Impact of Familial Congenital Heart Disease on the Clinical Phenotype of Ventricular Septal Defect in Iraqi Patients

Ahmed  Rahi Jasim; Reza   Safaralizadeh; Mohammadali  Hosseinpour Feizi; Thekra Abid  Jabar Al-Kashwan; Wadhah Mahbuba

Authors

Ahmed Rahi Jasim Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran Author https://orcid.org/0000-0003-1323-2110
Reza Safaralizadeh Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran Author https://orcid.org/0000-0002-6970-6998
Mohammadali Hosseinpour Feizi Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran Author https://orcid.org/0000-0002-1508-5022
Thekra Abid Jabar Al-Kashwan Department of Thoracic and Cardiovascular Surgery, College of Medicine, University of Kufa, Najaf, Iraq Author https://orcid.org/0000-0003-3302-8889
Wadhah Mahbuba Department of Thoracic and Cardiovascular Surgery, College of Medicine, University of Kufa, Najaf, Iraq Corresponding Author https://orcid.org/0000-0002-1865-0162

Keywords:

ventricular septal defect (VSD), body mass index (BMI), echocardiography (Echo)

Abstract

Ventricular septal defect (VSD) is the most common type of cardiovascular malformation and a major risk factor for increased morbidity and mortality in newborns. Accumulating evidence and previous studies have pointed to genetic defects in its developmental mechanism. However, due to the genetic diversity of this defect, the genetic factors contributing to its clinical presentation in the majority of patients remain unknown. This pilot study will describe the impact of a family history of congenital heart disease on the clinical presentation of patients with VSD. Patients and Methodology: Data were proactively collected from 100 patients at the Najaf Heart Center, Najaf, Iraq, who underwent surgical closure of a VSD. These factors included age, weight, height, and the size and location of the VSD. The data were used to differentiate between two groups (patients with a family history versus patients without a family history). Results: 77% of patients had no family history of VSD, while 23% had a family history. Body mass index (BMI) was lower in patients without a family history compared to those with a family history (17.75 ± 7.4 vs. 21.59 ± 11.15). Patients without a family history underwent surgery at a younger age than those with a family history (7.13 ± 8.32 vs. 8.52 ± 11.14). Subaortic and muscular ventricular septal defects were more common in patients without a family history, while subpulmonary and surgical ventricular septal defects were more common in patients with a family history of ventricular septal defects. The results also showed that the group of patients without a family history of congenital heart disease had a higher percentage of small ventricular septal defects (27.27%) compared to the group of patients with a positive family history (30.43%). Furthermore, a higher incidence of large ventricular septal defects was observed in patients with a family history of the disease, although most p-values were not statistically significant (p > 0.05). In conclusion, based on these results, patients with a family history of ventricular septal defects may experience fewer symptoms, while patients without such a history may exhibit a more severe clinical course and require earlier surgical intervention, indicating no statistically significant differences in the outcomes obtained.

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References

1. Hoffman JIE, Kaplan S. The Incidence Of Congenital Heart Disease. Journal of the American College of Cardiology. 2002;39(12):1890-900. [PMID: 12084585]

2. Pei L, Kang Y, Zhao Y, Yan H. Prevalence And Risk Factors Of Congenital Heart Defects Among Live Births: A Population-Based Cross-Sectional Survey In Shaanxi Province, Northwestern China. BMC Pediatrics. 2017;17(1):18. [PMID: 28086762] [PMCID: PMC5237335]

3. Penny DJ, Vick GW, Iii. Ventricular Septal Defect. The Lancet. 2011;377(9771):1103-12. [PMID: 33327983]

4. Adan A, Eleyan L, Zaidi M, Ashry A, Dhannapuneni R, Harky A. Ventricular Septal Defect: Diagnosis And Treatments In The Neonates: A Systematic Review. Cardiology in the Young. 2021;31(5):756-61. [PMID: 33327983]

5. Becker AE, Anderson RH. Cardiac Pathology. Edinburgh: Churchill Livingstone; 1982.

6. Ammash NM, Warnes CA. Ventricular Septal Defects In Adults. Annals of Internal Medicine. 2001;135(9):812-24. [PMID: 11694106]

7. Tobler D, Greutmann M. Simple Cardiac Shunts In Adults: Atrial Septal Defects, Ventricular Septal Defects, Patent Ductus Arteriosus. Heart. 2020;106(4):307-14. [PMID: 31911502]

8. Miyamoto M, Gangrade H, Tampakakis E. Understanding Heart Field Progenitor Cells For Modeling Congenital Heart Diseases. Current Cardiology Reports. 2021;23(5):38. [PMID: 33694131]

9. George RM, Firulli AB. Hand Factors In Cardiac Development. Anatomical Record (Hoboken). 2019;302(1):101-7. [PMID: 30288953] [PMCID: PMC6312500]

10. Greulich F, Rudat C, Kispert A. Mechanisms Of T-Box Gene Function In The Developing Heart. Cardiovascular Research. 2011;91(2):212-22. [PMID: 21498422]

11. Furtado MB, Biben C, Shiratori H, Hamada H, Harvey RP. Characterization Of Pitx2C Expression In The Mouse Heart Using A Reporter Transgene. Developmental Dynamics. 2011;240(1):195-203. [PMID: 21089073]

12. Blue GM, Kirk EP, Sholler GF, Harvey RP, Winlaw DS. Congenital Heart Disease: Current Knowledge About Causes And Inheritance. Medical Journal of Australia. 2012;197(3):155-9. [PMID: 22860792]

13. Zhao L, Zeng L, Yi M, Yuan W. Early Neonatal Diagnosis Of Ssr4-Related Congenital Disorder Of Glycosylation With Severe Congenital Heart Defects: A Case Report And Systematic Review. Frontiers in Pediatrics. 2026;14. [PMID: 41960028] [PMCID: PMC13057274]

14. Khalid R, Fadl‐Elmula I. Cat Eye Syndrome In A Sudanese Infant: Congenital Cataract In The Absence Of Iris Coloboma: A Case Report. Clinical Case Reports. 2026;14(6). [PMID: 42290820] [PMCID: PMC13253980]

15. Moady TA, Hershkovitz T, Habib C, Attias O, Hadash A, Tal G, et al. Impact Of Rapid Exome Sequencing On Pediatric Patients With Cardiomyopathy And Acute Heart Failure. American Journal of Medical Genetics Part A. 2026;200(6):1222-30. [PMID: 41572441]

16. Wang T, Zhao W, Wu L, Ying Q, Zhu W, Teng Y, et al. Early-Onset Restrictive Cardiomyopathy With Life-Threatening Arrhythmia Caused By A Homozygous Desmin Mutation: A Case Report. BMC Pediatrics. 2025;25(1). [PMID: 40604581] [PMCID: PMC12220234]

17. Wang J, Li H, Li Y, Mao Z, Zhu Y, Qi M, et al. Case Report: Lethal Neonatal Hypertrophic Cardiomyopathy From Compound Heterozygous Mybpc3 Variants. Frontiers in Cardiovascular Medicine. 2025;12. [PMID: 41488457] [PMCID: PMC12756370]

18. Chaudhry TA, Younas M, Baig A. Ventricular Septal Defect And Associated Complications. Journal of the Pakistan Medical Association. 2011;61(10):1001-4.

19. Ghosh S, Sridhar A, Solomon N, Sivaprakasham M. Transcatheter Closure Of Ventricular Septal Defect In Aortic Valve Prolapse And Aortic Regurgitation. Indian Heart Journal. 2018;70(4):528-32. [PMID: 30170648] [PMCID: PMC6117845]

20. Durden RE, Turek JW, Reinking BE, Bansal M. Acquired Ventricular Septal Defect Due To Infective Endocarditis. Annals of Pediatric Cardiology. 2018;11(1):100-2. [PMID: 29440841] [PMCID: PMC5803962]

21. Schipper M, Slieker MG, Schoof PH, Breur JMPJ. Surgical Repair Of Ventricular Septal Defect: Contemporary Results And Risk Factors For A Complicated Course. Pediatric Cardiology. 2017;38(2):264-70. [PMID: 27872996] [PMCID: PMC5331080]

22. Muthialu N, Balakrishnan S, Sundar R. Single Patch Closure Of Multiple Vsds Through Right Atrial Approach. Indian Heart Journal. 2018;70(4):578-9. [PMID: 30170657] [PMCID: PMC6117800]

23. Kenny D. Interventional Cardiology For Congenital Heart Disease. Korean Circulation Journal. 2018;48(5):350-64. [PMID: 29671282] [PMCID: PMC5940641]

24. Hopkins MK, Goldstein SA, Ward CC, Kuller JA. Evaluation And Management Of Maternal Congenital Heart Disease: A Review. Obstetrical & Gynecological Survey. 2018;73(2):116-24. [PMID: 29480926]

25. Aoki H, Horie M. Electrical Disorders In Atrial Septal Defect: Genetics And Heritability. Journal of Thoracic Disease. 2018;10(Suppl 24):S2848-S53. [PMID: 30305944] [PMCID: PMC6174139]

26. Manuel V, Morais H, Manuela A, David B, Gamboa S. Ventricular Septal Defect In Children And Adolescents In Angola: Experience Of A Tertiary Center. Revista Portuguesa de Cardiologia. 2014;33(10):637-40. [PMID: 25300857]

27. Vora V, Goja S, Harikrishnan R, Devagourou V, S VK. Navigating Anatomic Complexities: Ventricular Septal Defect Closure In An Infant With Right Lung Agenesis And Extreme Dextroversion. World Journal for Pediatric and Congenital Heart Surgery. 2026;17(5):683-6. [PMID: 41637242]

28. Hong F, Cai W, Li J, Chen M, Liu Y, Mei J. Pulmonary Sequestration With A Rare Renal Artery Subtype: A Comprehensive Clinicopathological Analysis Of 20 Pediatric Cases. BMC Pulmonary Medicine. 2026;26(1). [PMID: 42046053] [PMCID: PMC13251307]

29. Meng L, Gao Q, Du Z, Yang P, Zong L, Lv B, et al. Pulmonary Artery Banding For Dilated Cardiomyopathy In Children: Report Of 3 Cases. BMC Pediatrics. 2025;25(1). [PMID: 40616035] [PMCID: PMC12232034]