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Clinical Spectrum of Congenital Heart Defects (CHD)

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Clinical Spectrum of Congenital Heart Defects (CHD) Thomford et al. Journal of Congenital Cardiology (2020) 4:3 Journal of https://doi.org/10.1186/s40949-020-00034-y Congenital Cardiology RESEARCH ARTICLE Open Access Clinical Spectrum of congenital heart defects (CHD) detected at the child health Clinic in a Tertiary Health Facility in Ghana: a retrospective analysis Nicholas Ekow Thomford1,2* , Robert Peter Biney3, Emmanuel Okai4, Akwasi Anyanful2, Paul Nsiah5, Prosperity G. Frimpong2, Dominic O. Boakye2, Charles A. Adongo6, Paul Kruszka7 and Ambroise Wonkam1 Abstract Background: Congenital heart defects (CHD) are the singular most common congenital anomalies and account for a significant fraction of childhood mortality and morbidity. CHD occurs in ~ 1% of livebirths globally and often requires surgical interventions to improve quality of life and survival of patients. The prevalence and clinical presentations of CHD within specific populations provide a clearer overview of the burden of CHD and informs appropriate interventions. However, there is limited data on clinical presentation and occurrence of CHD in African countries such as Ghana where most cases are either diagnosed late or missed entirely resulting in increased mortality. In this retrospective study, we assessed the clinical presentations, associated comorbidities, and prescription patterns of diagnosed CHD in a tertiary facility in Ghana. Method: This retrospective study utilized data from electronic health records (EHR) from the child health clinic of the Cape Coast Teaching Hospital - a tertiary health facility in Ghana from January 2018 to October 2019. All suspected or provisionally diagnosed cases including those confirmed with echocardiography were included in our analysis. Results: Over 10, 000 records were reviewed, CHD was diagnosed in 79 cases, and 51 cases had complete clinical records including the type of CHD and clinical presentation. Male to female ratio was approximately 1:1 and 77.2% of the diagnoses were in children below 5 years. Acyanotic congenital heart defects were most commonly diagnosed with ventricular septal defects (VSD) and patent ductus arteriosus (PDA) being the simplest singular CHD. Tetralogy of Fallot, was the most common complex CHD accounting for 25.5% (13) of cases. Bronchopneumonia, upper respiratory infections and pneumonia were the most commonly diagnosed comorbidities accounting for over 35% of non-cardiac sequalae based on antibiotic and diuretic use. (Continued on next page) * Correspondence: [email protected] 1Division of Human Genetics, Department of Pathology and Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Anzio Road, Observatory, 7925 Cape Town, South Africa 2Department of Medical Biochemistry, School of Medical Sciences, College of Health and Allied Sciences, University of Cape Coast, PMB, Cape Coast, Ghana Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. Thomford et al. Journal of Congenital Cardiology (2020) 4:3 Page 2 of 11 (Continued from previous page) Conclusion: Our study showed that over 75% of CHD cases were diagnosed under 5 years with VSD and TOF being the most commonly diagnosed acyanotic and cyanotic lesions, respectively. This study presents preliminary data that give an overview of CHD burden in Ghana that will inform future research and appropriate interventions. Keywords: Congenital heart defects, Cardiovascular complications, Ventricular septal defect, Clinical presentation, Ghana, Tetralogy of Fallot Background and phenotype from tertiary facilities in Ghana. For Congenital heart defects (CHD) are the most common these reasons, we therefore conducted a retrospective congenital birth defects affecting 1–2% of all live births study to determine the spectrum and clinical presenta- globally with an estimated incidence of 8–10/1000 live tions of CHD among children receiving care at the Cape births [1–3]. There are regional differences in prevalence Coast Teaching Hospital (CCTH), Cape Coast, Ghana. and incidence due to genomic, clinical and environmen- This is the largest tertiary facility providing specialized tal factors [4, 5]. CHD is defined by structural and func- services to the Western and Central regions of Ghana. tional malformations of the heart which if not managed Results from our study will help will provide the baseline through appropriate interventions affects quality of life data that can inform designing genomics and molecular of the individual and potential premature death. Early studies aimed at understanding the CHD burden and detection, diagnosis and prompt interventions result in profile in Ghana. This study will also facilitate a registry significantly decreased morbidity and mortality [6, 7]. for CHD with the goal of increased monitoring and The estimated incidence of CHD is similar across all better management. countries globally [1, 8]; however, CHD data for African countries is sparse and needed [4]. CHD malformations Methods occur as single lesions or in combination with other This hospital based retrospective study was conducted at heart defects [9]. Commonly diagnosed CHD lesions the Cape Coast Teaching Hospital (CCTH), Cape Coast, isolated or single lesions include atrial septal defects Ghana. The facility is a referral center with a 400-bed (ASD), ventricular septal defects (VSD), and pulmonary capacity and offers echocardiography services three stenosis (PS). Complex or combination lesions include times in a week which is not covered by the National atrioventricular septal defects (AVSD), tetralogy of Fallot Health Insurance Scheme (NHIS) of Ghana. CCTH sees (TOF), and transposition of the great arteries (TGA) [9– to approximately 3000 children annually. The hospital 11]. TOF and TGA are the two most common cyanotic upgraded its patient’s records system to an electronic CHD conditions that result in oxygen saturation below health records (EHR) system in January 2018 where pa- 90%. Majority of septal defects such as VSD, ASD and tient data such as age, gender, clinic visited, diagnosis, AVSD are classified as acyanotic CHD lesions with oxy- medication and laboratory investigations are recorded gen saturation normally above 95%. and stored digitally. Between the period of January 2018 Congenital heart defects are commonly associated with and October 2019, electronic health records of children genetic syndromes including but not limited to Down between the ages of 0–16 years who presented at the syndrome, Turner syndrome, 22q11.2 deletion syn- child health clinic were queried. Data on analysis fo- drome, 1p36 deletion syndrome and Noonan syndrome. cused on patients who had undergone echocardiography Most often, CHD is sporadic, not associated with a syn- and also had history and exam information available. drome, and of unknown etiology. Few CHD studies have been published in Ghana [12, 13], and the rare reported Data extracted cases do not include prevalence data, which is important Data extracted from the EHR included age, clinical pres- to low resource countries such as Ghana where very few entation, CHD type, national health insurance status, pre- children with CHD get detected early and receive timely scribed medication, comorbidities and oxygen saturation corrective surgery [14–16]. Due to delayed diagnosis and profile. Patients with incomplete data were excluded. intervention, these children may develop complications such as heart failure, severe cyanosis and other long- Data analysis term sequelae [17–19]. Other non-cardiac complications Statistical analysis was performed with STATA Statis- arise from infections, malnutrition and adverse events tical Software: Release 15 (StataCorp. 2017) and from administered medications [20–22]. Clearly, there is GraphPad prism 8 (GraphPad Software, San Diego a need for data on clinical presentation, CHD severity California, USA). Thomford et al. Journal of Congenital Cardiology (2020) 4:3 Page 3 of 11 Results studies (Table 4). Some multiple CHDs were reported Patients characteristics for the first time whiles other already reported had lower Table 1 shows the patient characteristics. There a total prevalence. However, one thing that stands out is the of over 10,000 hospital visits at the child health clinic significance of TOF prevalence in these developing and seventy-nine children diagnosed with CHD by a car- countries where these studies were conducted. diologist were included in this study. From the 79 diag-
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