Clinical and Echocardiographic Profile of Pediatric Patients with Ventricular Septal Defect
Echocardiographic Profile of Pediatric Patients having Ventricular Septal Defect
DOI:
https://doi.org/10.54393/pjhs.v6i12.3316Keywords:
Ventricular Septal Defect, Congenital Heart Disease, Clinical Profile, EchocardiographyAbstract
Ventricular septal defect (VSD) is the most common congenital heart disease in children, contributing significantly to pediatric morbidity and mortality globally. In resource-limited settings like Pakistan, delayed diagnosis and limited access to pediatric cardiology services can exacerbate disease outcomes. Objectives: To evaluate the clinical presentation and echocardiographic profile of pediatric patients diagnosed with VSD at a tertiary care center in Pakistan. Methods: This retrospective, cross-sectional descriptive study was conducted at the Department of Pediatric Cardiology of the Peshawar Institute of Cardiology from July 1, 2025, to September 31, 2025. A total of 200 children under 18 years of age with echocardiographically confirmed VSD were included. Data on demographics, clinical symptoms, and physical examination findings were collected. Echocardiographic assessment was used to determine the size, type, and location of VSD, along with associated cardiac anomalies. Results: The median age at diagnosis was 9.4 months, with 78% diagnosed within the first year of life. The most common presenting feature was cardiac murmur (60%), followed by recurrent respiratory infections (49%), feeding problems (42.5%), and failure to thrive (38%). Perimembranous VSD was the most prevalent type (62%), followed by muscular (19%), inlet (10%), and outlet (9%) defects. Associated cardiac lesions included patent ductus arteriosus (18%), atrial septal defect (14%), aortic valve prolapse (11%), and pulmonary hypertension (24%). Conclusions: Early recognition and echocardiographic screening, especially in high-risk groups like children with Down syndrome, are essential to improving outcomes. These findings support the need for enhanced screening and resource allocation in pediatric cardiology services in Pakistan.
References
Cantinotti M, Di Salvo G, Voges I, Raimondi F, Greil G, Ortiz Garrido A et al. Standardization in Pediatric Echocardiographic Reporting and Critical Interpretation of Measurements, Functional Parameters, and Prediction Scores: A Clinical Consensus Statement of the European Association of Cardiovascular Imaging of the European Society of Cardiology and the Association for European Pediatric and Congenital Cardiology. European Heart Journal-Cardiovascular Imaging. 2024 Aug; 25(8): 1029-50. doi: 10.1093/ehjci/jeae147. DOI: https://doi.org/10.1093/ehjci/jeae147
Fogel MA, Anwar S, Broberg C, Browne L, Chung T, Johnson T et al. Society for Cardiovascular Magnetic Resonance/European Society of Cardiovascular Imaging/American Society of Echocardiography/Society for Pediatric Radiology/North American Society for Cardiovascular Imaging Guidelines for the Use of Cardiac Magnetic Resonance in Pediatric Congenital and Acquired Heart Disease: Endorsed by the American Heart Association. Circulation: Cardiovascular Imaging. 2022 Jun; 15(6): e014415. doi: 10.1161/CIRCIMAGING.122.014415. DOI: https://doi.org/10.1161/CIRCIMAGING.122.014415
LeWinn KZ, Karr CJ, Hazlehurst M, Carroll K, Loftus C, Nguyen R et al. Cohort Profile: The ECHO Prenatal and Early Childhood Pathways to Health Consortium (ECHO-PATHWAYS). British Medical Journal Open. 2022 Oct; 12(10): e064288. doi: 10.1136/bmjopen-2022-064288. DOI: https://doi.org/10.1136/bmjopen-2022-064288
Bhardwaj R, Rai SK, Yadav AK, Lakhotia S, Agrawal D, Kumar A et al. Epidemiology of Congenital Heart Disease in India. Congenital Heart Disease. 2015 Sep; 10(5): 437-46. doi: 10.1111/chd.12220. DOI: https://doi.org/10.1111/chd.12220
Bano S, Akhtar S, Khan U. Pediatric Congenital Heart Diseases: Patterns of Presentation to the Emergency Department of a Tertiary Care Hospital. Pakistan Journal of Medical Sciences. 2020 Mar; 36(3): 333. doi: 10.12669/pjms.36.3.1592. DOI: https://doi.org/10.12669/pjms.36.3.1592
Sirico D, Basso A, Reffo E, Cavaliere A, Castaldi B, Sabatino J et al. Early Echocardiographic and Cardiac MRI Findings in Multisystem Inflammatory Syndrome in Children. Journal of Clinical Medicine. 2021 Jul; 10(15): 3360. doi: 10.3390/jcm10153360. DOI: https://doi.org/10.3390/jcm10153360
Ivy D, Rosenzweig EB, Abman SH, Beghetti M, Bonnet D, Douwes JM et al. Embracing the Challenges of Neonatal and Pediatric Pulmonary Hypertension. European Respiratory Journal. 2024 Oct; 64(4). doi: 10.1183/13993003.01345-2024. DOI: https://doi.org/10.1183/13993003.01345-2024
Chowdhury UK, Anderson RH, Spicer DE, Sankhyan LK, George N, Pandey NN et al. A review of the Therapeutic Management of Multiple Ventricular Septal Defects. Journal of Cardiac Surgery. 2022 May; 37(5): 1361-76. doi: 10.1111/jocs.16289. DOI: https://doi.org/10.1111/jocs.16289
Alhuzaimi AN, Alotaibi NM, Alsuhaibani GI, Alanazi RK, Temsah MH. Congenital Heart Defect and Pulmonary Hypertension in Children with Down Syndrome: Clinical Profile Over Two Decades. Cureus. 2021 Feb; 13(2). doi: 10.7759/cureus.13212. DOI: https://doi.org/10.7759/cureus.13212
Javed S, Bajwa TH, Bajwa MS, Shah SS. Current status of Pediatric Cardiac Surgery in Pakistan. Annals of King Edward Medical University. 2021 Jul; 27(2). doi: 10.21649/akemu.v27i2.4542. DOI: https://doi.org/10.21649/akemu.v27i2.4542
Hopper RK, Hansmann G, Hollander SA, Dipchand AI, van der Have O, Iler C et al. Clinical Management and Transplant Considerations in Pediatric Pulmonary Hypertension Due to Left Heart Disease: A Scientific Statement from the American Heart Association. Circulation: Heart Failure. 2025 Jan; 18(1): e000086. doi: 10.1161/HHF.0000000000000086. DOI: https://doi.org/10.1161/HHF.0000000000000086
Galzerano D, Pergola V, Eltayeb A, Ludovica F, Arbili L, Tashkandi L et al. Echocardiography in Simple Congenital Heart Diseases: Guiding Adult Patient Management. Journal of Cardiovascular Echography. 2023 Oct; 33(4): 171-82. doi: 10.4103/jcecho.jcecho_52_23. DOI: https://doi.org/10.4103/jcecho.jcecho_52_23
Pang C, Wang Y, Shen J, Yang L, Li Y, Pan W. Echocardiographic Characteristics and Clinical Outcomes in Fetuses with Pulmonary Stenosis or Pulmonary Atresia with Intact Ventricular Septum. Pediatrics and Neonatology. 2024 Jul; 65(4): 328-35. doi: 10.1016/j.pedneo.2023.05.010. DOI: https://doi.org/10.1016/j.pedneo.2023.05.010
Dodge-Khatami J and Adebo DA. Evaluation of Complex Congenital Heart Disease in Infants Using Low-Dose Cardiac Computed Tomography. The International Journal of Cardiovascular Imaging. 2021 Apr; 37(4): 1455-60. doi: 10.1007/s10554-020-02118-7. DOI: https://doi.org/10.1007/s10554-020-02118-7
Jat NK, Bhagwani DK, Bhutani N, Sharma U, Sharma R, Gupta R. Assessment of the Prevalence of Congenital Heart Disease in Children with Pneumonia in A Tertiary Care Hospital: A Cross-Sectional Study. Annals of Medicine and Surgery. 2022 Jan; 73: 103111. doi: 10.1016/j.amsu.2021.103111. DOI: https://doi.org/10.1016/j.amsu.2021.103111
Guerin S, Bertille N, Khraiche D, Bonnet D, Lebourgeois M, Goffinet F et al. Respiratory Morbidity in Children with Congenital Heart Disease. Archives de Pédiatrie. 2021 Oct; 28(7): 525-9. doi: 10.1016/j.arcped.2021.07.003. DOI: https://doi.org/10.1016/j.arcped.2021.07.003
Jones CE, Desai H, Fogel JL, Negrin KA, Torzone A, Willette S et al. Disruptions in the Development of Feeding for Infants with Congenital Heart Disease. Cardiology in the Young. 2021 Apr; 31(4): 589-96. doi: 10.1017/S1047951120004382. DOI: https://doi.org/10.1017/S1047951120004382
Li YF, Chen ZW, Xie ZF, Wang SS, Xie YM, Zhang ZW. Recent Development of Biodegradable Occlusion Devices for Intra-Atrial Shunts. Reviews in Cardiovascular Medicine. 2024 May; 25(5): 159. doi: 10.31083/j.rcm2505159. DOI: https://doi.org/10.31083/j.rcm2505159
Faherty E, Rajagopal H, Lee S, Love B, Srivastava S, Parness IA et al. Correlation of Transthoracic Echocardiography-Derived Pulmonary to Systemic Flow Ratio with Hemodynamically Estimated Left to Right Shunt in Atrial Septal Defects. Annals of Pediatric Cardiology. 2022 Jan; 15(1): 20-6. doi: 10.4103/apc.apc_139_21. DOI: https://doi.org/10.4103/apc.apc_139_21
Delany DR, Gaydos SS, Romeo DA, Henderson HT, Fogg KL, McKeta AS et al. Down Syndrome and Congenital Heart Disease: Perioperative Planning and Management. Journal of Congenital Cardiology. 2021 Apr; 5(1): 7. doi: 10.1186/s40949-021-00061-3. DOI: https://doi.org/10.1186/s40949-021-00061-3
Laha S, Gangopadhyay D, Roy M, Singh A, Nandi D, Dutta J. Procedural Outcomes of Percutaneous Closure of Perimembranous and Other Ventricular Septal Defects Using Konar-MF Occluder and Short-Term Follow-Up. Annals of Pediatric Cardiology. 2024 Mar; 17(2): 101-8. doi: 10.4103/apc.apc_201_23. DOI: https://doi.org/10.4103/apc.apc_201_23
Kishore S, Kumar M, Kumar A, Gupta A, Chandan C, Anshuman A et al. Clinical and Echocardiographic Profile of Congenital Heart Diseases in the 0-12-Year Age Group in A Tertiary Care Medical Institute in Eastern India: A Retrospective, Cross-Sectional Study. Cureus. 2022 Jun; 14(6). doi: 10.7759/cureus.26114. DOI: https://doi.org/10.7759/cureus.26114
Song L, Wang Y, Wang H, Wang G, Ma N, Meng Q et al. Clinical Profile of Congenital Heart Diseases Detected in A Tertiary Hospital in China: A Retrospective Analysis. Frontiers in Cardiovascular Medicine. 2023 Sep; 10: 1131383. doi: 10.3389/fcvm.2023.1131383. DOI: https://doi.org/10.3389/fcvm.2023.1131383
Parvar SY, Ghaderpanah R, Naghshzan A. Prevalence of Congenital Heart Disease According to the Echocardiography Findings in 8145 Neonates, Multicenter Study in Southern Iran. Health Science Reports. 2023 Apr; 6(4): e1178. doi: 10.1002/hsr2.1178. DOI: https://doi.org/10.1002/hsr2.1178
Marmech E, Barkallah O, Selmi I, Ben Hamida N, Guizani A, Ouerda H et al. Congenital Heart Disease: Epidemiological, Genetic and Evolutive Profil. La Tunisie medicale. 2024 Sep; 102(9): 576-81. doi: 10.62438/tunismed.v102i9.5060. DOI: https://doi.org/10.62438/tunismed.v102i9.5060
Alvarez-Santana R, Escudero-Salamanca M, Garcia-Diaz JA, Espinola-Zavaleta N. Multi-hole Atrial Septal Defect: A Diagnostic and Therapeutic Challenge. Clinical Research. 2020; 6: 1-3. doi: 10.15761/CRT.1000300. DOI: https://doi.org/10.15761/CRT.1000300
Sadiq M, Qureshi AU, Younas M, Arshad S, Hyder SN. Percutaneous Closure of Ventricular Septal Defect Using Lifetechtm Konar-MF VSD Occluder: Initial and Short-Term Multi-Institutional Results. Cardiology in the Young. 2022 May; 32(5): 755-61. doi: 10.1017/S1047951121002985. DOI: https://doi.org/10.1017/S1047951121002985
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