article-title>Desafios e Implicações do Defeito do Septo Atrioventricular Não Corrigido em Adultos: Um Relato de Caso Complexo</article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<contrib-id contrib-id-type="orcid">0009-0007-2101-9367</contrib-id>
<name><surname>Cunha</surname><given-names>Saulo Rodrigo</given-names></name>
<role>Concepção e desenho da pesquisa</role>
<role>obtenção de dados</role>
<role>análise e interpretação dos dados</role>
<role>redação do manuscrito</role>
<xref ref-type="aff" rid="aff2"><sup>1</sup></xref>
<xref ref-type="corresp" rid="c2"/>
</contrib>
<contrib contrib-type="author">
<name><surname>Minotto</surname><given-names>Rafael Felipe</given-names></name>
<role>obtenção de dados</role>
<role>análise e interpretação dos dados</role>
<xref ref-type="aff" rid="aff2"><sup>1</sup></xref>
</contrib>
<contrib contrib-type="author">
<contrib-id contrib-id-type="orcid">0009-0004-1636-608X</contrib-id>
<name><surname>Pandolfo</surname><given-names>Fernanda</given-names></name>
<role>Concepção e desenho da pesquisa</role>
<role>análise e interpretação dos dados</role>
<role>revisão crítica do manuscrito quanto ao conteúdo intelectual importante</role>
<xref ref-type="aff" rid="aff2"><sup>1</sup></xref>
</contrib>
<contrib contrib-type="author">
<contrib-id contrib-id-type="orcid">0000-0001-8622-8636</contrib-id>
<name><surname>Barros</surname><given-names>Fernando Colares</given-names></name>
<role>Concepção e desenho da pesquisa</role>
<role>obtenção de dados</role>
<role>análise e interpretação dos dados</role>
<xref ref-type="aff" rid="aff2"><sup>1</sup></xref>
</contrib>
<contrib contrib-type="author">
<name><surname>Barcellos</surname><given-names>Pedro Tregnago</given-names></name>
<role>Concepção e desenho da pesquisa</role>
<role>análise e interpretação dos dados</role>
<role>revisão crítica do manuscrito quanto ao conteúdo intelectual importante</role>
<xref ref-type="aff" rid="aff2"><sup>1</sup></xref>
</contrib>
<contrib contrib-type="author">
<name><surname>Mazzuca</surname><given-names>Ana Carolina Martins</given-names></name>
<role>obtenção de dados</role>
<role>análise e interpretação dos dados</role>
<role>revisão crítica do manuscrito quanto ao conteúdo intelectual importante</role>
<xref ref-type="aff" rid="aff2"><sup>1</sup></xref>
</contrib>
<contrib contrib-type="author">
<contrib-id contrib-id-type="orcid">0000-0003-3080-0968</contrib-id>
<name><surname>Pianca</surname><given-names>Eduardo Gatti</given-names></name>
<role>Concepção e desenho da pesquisa</role>
<role>obtenção de dados</role>
<role>análise e interpretação dos dados</role>
<role>redação do manuscrito</role>
<role>revisão crítica do manuscrito quanto ao conteúdo intelectual importante</role>
<xref ref-type="aff" rid="aff2"><sup>1</sup></xref>
</contrib>
<aff id="aff2">
<label>1</label>
<addr-line>
<named-content content-type="city">Porto Alegre</named-content>
<named-content content-type="state">RS</named-content>
</addr-line>
<country country="BR">Brasil</country>
<institution content-type="original">Hospital Nossa Senhora da Conceição, Porto Alegre, RS – Brasil</institution>
</aff>
</contrib-group>
<author-notes>
<corresp id="c2"><label>Correspondência:</label> <bold>Saulo Rodrigo Cunha</bold> • Hospital Nossa Senhora da Conceição. Av. Francisco Trein, 596. CEP: <postal-code>91350-200</postal-code>. Bairro Cristo Redentor, Porto Alegre, RS – Brasil E-mail: <email>saulo_rodrigom@hotmail.com</email></corresp>
<fn fn-type="conflict"><label>Potencial Conflito de Interesse</label>
<p>Declaro não haver conflito de interesses pertinentes.</p></fn>
<fn fn-type="edited-by"><label>Editor responsável pela revisão:</label> <p>Andrea Vilela</p></fn>
</author-notes>
<kwd-group xml:lang="pt">
<title>Palavras-chave</title>
<kwd>Comunicação Interatrial</kwd>
<kwd>Cardiopatias Congênitas</kwd>
<kwd>Adulto</kwd>
</kwd-group>
<funding-group>
<funding-statement><bold>Fontes de Financiamento</bold> O presente estudo não teve fontes de financiamento externas.</funding-statement>
</funding-group>
</front-stub>
<body>
<p>A prevalência de cardiopatias congênitas na população adulta tem apresentado crescimento contínuo nas últimas décadas. Esse aumento se deve, principalmente, aos avanços significativos no diagnóstico e no tratamento de defeitos cardíacos congênitos na infância, promovidos pela cardiologia pediátrica e pela cirurgia cardíaca congênita. Como resultado, a maioria das crianças com cardiopatias congênitas, inclusive as formas mais complexas, sobrevive até a vida adulta. Atualmente, estima-se que cerca de 90% das crianças diagnosticadas com cardiopatia congênita grave alcançam os 18 anos de idade. A crescente relevância clínica da população com cardiopatia congênita em adultos (CCA) destaca-se nesse contexto. Trata-se de um grupo heterogêneo, tanto em termos anatômicos e fisiopatológicos quanto em relação aos diferentes tipos de intervenções cirúrgicas corretivas ou paliativas às quais foram submetidos. Apesar do aumento absoluto no número de indivíduos com CCA, a quantidade de pacientes com determinadas anomalias específicas ou submetidos a tipos específicos de reparo pode ainda ser relativamente pequena.<sup><xref ref-type="bibr" rid="B1">1</xref></sup></p>
<p>O defeito do septo atrioventricular (AV) apresenta um aspecto morfológico caracterizado por uma junção AV comum, com ausência dos septos AV membranoso e muscular. Como resultado, no exame ecocardiográfico, observa-se as valvas AV situadas dentro do defeito.<sup><xref ref-type="bibr" rid="B2">2</xref></sup> Os defeitos septais atrioventriculares (DSAVs) podem ser classificados como parciais ou totais. O DSAV parcial ocorre quando há um orifício dividido pelos folhetos &quot;ponte&quot; superior e inferior, que estão conectados por uma estrutura tecidual conhecida como &quot;<italic>connecting tongue&quot;</italic>, a qual separa a valva em dois orifícios distintos — um esquerdo e outro direito. Por outro lado, o DSAV total caracteriza-se por um orifício único e não dividido, englobando as estruturas valvares tanto do lado esquerdo quanto do lado direito.<sup><xref ref-type="bibr" rid="B2">2</xref></sup></p>
<sec sec-type="cases">
<title>Relato de caso</title>
<p>Paciente do sexo masculino, 18 anos, admitido em hospital terciário com quadro de febre, tosse e dispneia há sete dias. A mãe relatou que o paciente procurou atendimento no segundo dia de sintomas em uma unidade de pronto atendimento, onde foi prescrito ibuprofeno e azitromicina para uso domiciliar. Devido à ausência de melhora, buscou assistência médica hospitalar.</p>
<p>Antecedentes patológicos incluem cardiopatia congênita, especificamente DSAV não corrigido cirurgicamente, uma vez que perdeu seguimento no hospital de referência desde a infância. Ao exame físico, encontrava-se em regular estado geral, tosse produtiva, taquipneico, com cianose perioral e de extremidades. Estava hemodinamicamente estável, com pressão arterial de 125 × 86 mmHg, frequência cardíaca de 105 bpm em ritmo de fibrilação atrial e saturação de oxigênio de 69% em ar ambiente.</p>
<p>Foram realizados exames laboratoriais, que revelaram: hemoglobina 16,2 g/dL, leucócitos 8.960/μL, PCR de dias diferentes: 69,82 – 65,88 – 152,55 mg/dl (VR &lt; 5 mg/dl), ureia 20 mg/dL, creatinina 0,62 mg/dL, sódio 137 mEq/L, troponinas 12 e 11,9 ng/L (VR &lt; 14), NT-proBNP 4.377 pg/mL e D-dímero 11.656 ng/mL. Hemoculturas, urocultura, teste rápido para COVID negativos. A bacterioscopia de escarro apresentou como resultado: alguns diplococos gram negativos e cultura de escarro negativa. Também foi pesquisado DNA de Mycobacterium tuberculosis, o qual apresentou resultado negativo. O eletrocardiograma evidenciou fibrilação atrial, e a radiografia de tórax foi solicitada para complementação diagnóstica (<xref ref-type="fig" rid="f7">Figuras 1</xref> e <xref ref-type="fig" rid="f8">2</xref>).</p>
<fig id="f7">
<label>Figura 1</label>
<caption>
<title>Eletrocardiograma de repouso. Ritmo de fibrilação atrial, eixo elétrico QRS +30°, alterações secundárias da repolarização ventricular.</title></caption>
<graphic xlink:href="2675-312X-abcic-38-03-e20250014-gf01-pt.tif"/>
</fig>
<fig id="f8">
<label>Figura 2</label>
<caption>
<title>Radiografia de tórax PA. Admissão hospitalar. Cardiomegalia global importante.</title></caption>
<graphic xlink:href="2675-312X-abcic-38-03-e20250014-gf02-pt.tif"/>
</fig>
<p>O paciente foi admitido na Unidade de Terapia Intensiva (UTI), onde foi ampliada antibioticoterapia com a introdução de amoxicilina/clavulanato, associada à azitromicina. Foram coletadas hemoculturas, cultura de escarro e realizada gasometria arterial. Além disso, foi solicitada uma angiotomografia de tórax, que descartou tromboembolismo pulmonar, porém contribuiu para a elucidação da cardiopatia congênita (<xref ref-type="fig" rid="f9">Figura 3</xref>).</p>
<fig id="f9">
<label>Figura 3</label>
<caption>
<title>Tomografia computadorizada de tórax com reconstrução multiplanar: A) Corte transversal com importante cardiomegalia e presença de defeito AV. A seta vermelha identifica átrio único, com aumento importante de suas dimensões. A seta amarela mostra o DSAV. O asterisco identifica o septo interventricular íntegro. B) Corte sagital mostrando dilatação da artéria pulmonar. C) Corte coronal.</title></caption>
<graphic xlink:href="2675-312X-abcic-38-03-e20250014-gf03-pt.tif"/>
</fig>
<p>Após 48 horas na UTI, o paciente recebeu alta para a enfermaria, permanecendo sob os cuidados da equipe de cardiologia. Foi realizado um ecocardiograma transtorácico, que confirmou o diagnóstico de defeito do DSAV parcial, conforme descrito a seguir: Situs: isomerismo esquerdo. Posição cardíaca: Levocardia. Tipo de conexão AV: através de duas valvas localizadas no mesmo plano. Tipo de conexão ventrículo arterial: concordante. Modo de conexão ventrículo arterial: com vasos normorelacionados. Apresentava grande comunicação interatrial tipo átrio único, por ausência de septo interatrial. Insuficiência da valva AV esquerda moderada a importante (EROA: 0,22 cm<sup>2</sup>, volume regurgitante de 16 mL e vena contracta de 0,45 cm). Insuficiência da valva AV direita moderada (EROA: 0,23 cm<sup>2</sup> e volume regurgitante de 21 mL, permitindo estimar velocidade máxima do jato em 3,95 m/s e pressão sistólica da artéria pulmonar em 72 mmHg). Hipertensão Pulmonar (HP). Artéria pulmonar com dilatação importante, medindo cerca de 5,0 cm. Ventrículo esquerdo com remodelamento concêntrico e função sistólica preservada (61%). Ventrículo direito com aumento das dimensões e função sistólica reduzida (FAC: 27,5%, onda S1 de 9,3 cm/s) (<xref ref-type="fig" rid="f10">Figuras 4</xref> e <xref ref-type="fig" rid="f11">5</xref>, <xref ref-type="fig" rid="f12">Vídeo 1</xref>).</p>
<fig id="f10">
<label>Figura 4</label>
<caption>
<title>Ecocardiograma transtorácico apical 4 câmaras (A4C): A) Valvas AVs esquerda e direita abertas e no mesmo plano. B) Valvas AV esquerda e direita fechadas. C) A imagem mostra o volume do átrio único.</title></caption>
<graphic xlink:href="2675-312X-abcic-38-03-e20250014-gf04-pt.tif"/>
</fig>
<fig id="f11">
<label>Figura 5</label>
<caption>
<title>Ecocardiograma transtorácico. A) Valva AV esquerda no corte paraesternal eixo longo, com medida de vena contracta do jato. B) Valva AV esquerda no corte A4C com medidas raio do jato regurgitante, EROA e volume regurgitante. C) Corte A4C mostrando átrio único e os jatos regurgitantes das valvas AV esquerda e direita com medidas desta última do raio do jato regurgitante, ERO e volume regurgitante.</title></caption>
<graphic xlink:href="2675-312X-abcic-38-03-e20250014-gf05-pt.tif"/>
</fig>
<media id="m2" mime-subtype="mp4" mimetype="video" xlink:href="2675-312X-abcic-38-03-e20250014-m01.mp4">
<label>Vídeo 1</label>
<caption>
<title>Ecocardiograma transtorácico mostrando valvas AVs esquerda e direita no mesmo plano com ampla comunicação interatrial.</title></caption>
<caption><title>Link: <ext-link ext-link-type="uri" xlink:href="http://abcimaging.org/supplementary-material/2025/3801/2025-0014_video_1.mp4">http://abcimaging.org/supplementary-material/2025/3801/2025-0014_video_1.mp4</ext-link></title></caption>
</media>
<p>No presente relato de caso, observa-se a presença de uma lingueta de tecido conectando os dois folhetos &quot;ponte&quot;, resultando na separação da valva AV em dois orifícios distintos — um direito e outro esquerdo. Além disso, os folhetos &quot;ponte&quot; encontram-se fundidos ao topo do septo interventricular (<xref ref-type="fig" rid="f12">Vídeo 1</xref>).</p>
<p>Em virtude do quadro clínico apresentado a hipótese diagnóstica estabelecida na internação foi de pneumonia adquirida na comunidade. Após antibioticoterapia, o paciente evoluiu com melhora da febre e do estado geral, embora com manutenção de dispneia aos esforços habituais e saturação de oxigênio basal de 87%. Recebeu alta com prescrição de rivaroxabana, sildenafil, carvedilol, enalapril, espironolactona, digoxina e furosemida. Em programação de iniciar bosentana com objetivo de melhorar classe funcional e qualidade de vida.</p>
<p>Embora não tenha sido realizado cateterismo cardíaco direito recentemente, podemos inferir que, devido aos achados ecocardiográfico, sugere que o paciente apresente síndrome de Eisenmenger, com alta resistência vascular pulmonar e, dessa forma, a correção cirúrgica do defeito do septo AV é contraindicada. O transplante combinado de coração e pulmão seria uma opção para pacientes com casos complexos, com mau prognóstico e que não respondem a terapia medicamentosa.</p>
</sec>
<sec sec-type="discussion">
<title>Discussão</title>
<p>Do ponto de vista do manejo, a maioria dos adultos com DSAV terá passado por reparo cirúrgico na infância. Se aqueles com DSAV completo (com grande Comunicação Interatrial (CIA) e Comunicação Interventricular (CIV)) não forem corrigidos precocemente (normalmente antes dos seis meses de idade), costuma-se desenvolver doença vascular pulmonar irreversível, resultando na fisiologia de Eisenmenger, o que impede a correção completa.<sup><xref ref-type="bibr" rid="B3">3</xref></sup></p>
<p>Um estudo de 2014 constatou que a prevalência geral de HP em adultos com alguma cardiopatia congênita foi de 3,2%; sendo mais prevalente em pacientes com maior idade.<sup><xref ref-type="bibr" rid="B4">4</xref></sup> Já a prevalência de HP em pacientes com correção prévia de defeitos simples congênitos (comunicação interatrial, comunicação interventricular, ou persistência do canal arterial), foi de 3%. O risco aumentou significativamente quanto maior a idade no momento da correção.<sup><xref ref-type="bibr" rid="B5">5</xref></sup></p>
<p>A HP em CCA é uma complicação de amplo espectro clínico. O manejo desses pacientes envolve uma série de fatores com componente não medicamentoso (educação do paciente, cuidados dentários, vacinação e acompanhamento psicossocial) e medicamentoso, o qual têm apresentando evolução nas possibilidades de tratamento com melhora da qualidade de vida (medicações vasodilatadoras pulmonares com diferentes mecanismos de ação).<sup><xref ref-type="bibr" rid="B6">6</xref></sup> A evolução dos pacientes com HP apresentou melhora em virtude da maior disponibilidade de terapias de HP, melhor manejo perioperatório e abordagem multidisciplinar destes pacientes.<sup><xref ref-type="bibr" rid="B7">7</xref></sup></p>
<p>Para aqueles que passaram por reparo cirúrgico, é necessário acompanhamento a longo prazo para monitorar possíveis complicações, como a regurgitação e estenose da válvula AV esquerda, obstrução do trato de saída do ventrículo esquerdo (TSVE) devido à forma anormal do TSVE, e taquiarritmias ou bradiarritmias. A regurgitação da válvula AV esquerda é a causa mais comum de reintervenção cirúrgica tardia. Existem poucos estudos de acompanhamento a longo prazo de pacientes após reparo de DSAV na infância, portanto, o momento e o tipo mais eficazes e eficientes de monitoramento ainda estão sendo avaliados.<sup><xref ref-type="bibr" rid="B8">8</xref></sup></p>
<p>Embora, no caso apresentado, a identificação de grande parte das características do DSAV tenha ocorrido pelo ecocardiograma 2D, quando existe a possibilidade de reparo cirúrgico, o ecocardiograma 3D pode auxiliar na caracterização detalhada da válvula AV, auxiliando no planejamento cirúrgico da reconstrução valvar.<sup><xref ref-type="bibr" rid="B8">8</xref>,<xref ref-type="bibr" rid="B9">9</xref></sup></p>
<p>Os adultos com cardiopatia congênita não corrigida representam uma população em crescimento, caracterizando-se por casos clínicos complexos que demandam abordagens terapêuticas altamente individualizadas. Nesse contexto, o ecocardiograma bidimensional torna-se uma ferramenta essencial, não apenas para o diagnóstico preciso, mas também para o suporte na elaboração de estratégias terapêuticas adequadas a cada paciente.</p>
</sec>
</body>
<back>
<fn-group>
<fn fn-type="financial-disclosure" id="fn5">
<label>Fontes de Financiamento</label>
<p>O presente estudo não teve fontes de financiamento externas.</p></fn>
<fn fn-type="other" id="fn6">
<label>Vinculação Acadêmica</label>
<p>Este artigo é parte da produção científica do Programa de Residência Médica em Ecocardiografia dos residentes e preceptores do Hospital Nossa Senhora da Conceição</p></fn>
<fn fn-type="other" id="fn7">
<label>Aprovação Ética e Consentimento Informado</label>
<p>Este estudo foi aprovado pelo Comitê de Ética do Hospital Nossa Senhora da Conceição Sá sob o número de protocolo CAAE: 91751125.8.0000.5530, Parecer: 7.974.789. Todos os procedimentos envolvidos nesse estudo estão de acordo com a Declaração de Helsinki de 1975, atualizada em 2013. O consentimento informado foi obtido de todos os participantes incluídos no estudo.</p></fn>
<fn fn-type="other" id="fn8">
<label>Uso de Inteligência Artificial</label>
<p>Os autores não utilizaram ferramentas de inteligência artificial no desenvolvimento deste trabalho.</p></fn>
</fn-group>
<sec sec-type="data-availability" specific-use="data-in-article">
<title>Disponibilidade de Dados</title>
<p>Os conteúdos subjacentes ao texto da pesquisa estão contidos no manuscrito.</p>
</sec>
</back>
</sub-article>
</article>