Complex congenital cardiac anomalies in an infant with Multi-system disorders presenting in Heart failure; A case report

Complex congenital cardiac anomalies in an infant with Multi-system disorders presenting in Heart failure; A case report | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Complex congenital cardiac anomalies in an infant with Multi-system disorders presenting in Heart failure; A case report Ahmad Bashir Umar, Abbas Rabiu, Ikechukwuka Ifeanyichukwu ALIOKE, and 2 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-5958670/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Background: Congenital anomalies are rare but can be extremely complex, presenting significant challenges for both diagnosis and treatment, especially in developing countries like Nigeria. These conditions often require precise imaging and a personalized approach to care. Case Presentation: We present the case of a 10-month-old infant with a rare combination of left atrial isomerism with a single atrium, complete atrioventricular septal defect (AVSD), and severe pulmonary stenosis, who presented with features of cardiac failure. Imaging played a crucial role in identifying the anomalies, guiding diagnosis, and informing management strategies. Despite financial constraints limiting surgical intervention, the patient continues to be managed with an anti-failure regimen. Conclusions: Advanced imaging and a multidisciplinary approach are critical in managing congenital heart defects. This case highlights the importance of early detection and thorough evaluation, even in resource-limited settings, to optimize patient outcomes. Complex congenital heart anomalies Complete atrio-ventricular septal defect Echocardiography Pulmonary stenosis Figures Figure 1 Figure 2 Figure 3 Figure 4 1.0 INTRODUCTION Globally, congenital anomalies are one of the most frequent causes of infant morbidity and mortality. 1 Each year, about one million children are born with congenital heart disease with a significant proportion within low and middle income countries. 2 Morbidity is also much higher in individuals with multiple congenital anomalies. 3 There is variation in clinical manifestation of congenital heart disease based on age at presentation ranging from neonatal period, infancy and childhood as well as adolescent stage. 4 In Nigeria, about 3.5 cases of congenital heart disease are seen in every 1000 live births. 5 Early detection of such anomalies is rare and only few tend to benefit from surgical intervention in such developing countries largely due to socio-economic challenges. 6 We present an unusual case of left atrial isomerism, complete AVSD with situs ambiguus and vertebral anomalies which are rare coexisting anomalies that were detected in infancy describing the presentation and management which will further add to the limited data in the literature. 2.0 CASE PRESENTATION The index patient is a 10-month-old who first presented as a moderate preterm female baby (delivered at 34 weeks on account of worsening maternal diabetes and pregnancy-induced hypertension) in the 9th week of life with fever, cough, difficulty in breathing and dusky lips; these were preceded by catarrhal symptoms. Admitting SPO2 was 79% which rose to 97% on intranasal oxygen supplementation. She was febrile, moderately pale and in severe respiratory distress – dyspnoiec, tachypnoiec, centrally cyanosed and grunting. She had bronchial breath sounds with rhales, tachycardia, a non-radiating pansystolic Left lower sternal edge (LLSE) grade 4 murmur and tender hepatomegaly. Admitting PCV was 28%. A preliminary diagnosis of congestive cardiac failure secondary to severe bronchopneumonia and severe anaemia in a child with suspected congenital heart disease was made. She had a blood transfusion, intravenous ceftazidime, gentamycin, frusemide and spironolactone. A chest radiograph revealed patchy consolidations, plethora and a globular-enlarged heart silhouette. Urgent transthoracic echocardiography ( Fig. 1 ) using a GE vivid I portal machine with a 12S RS neonatal phase-array probe revealed situs ambiguous, levocardia. The patient had left isomerism with a mid-line liver and hepatic veins were seen draining directly into a single atrium. The inferior vena cava (IVC) was interrupted with azygos continuation and the azygos vein was seen draining directly into the superior vena cava (SVC). Pulmonary veins were noted to be draining into the left portion of the single atrium with no evidence to suggest pulmonary venous obstruction. There was a complete atrio-ventricular septal defect (AVSD-Rastelli type A), severe right atrioventricular valve regurgitation and moderate to severe left atrioventricular valve regurgitation. The patient had balanced ventricles with trabeculated and hypertrophied right ventricle as well as good biventricular systolic contractility. There were no left or right outflow tract obstruction. The pulmonary valve was dysplastic and doming with severe pulmonary stenosis (Vmax 4 m/s) and post-stenotic dilatation of the main pulmonary artery. The branch pulmonary arteries were confluent and good-sized. The aortic valve was tri-leaflet and coronary arteries were normal bilaterally. The ductus arteriosus was closed and the aortic arch was widely open with no evidence of coarctation. Overall, an impression of left atrial isomerism with a single atrium, complete AVSD, and severe pulmonary stenosis was made. Captopril was cautiously added to the anti-failure regimen oxygen saturations in the mid-80s were deemed acceptable and oxygen was weaned off appropriately. The patient was discharged after 34 days of admission with a plan to have a computer tomography for further evaluation. Outcome: she has continued to maintain improvement on an anti-failure regimen with adequate weight gain (8.6 kg at 10 months), no clinical features of cardiac decompensating and has attained appropriate developmental milestones. She is billed for surgical intervention. An Ultrasonogram of the abdomen further confirmed the situs ambiguous and also showed polycystic ovaries. Subsequent computed tomographic angiogram further revealed a complete absence of the inter-atrial septum with an enlarged common atrium ( Fig. 2 ). A defect of about 8mm was noted within the membranous interventricular septum. Right myocardial wall hypertrophy was also observed with marked stenosis of the right main pulmonary artery. No major aorto-pulmonary collaterals were noted. The Inferior vena cava and liver were observed to be on the left side of the abdomen ( Fig. 3 ). Two trunks are seen arising from the arch of the aorta consistent with a Type II branching pattern. A bilobed right lung was also noted as well as the left main bronchus originating inferior to the pulmonary artery, consistent with hyparterial bronchus. With regards to the thoracic wall, there was spina bifida noted from T4 – T6 ( Fig. 4 ). A final diagnosis of complex congenital heart disease: left atrial isomerism, complete AVSD with situs ambiguus and vertebral anomalies was made. The patient requires right heart catheterization to ascertain the pulmonary vascular resistance as well as its response to 100% oxygen or Nitric oxide as this determines operability. Should the patient be deemed operable, the surgical plan involves complete bi-ventricular repair under cardiopulmonary bypass. The strategy involves aortic and single-stage venous cannulation, the institution of cardiac arrest and cardiac electromechanical quiescence, right atriotomy, placement of cardiotomy suckers into the ostia of any hepatic veins seen draining into the atrium, repair of the atrioventricular canal defect (ensuring the competence of the atrioventricular valves), pulmonary valvotomy ensuring adequate valve opening for body surface area, and complete septation of the atrium (ensuring that blood from the four pulmonary veins is baffled into the left atrium and the systemic venous return and the coronary sinus drain into the right atrium). However, the patient is yet to have the planned right heart catheterization and definitive operation due to financial constraints. 3.0 DISCUSSION Congenital heart disorders (CHD) are among the most common congenital malformations, consisting of a variety of cardiac and major vascular anomalies that are evident at birth. 7 In Ghana, Thomford et al conducted a study in a tertiary Hospital and found the common clinical signs and symptoms in patients being evaluated for congenital heart disease to include; dyspnea (6.4%), cyanosis (17.8%), coughing (10.2), fever (8.3%), murmur (3.8%), pallor (3.82%) and tachypnea (5.7%). 8 Some of these were observed in the index case. The commonest congenital heart disease in Nigeria from a study by Abdulkadir et al in Ilorin Nigeria, showed ventricular septal defect to have the largest proportion at 40.6% followed by patent ductus arteriosus at 18.4% and atrial septal defect at 11.3%. 5 In a study by Ekure et al in Lagos Nigeria, complete atrioventricular septal defect was observed in 8.6% of their participants with majority presenting in infancy. 3 The index patient also had complete AVSD and presented in infancy. During embryological development, atrioventricular junction septation is brought about by down growth of the atrial septum primum, fusion of the endocardial cushions and forward expansion of the vestibular spine between atrial septum and cushions. Thus, atrioventricular canal can result from arrest or interruption of the normal endocardial cushion development. 9 The pathogenetic mechanisms causing the spectrum of cardiovascular defects found in left isomerism remain poorly understood. 10 Our patient presented in heart failure which is one of the common presentation among children of African descent according to Namuyonga et al who carried out a 7 year review on pattern of congenital heart disease in children. 11 Abnormality of situs may coexist with congenital heart disease with an estimation of 1.1–1.2 per 10,000 live births. 12 Situs ambiguus was observed in our patient further reiterates the need to carefully and sequentially evaluate patients with congenital heart disease so as to avoid complications during management. In a study by Kocak et al in Turkey, they observed a prevalence of up to 27.8% of congenital heart disease among individuals with neural tube defect. 13 There is paucity of data/reports among black Africans regarding such association. However, spina bifida occulta was observed in the index case. Prompt medical and surgical interventions are key for successful management of septal defect related congenital heart disease. 14 Such interventions are crucial especially if there is associated multiple anomalies and complication of heart failure similar to our index case. 4.0 CONCLUSION We have demonstrated in this case report that imaging is key in evaluation of congenital anomalies and especially those related to cardiovascular disorders. Also, multiple anomalies may coexist prompting further search in evaluating patients presenting with such conditions so as to achieve optimal and appropriate care even in resource limited setting faced with socio-economic challenges. Declarations 4.0 SOURCE OF FUNDING None 5.0 ETHICAL CLEARANCE Ethical approval for the publication of this case report was obtained from the institutional ethics committee. 6.0 CONSENT TO PUBLISH The patient's guardians provided written informed consent for the publication of this case report and accompanying images. Author Contribution Ahmad Bashir UMAR: Drafting of text (Introduction) and reviewing radiological images Abbas Rabiu MUHAMMAD: Drafting of text (Discussion) and reviewing radiological images Ikechukwuka Ifeanyichukwu ALIOKE: Surgeon in charge of clinical care of the patient. Also responsible for drafting of surgical information and management. Was responsible for obtaining informed consent. Niyi Mustapha ADEBIYI: Clinician in charge of the medical clinical care of the patient and also drafted the clinical information.Abdulmumin Ohida YAKUBU: Consultant Pediatric Cardiologist who conducted the echocardiography and also reviewed the manuscript All authors reviewed the manuscript Acknowledgement professor Anas Ismail, Department of Rdaiology, Aimu Kano Teaching Hospital, Kano References Mashuda F, Zuechner A, Chalya PL, Kidenya BR, Manyama M. Pattern and factors associated with congenital anomalies among young infants admitted at Bugando medical centre, Mwanza, Tanzania. BMC research notes. 2014;7:1–7. Iyer PU, Moreno GE, Caneo LF, Faiz T, Shekerdemian LS, Iyer KS. Management of late presentation congenital heart disease. Cardiology in the Young. 2017;27(S6):S31-S9. Ekure EN, Kalu N, Sokunbi OJ, Kruszka P, Olusegun-Joseph AD, Ikebudu D, et al. Clinical epidemiology of congenital heart disease in Nigerian children, 2012–2017. Birth defects research. 2018;110(16):1233–40. Roy K, Shahed H, Roy K, Sarah QS, Chowdhury NS. Clinical presentation and complications of different congenital heart disease in children. Am J Pediatr. 2020;6:481–7. Abdulkadir M, Abdulkadir Z. A systematic review of trends and patterns of congenital heart disease in children in Nigeria from 1964–2015. African health sciences. 2016;16(2):367–77. Mocumbi AO, Lameira E, Yaksh A, Paul L, Ferreira MB, Sidi D. Challenges on the management of congenital heart disease in developing countries. International journal of cardiology. 2011;148(3):285–8. Zuechner A, Mhada T, Majani NG, Sharau GG, Mahalu W, Freund MW. Spectrum of heart diseases in children presenting to a paediatric cardiac echocardiography clinic in the Lake Zone of Tanzania: a 7 years overview. BMC Cardiovascular Disorders. 2019;19:1–6. Thomford NE, Biney RP, Okai E, Anyanful A, Nsiah P, Frimpong PG, et al. Clinical Spectrum of congenital heart defects (CHD) detected at the child health Clinic in a Tertiary Health Facility in Ghana: a retrospective analysis. Journal of Congenital Cardiology. 2020;4:1–11. Tulin R, Oprea S, Pantu C, Stanciulescu R, Andrei B, Jecan R, et al. THE EMBRYOLOGYCAL FEATURES OF ATRIOVENTRICULAR SEPTAL DEFECT DIAGNOSED IN THE FETAL LIFE. Männer J. Spontaneous Left Cardiac Isomerism in Chick Embryos: Case Report, Review of the Literature, and Possible Significance for the Understanding of Ventricular Non-Compaction Cardiomyopathy in the Setting of Human Heterotaxy Syndromes. Journal of Cardiovascular Development and Disease. 2019;6(4):40. Namuyonga J, Lubega S, Aliku T, Omagino J, Sable C, Lwabi P. Pattern of congenital heart disease among children presenting to the Uganda Heart Institute, Mulago Hospital: a 7-year review. African health sciences. 2020;20(2):745–52. Thakur V, Jaeggi ET, Yoo S-J. Abnormal visceral and atrial situs and congenital heart disease. Fetal Cardiology: CRC Press; 2018. p. 257–70. Koçak G, Önal Ç, Koçak A, Karakurt C, Ateş Ö, Çayli SR, et al. Prevalence and outcome of congenital heart disease in patients with neural tube defect. Journal of child neurology. 2008;23(5):526–30. Rao PS, Harris AD. Recent advances in managing septal defects: ventricular septal defects and atrioventricular septal defects. F1000Research. 2018;7. Additional Declarations No competing interests reported. Supplementary Files CAREchecklist.docx Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-5958670","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":412556684,"identity":"3796c5e9-5e77-4764-b558-45b8354603a9","order_by":0,"name":"Ahmad Bashir Umar","email":"","orcid":"","institution":"Aminu Kano Teaching Hospital","correspondingAuthor":false,"prefix":"","firstName":"Ahmad","middleName":"Bashir","lastName":"Umar","suffix":""},{"id":412556685,"identity":"12ec60bc-ee41-4768-831e-10d4c1c20ad8","order_by":1,"name":"Abbas 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13:53:30","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-5958670/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-5958670/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":76001392,"identity":"d3ebe137-bee4-42ac-a8af-5efaa7903b91","added_by":"auto","created_at":"2025-02-11 10:37:36","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":223221,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eEchocardiogram showing a large single atrium\u003c/strong\u003e\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-5958670/v1/fa9e71012d28cbaa40805a25.png"},{"id":76001036,"identity":"3abb3d9f-ab91-42dd-9636-373ceab0c8fb","added_by":"auto","created_at":"2025-02-11 10:29:36","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":91587,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eComputed Tomogram showing absent inter-atrial septum\u003c/strong\u003e\u003c/p\u003e","description":"","filename":"2.png","url":"https://assets-eu.researchsquare.com/files/rs-5958670/v1/8a037c838b40547f989bff33.png"},{"id":75999675,"identity":"404cd88d-dcb2-4ab6-9bd0-d0cc2a166bd2","added_by":"auto","created_at":"2025-02-11 10:21:36","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":134672,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eComputed Tomogram showing the liver with the inferior vena cava located on the left side of the abdomen.\u003c/strong\u003e\u003c/p\u003e","description":"","filename":"3.png","url":"https://assets-eu.researchsquare.com/files/rs-5958670/v1/a455babfd27e48cc73c67541.png"},{"id":76001393,"identity":"967554f2-4c5c-4100-becd-20ff9503b340","added_by":"auto","created_at":"2025-02-11 10:37:36","extension":"png","order_by":4,"title":"Figure 4","display":"","copyAsset":false,"role":"figure","size":220089,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003e3D volume-rendered computed tomogram showing spina bifida\u003c/strong\u003e\u003c/p\u003e","description":"","filename":"4.png","url":"https://assets-eu.researchsquare.com/files/rs-5958670/v1/09b1bc5b11d80f2ef45aefdd.png"},{"id":77358163,"identity":"3d9e7702-5182-4598-9709-41ddf53d2fde","added_by":"auto","created_at":"2025-02-27 18:31:43","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1285751,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-5958670/v1/ab37308f-b175-40ee-a2d7-bf982ffdb968.pdf"},{"id":75999673,"identity":"702939b6-33d1-4d43-b0db-eee2d33bfdb8","added_by":"auto","created_at":"2025-02-11 10:21:36","extension":"docx","order_by":0,"title":"","display":"","copyAsset":false,"role":"supplement","size":42038,"visible":true,"origin":"","legend":"","description":"","filename":"CAREchecklist.docx","url":"https://assets-eu.researchsquare.com/files/rs-5958670/v1/90674539746c27605abaccc8.docx"}],"financialInterests":"No competing interests reported.","formattedTitle":"Complex congenital cardiac anomalies in an infant with Multi-system disorders presenting in Heart failure; A case report","fulltext":[{"header":"1.0 INTRODUCTION","content":"\u003cp\u003eGlobally, congenital anomalies are one of the most frequent causes of infant morbidity and mortality.\u003csup\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e\u003c/sup\u003e Each year, about one million children are born with congenital heart disease with a significant proportion within low and middle income countries.\u003csup\u003e\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u003c/sup\u003e Morbidity is also much higher in individuals with multiple congenital anomalies.\u003csup\u003e\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e\u003c/sup\u003e There is variation in clinical manifestation of congenital heart disease based on age at presentation ranging from neonatal period, infancy and childhood as well as adolescent stage.\u003csup\u003e\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e\u003c/sup\u003e In Nigeria, about 3.5 cases of congenital heart disease are seen in every 1000 live births.\u003csup\u003e\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e\u003c/sup\u003e Early detection of such anomalies is rare and only few tend to benefit from surgical intervention in such developing countries largely due to socio-economic challenges.\u003csup\u003e\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u003c/sup\u003e We present an unusual case of left atrial isomerism, complete AVSD with situs ambiguus and vertebral anomalies which are rare coexisting anomalies that were detected in infancy describing the presentation and management which will further add to the limited data in the literature.\u003c/p\u003e"},{"header":"2.0 CASE PRESENTATION","content":"\u003cp\u003eThe index patient is a 10-month-old who first presented as a moderate preterm female baby (delivered at 34 weeks on account of worsening maternal diabetes and pregnancy-induced hypertension) in the 9th week of life with fever, cough, difficulty in breathing and dusky lips; these were preceded by catarrhal symptoms. Admitting SPO2 was 79% which rose to 97% on intranasal oxygen supplementation. She was febrile, moderately pale and in severe respiratory distress \u0026ndash; dyspnoiec, tachypnoiec, centrally cyanosed and grunting. She had bronchial breath sounds with rhales, tachycardia, a non-radiating pansystolic Left lower sternal edge (LLSE) grade 4 murmur and tender hepatomegaly. Admitting PCV was 28%.\u003c/p\u003e \u003cp\u003eA preliminary diagnosis of congestive cardiac failure secondary to severe bronchopneumonia and severe anaemia in a child with suspected congenital heart disease was made. She had a blood transfusion, intravenous ceftazidime, gentamycin, frusemide and spironolactone. A chest radiograph revealed patchy consolidations, plethora and a globular-enlarged heart silhouette.\u003c/p\u003e \u003cp\u003eUrgent transthoracic echocardiography \u003cb\u003e(\u003c/b\u003eFig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e\u003cb\u003e)\u003c/b\u003e using a GE vivid I portal machine with a 12S RS neonatal phase-array probe revealed situs ambiguous, levocardia. The patient had left isomerism with a mid-line liver and hepatic veins were seen draining directly into a single atrium. The inferior vena cava (IVC) was interrupted with azygos continuation and the azygos vein was seen draining directly into the superior vena cava (SVC). Pulmonary veins were noted to be draining into the left portion of the single atrium with no evidence to suggest pulmonary venous obstruction. There was a complete atrio-ventricular septal defect (AVSD-Rastelli type A), severe right atrioventricular valve regurgitation and moderate to severe left atrioventricular valve regurgitation. The patient had balanced ventricles with trabeculated and hypertrophied right ventricle as well as good biventricular systolic contractility. There were no left or right outflow tract obstruction. The pulmonary valve was dysplastic and doming with severe pulmonary stenosis (Vmax 4 m/s) and post-stenotic dilatation of the main pulmonary artery. The branch pulmonary arteries were confluent and good-sized. The aortic valve was tri-leaflet and coronary arteries were normal bilaterally. The ductus arteriosus was closed and the aortic arch was widely open with no evidence of coarctation.\u003c/p\u003e \u003cp\u003eOverall, an impression of left atrial isomerism with a single atrium, complete AVSD, and severe pulmonary stenosis was made. Captopril was cautiously added to the anti-failure regimen oxygen saturations in the mid-80s were deemed acceptable and oxygen was weaned off appropriately. The patient was discharged after 34 days of admission with a plan to have a computer tomography for further evaluation.\u003c/p\u003e \u003cp\u003eOutcome: she has continued to maintain improvement on an anti-failure regimen with adequate weight gain (8.6 kg at 10 months), no clinical features of cardiac decompensating and has attained appropriate developmental milestones. She is billed for surgical intervention.\u003c/p\u003e \u003cp\u003eAn Ultrasonogram of the abdomen further confirmed the situs ambiguous and also showed polycystic ovaries. Subsequent computed tomographic angiogram further revealed a complete absence of the inter-atrial septum with an enlarged common atrium \u003cb\u003e(\u003c/b\u003eFig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003e\u003cb\u003e).\u003c/b\u003e A defect of about 8mm was noted within the membranous interventricular septum. Right myocardial wall hypertrophy was also observed with marked stenosis of the right main pulmonary artery. No major aorto-pulmonary collaterals were noted. The Inferior vena cava and liver were observed to be on the left side of the abdomen \u003cb\u003e(\u003c/b\u003eFig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003e\u003cb\u003e).\u003c/b\u003e Two trunks are seen arising from the arch of the aorta consistent with a Type II branching pattern. A bilobed right lung was also noted as well as the left main bronchus originating inferior to the pulmonary artery, consistent with hyparterial bronchus. With regards to the thoracic wall, there was spina bifida noted from T4 \u0026ndash; T6 \u003cb\u003e(\u003c/b\u003eFig.\u0026nbsp;\u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e4\u003c/span\u003e\u003cb\u003e).\u003c/b\u003e\u003c/p\u003e \u003cp\u003eA final diagnosis of complex congenital heart disease: left atrial isomerism, complete AVSD with situs ambiguus and vertebral anomalies was made.\u003c/p\u003e \u003cp\u003eThe patient requires right heart catheterization to ascertain the pulmonary vascular resistance as well as its response to 100% oxygen or Nitric oxide as this determines operability. Should the patient be deemed operable, the surgical plan involves complete bi-ventricular repair under cardiopulmonary bypass. The strategy involves aortic and single-stage venous cannulation, the institution of cardiac arrest and cardiac electromechanical quiescence, right atriotomy, placement of cardiotomy suckers into the ostia of any hepatic veins seen draining into the atrium, repair of the atrioventricular canal defect (ensuring the competence of the atrioventricular valves), pulmonary valvotomy ensuring adequate valve opening for body surface area, and complete septation of the atrium (ensuring that blood from the four pulmonary veins is baffled into the left atrium and the systemic venous return and the coronary sinus drain into the right atrium). However, the patient is yet to have the planned right heart catheterization and definitive operation due to financial constraints.\u003c/p\u003e"},{"header":"3.0 DISCUSSION","content":"\u003cp\u003eCongenital heart disorders (CHD) are among the most common congenital malformations, consisting of a variety of cardiac and major vascular anomalies that are evident at birth.\u003csup\u003e\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e\u003c/sup\u003e In Ghana, Thomford et al conducted a study in a tertiary Hospital and found the common clinical signs and symptoms in patients being evaluated for congenital heart disease to include; dyspnea (6.4%), cyanosis (17.8%), coughing (10.2), fever (8.3%), murmur (3.8%), pallor (3.82%) and tachypnea (5.7%).\u003csup\u003e8\u003c/sup\u003e Some of these were observed in the index case. The commonest congenital heart disease in Nigeria from a study by Abdulkadir et al in Ilorin Nigeria, showed ventricular septal defect to have the largest proportion at 40.6% followed by patent ductus arteriosus at 18.4% and atrial septal defect at 11.3%.\u003csup\u003e5\u003c/sup\u003e In a study by Ekure et al in Lagos Nigeria, complete atrioventricular septal defect was observed in 8.6% of their participants with majority presenting in infancy.\u003csup\u003e\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e\u003c/sup\u003e The index patient also had complete AVSD and presented in infancy.\u003c/p\u003e \u003cp\u003eDuring embryological development, atrioventricular junction septation is brought about by down growth of the atrial septum primum, fusion of the endocardial cushions and forward expansion of the vestibular spine between atrial septum and cushions. Thus, atrioventricular canal can result from arrest or interruption of the normal endocardial cushion development.\u003csup\u003e\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e\u003c/sup\u003e The pathogenetic mechanisms causing the spectrum of cardiovascular defects found in left isomerism remain poorly understood.\u003csup\u003e\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e\u003c/sup\u003e\u003c/p\u003e \u003cp\u003eOur patient presented in heart failure which is one of the common presentation among children of African descent according to Namuyonga et al who carried out a 7 year review on pattern of congenital heart disease in children.\u003csup\u003e\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e\u003c/sup\u003e Abnormality of situs may coexist with congenital heart disease with an estimation of 1.1–1.2 per 10,000 live births.\u003csup\u003e\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e\u003c/sup\u003e Situs ambiguus was observed in our patient further reiterates the need to carefully and sequentially evaluate patients with congenital heart disease so as to avoid complications during management.\u003c/p\u003e \u003cp\u003eIn a study by Kocak et al in Turkey, they observed a prevalence of up to 27.8% of congenital heart disease among individuals with neural tube defect.\u003csup\u003e\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e\u003c/sup\u003e There is paucity of data/reports among black Africans regarding such association. However, spina bifida occulta was observed in the index case.\u003c/p\u003e \u003cp\u003ePrompt medical and surgical interventions are key for successful management of septal defect related congenital heart disease.\u003csup\u003e\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e\u003c/sup\u003e Such interventions are crucial especially if there is associated multiple anomalies and complication of heart failure similar to our index case.\u003c/p\u003e "},{"header":"4.0 CONCLUSION","content":"\u003cp\u003eWe have demonstrated in this case report that imaging is key in evaluation of congenital anomalies and especially those related to cardiovascular disorders. Also, multiple anomalies may coexist prompting further search in evaluating patients presenting with such conditions so as to achieve optimal and appropriate care even in resource limited setting faced with socio-economic challenges.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003e4.0 SOURCE OF FUNDING\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNone\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e5.0 ETHICAL CLEARANCE\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eEthical approval for the publication of this case report was obtained from the institutional ethics committee.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e6.0 CONSENT TO PUBLISH\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe patient's guardians provided written informed consent for the publication of this case report and accompanying images.\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eAhmad Bashir UMAR: Drafting of text (Introduction) and reviewing radiological images Abbas Rabiu MUHAMMAD: Drafting of text (Discussion) and reviewing radiological images Ikechukwuka Ifeanyichukwu ALIOKE: Surgeon in charge of clinical care of the patient. Also responsible for drafting of surgical information and management. Was responsible for obtaining informed consent. Niyi Mustapha ADEBIYI: Clinician in charge of the medical clinical care of the patient and also drafted the clinical information.Abdulmumin Ohida YAKUBU: Consultant Pediatric Cardiologist who conducted the echocardiography and also reviewed the manuscript All authors reviewed the manuscript\u003c/p\u003e\u003ch2\u003eAcknowledgement\u003c/h2\u003e\u003cp\u003eprofessor Anas Ismail, Department of Rdaiology, Aimu Kano Teaching Hospital, Kano\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eMashuda F, Zuechner A, Chalya PL, Kidenya BR, Manyama M. Pattern and factors associated with congenital anomalies among young infants admitted at Bugando medical centre, Mwanza, Tanzania. BMC research notes. 2014;7:1\u0026ndash;7.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eIyer PU, Moreno GE, Caneo LF, Faiz T, Shekerdemian LS, Iyer KS. Management of late presentation congenital heart disease. Cardiology in the Young. 2017;27(S6):S31-S9.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eEkure EN, Kalu N, Sokunbi OJ, Kruszka P, Olusegun-Joseph AD, Ikebudu D, et al. Clinical epidemiology of congenital heart disease in Nigerian children, 2012\u0026ndash;2017. Birth defects research. 2018;110(16):1233\u0026ndash;40.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eRoy K, Shahed H, Roy K, Sarah QS, Chowdhury NS. Clinical presentation and complications of different congenital heart disease in children. Am J Pediatr. 2020;6:481\u0026ndash;7.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAbdulkadir M, Abdulkadir Z. A systematic review of trends and patterns of congenital heart disease in children in Nigeria from 1964\u0026ndash;2015. African health sciences. 2016;16(2):367\u0026ndash;77.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eMocumbi AO, Lameira E, Yaksh A, Paul L, Ferreira MB, Sidi D. Challenges on the management of congenital heart disease in developing countries. International journal of cardiology. 2011;148(3):285\u0026ndash;8.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eZuechner A, Mhada T, Majani NG, Sharau GG, Mahalu W, Freund MW. Spectrum of heart diseases in children presenting to a paediatric cardiac echocardiography clinic in the Lake Zone of Tanzania: a 7 years overview. BMC Cardiovascular Disorders. 2019;19:1\u0026ndash;6.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eThomford NE, Biney RP, Okai E, Anyanful A, Nsiah P, Frimpong PG, et al. Clinical Spectrum of congenital heart defects (CHD) detected at the child health Clinic in a Tertiary Health Facility in Ghana: a retrospective analysis. Journal of Congenital Cardiology. 2020;4:1\u0026ndash;11.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eTulin R, Oprea S, Pantu C, Stanciulescu R, Andrei B, Jecan R, et al. THE EMBRYOLOGYCAL FEATURES OF ATRIOVENTRICULAR SEPTAL DEFECT DIAGNOSED IN THE FETAL LIFE.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eM\u0026auml;nner J. Spontaneous Left Cardiac Isomerism in Chick Embryos: Case Report, Review of the Literature, and Possible Significance for the Understanding of Ventricular Non-Compaction Cardiomyopathy in the Setting of Human Heterotaxy Syndromes. Journal of Cardiovascular Development and Disease. 2019;6(4):40.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eNamuyonga J, Lubega S, Aliku T, Omagino J, Sable C, Lwabi P. Pattern of congenital heart disease among children presenting to the Uganda Heart Institute, Mulago Hospital: a 7-year review. African health sciences. 2020;20(2):745\u0026ndash;52.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eThakur V, Jaeggi ET, Yoo S-J. Abnormal visceral and atrial situs and congenital heart disease. Fetal Cardiology: CRC Press; 2018. p. 257\u0026ndash;70.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eKo\u0026ccedil;ak G, \u0026Ouml;nal \u0026Ccedil;, Ko\u0026ccedil;ak A, Karakurt C, Ateş \u0026Ouml;, \u0026Ccedil;ayli SR, et al. Prevalence and outcome of congenital heart disease in patients with neural tube defect. Journal of child neurology. 2008;23(5):526\u0026ndash;30.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eRao PS, Harris AD. Recent advances in managing septal defects: ventricular septal defects and atrioventricular septal defects. F1000Research. 2018;7.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Complex congenital heart anomalies, Complete atrio-ventricular septal defect, Echocardiography, Pulmonary stenosis","lastPublishedDoi":"10.21203/rs.3.rs-5958670/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-5958670/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground:\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eCongenital anomalies are rare but can be extremely complex, presenting significant challenges for both diagnosis and treatment, especially in developing countries like Nigeria. These conditions often require precise imaging and a personalized approach to care.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCase Presentation:\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWe present the case of a 10-month-old infant with a rare combination of left atrial isomerism with a single atrium, complete atrioventricular septal defect (AVSD), and severe pulmonary stenosis, who presented with features of cardiac failure. Imaging played a crucial role in identifying the anomalies, guiding diagnosis, and informing management strategies. Despite financial constraints limiting surgical intervention, the patient continues to be managed with an anti-failure regimen.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusions:\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAdvanced imaging and a multidisciplinary approach are critical in managing congenital heart defects. This case highlights the importance of early detection and thorough evaluation, even in resource-limited settings, to optimize patient outcomes.\u003c/p\u003e","manuscriptTitle":"Complex congenital cardiac anomalies in an infant with Multi-system disorders presenting in Heart failure; A case report","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-02-11 10:21:31","doi":"10.21203/rs.3.rs-5958670/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"032a25be-e721-4fc5-b970-b2fbe238ab78","owner":[],"postedDate":"February 11th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2025-02-27T18:23:31+00:00","versionOfRecord":[],"versionCreatedAt":"2025-02-11 10:21:31","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-5958670","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-5958670","identity":"rs-5958670","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}