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Cardiology563 papers

Cardiac septal defects

Last edited: 4/14/2026

Overview

Cardiac septal defects (CSDs) are congenital anomalies characterized by abnormal openings in the walls (septa) that separate the heart's chambers, potentially leading to hemodynamic disturbances and various clinical presentations depending on defect size and location.

Diagnosis

  • Clinical Presentation: Symptoms may include dyspnea, fatigue, and heart murmurs 14.
  • Echocardiography: Essential for diagnosis, delineating defect size, location, and hemodynamic impact 14.
  • Chest X-ray: Can show characteristic findings like enlarged cardiac silhouette 14.
  • Electrocardiogram (ECG): Reveals signs of volume overload or conduction abnormalities 14.
  • Cardiac MRI/CT: Provides detailed anatomical assessment, particularly useful for complex cases 14.

    • Management

  • Surgical Repair: First-line treatment for symptomatic defects or those at risk of complications; techniques include open-heart surgery and transcatheter interventions 14.
  • Medical Management: Includes management of symptoms and comorbidities; anticoagulation may be necessary in specific cases 14.
  • Follow-Up: Regular echocardiograms to monitor defect closure and detect potential complications 14.

    • Special Populations

  • Pregnancy: Maternal exposure to environmental factors like air pollution may influence offspring health outcomes, warranting careful monitoring 12.
  • Pediatrics: Early intervention is crucial; multidisciplinary care teams often manage pediatric cases 14.
  • Comorbidities: Presence of other congenital anomalies or genetic syndromes may influence management strategies 1623.

    • Key Recommendations

  • Echocardiography as Primary Diagnostic Tool: Essential for accurate diagnosis and assessment of CSDs 14 (Evidence: Strong).
  • Surgical Intervention for Symptomatic Defects: Recommended for symptomatic patients or those with significant hemodynamic abnormalities 14 (Evidence: Strong).
  • Monitor Environmental Exposures in Pregnant Women: Consider potential impacts of preconception and prenatal environmental exposures on fetal cardiac development 12 (Evidence: Moderate).
  • Comprehensive Family History Assessment: Important for identifying genetic predispositions and guiding risk assessment 15 (Evidence: Moderate).

    • References

    1 Blanc N, Liao J, Gilliland F, Zhang JJ, Berhane K, Huang G et al.. A systematic review of evidence for maternal preconception exposure to outdoor air pollution on Children's health. Environmental pollution (Barking, Essex : 1987) 2023. link 2 Kishi R, Ikeda-Araki A, Miyashita C, Itoh S, Kobayashi S, Ait Bamai Y et al.. Hokkaido birth cohort study on environment and children's health: cohort profile 2021. Environmental health and preventive medicine 2021. link 3 Golder S, Chiuve S, Weissenbacher D, Klein A, O'Connor K, Bland M et al.. Pharmacoepidemiologic Evaluation of Birth Defects from Health-Related Postings in Social Media During Pregnancy. Drug safety 2019. link 4 Rogers JR, Sarpatwari A, Desai RJ, Bohn JM, Khan NF, Kesselheim AS et al.. Effect of Lawyer-Submitted Reports on Signals of Disproportional Reporting in the Food and Drug Administration's Adverse Event Reporting System. Drug safety 2019. link 5 Ramuta TŽ, Kreft ME. Human Amniotic Membrane and Amniotic Membrane-Derived Cells: How Far Are We from Their Use in Regenerative and Reconstructive Urology?. Cell transplantation 2018. link 6 Hashemi H, Asgari S, Shahhoseini S, Mahbod M, Atyabi F, Bakhshandeh H et al.. Application of polycaprolactone nanofibers as patch graft in ophthalmology. Indian journal of ophthalmology 2018. link 7 Zhong N, Zhao X. 3D printing for clinical application in otorhinolaryngology. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2017. link 8 Kharbanda EO, Vazquez-Benitez G, Romitti PA, Naleway AL, Cheetham TC, Lipkind HS et al.. Identifying birth defects in automated data sources in the Vaccine Safety Datalink. Pharmacoepidemiology and drug safety 2017. link 9 Moro PL, Cragan J, Lewis P, Sukumaran L. Major Birth Defects after Vaccination Reported to the Vaccine Adverse Event Reporting System (VAERS), 1990 to 2014. Birth defects research 2017. link 10 McCall K, Hussin HM, Gregory ME, Dutton G, Richardson J. A bundle improves eye care in PICU. Archives of disease in childhood 2016. link 11 Billington CJ, Schmidt B, Zhang L, Hodges JS, Georgieff MK, Schotta G et al.. Maternal diet supplementation with methyl donors and increased parity affect the incidence of craniofacial defects in the offspring of twisted gastrulation mutant mice. The Journal of nutrition 2013. link 12 Colvin L, Slack-Smith L, Stanley FJ, Bower C. Linking a pharmaceutical claims database with a birth defects registry to investigate birth defect rates of suspected teratogens. Pharmacoepidemiology and drug safety 2010. link 13 Verret C, Jutand MA, De Vigan C, Bégassat M, Bensefa-Colas L, Brochard P et al.. Reproductive health and pregnancy outcomes among French gulf war veterans. BMC public health 2008. link 14 Pallasch TJ. Perspectives on the 2007 AHA Endocarditis Prevention Guidelines. Journal of the California Dental Association 2007. link 15 Dolan SM, Moore C. Linking family history in obstetric and pediatric care: assessing risk for genetic disease and birth defects. Pediatrics 2007. link 16 Prescott KR, Wilkie AO. Genetic aspects of birth defects: new understandings of old problems. Archives of disease in childhood. Fetal and neonatal edition 2007. link 17 Jay PY, Berul CI, Tanaka M, Ishii M, Kurachi Y, Izumo S. Cardiac conduction and arrhythmia: insights from Nkx2.5 mutations in mouse and humans. Novartis Foundation symposium 2003. link 18 Hoyert DL. Mortality associated with birth defects: influence of successive disease classification revisions. Birth defects research. Part A, Clinical and molecular teratology 2003. link 19 Kutcher JS, Engle A, Firth J, Lamm SH. Bendectin and birth defects. II: Ecological analyses. Birth defects research. Part A, Clinical and molecular teratology 2003. link 20 Botto LD, Erickson JD, Mulinare J, Lynberg MC, Liu Y. Maternal fever, multivitamin use, and selected birth defects: evidence of interaction?. Epidemiology (Cambridge, Mass.) 2002. link 21 Sulamanidze MA, Salti G, Mascetti M, Sulamanidze GM. Wire scalpel for surgical correction of soft tissue contour defects by subcutaneous dissection. Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 2000. link 22 Katz EA, Shaw GM, Schaffer DM. Exposure assessment in epidemiologic studies of birth defects by industrial hygiene review of maternal interviews. American journal of industrial medicine 1994. link 23 Fryns JP, Kleczkowska A, Fivez H, Van den Berghe H. Severe midline fusion defects in a newborn with 10q26----qter deletion. Annales de genetique 1989. link 24 Lumley J, Palma S, Fischer M, Robertson H. The tip of the iceberg: a validation study of the Victorian Congenital Malformations/Birth Defects Register. Australian paediatric journal 1988. link 25 Casamassima AC, Mamunes P, Gladstone IM, Solomon S, Moncure C. A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects. American journal of medical genetics 1987. link 26 Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. Journal of the American Academy of Dermatology 1987. link80249-9) 27 Kirkham J. Spurious high birth defect rate on the island of Lanai and an unexpected indication of a high incidence of adverse pregnancy outcomes in Kohala on the Big Island. R & S report. Hawaii. Department of Health. Research and Statistics Office 1986. link 28 Kurppa K, Holmberg PC, Rantala K, Nurminen T, Saxén L. Birth defects and exposure to video display terminals during pregnancy. A Finnish case-referent study. Scandinavian journal of work, environment & health 1985. link 29 Bowman KJ. A method for quantitative scoring of the Farnsworth Panel D-15. Acta ophthalmologica 1982. link

    Original source

    1. [1]
      A systematic review of evidence for maternal preconception exposure to outdoor air pollution on Children's health. — Blanc N, Liao J, Gilliland F, Zhang JJ, Berhane K, Huang G et al. Environmental pollution (Barking, Essex : 1987) (2023)
    2. [2]
      Hokkaido birth cohort study on environment and children's health: cohort profile 2021. — Kishi R, Ikeda-Araki A, Miyashita C, Itoh S, Kobayashi S, Ait Bamai Y et al. Environmental health and preventive medicine (2021)
    3. [3]
      Pharmacoepidemiologic Evaluation of Birth Defects from Health-Related Postings in Social Media During Pregnancy. — Golder S, Chiuve S, Weissenbacher D, Klein A, O'Connor K, Bland M et al. Drug safety (2019)
    4. [4]
      Effect of Lawyer-Submitted Reports on Signals of Disproportional Reporting in the Food and Drug Administration's Adverse Event Reporting System. — Rogers JR, Sarpatwari A, Desai RJ, Bohn JM, Khan NF, Kesselheim AS et al. Drug safety (2019)
    5. [5]
      Human Amniotic Membrane and Amniotic Membrane-Derived Cells: How Far Are We from Their Use in Regenerative and Reconstructive Urology? — Ramuta TŽ, Kreft ME Cell transplantation (2018)
    6. [6]
      Application of polycaprolactone nanofibers as patch graft in ophthalmology. — Hashemi H, Asgari S, Shahhoseini S, Mahbod M, Atyabi F, Bakhshandeh H et al. Indian journal of ophthalmology (2018)
    7. [7]
      3D printing for clinical application in otorhinolaryngology. — Zhong N, Zhao X European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery (2017)
    8. [8]
      Identifying birth defects in automated data sources in the Vaccine Safety Datalink. — Kharbanda EO, Vazquez-Benitez G, Romitti PA, Naleway AL, Cheetham TC, Lipkind HS et al. Pharmacoepidemiology and drug safety (2017)
    9. [9]
      Major Birth Defects after Vaccination Reported to the Vaccine Adverse Event Reporting System (VAERS), 1990 to 2014. — Moro PL, Cragan J, Lewis P, Sukumaran L Birth defects research (2017)
    10. [10]
      A bundle improves eye care in PICU. — McCall K, Hussin HM, Gregory ME, Dutton G, Richardson J Archives of disease in childhood (2016)
    11. [11]
      Maternal diet supplementation with methyl donors and increased parity affect the incidence of craniofacial defects in the offspring of twisted gastrulation mutant mice. — Billington CJ, Schmidt B, Zhang L, Hodges JS, Georgieff MK, Schotta G et al. The Journal of nutrition (2013)
    12. [12]
      Linking a pharmaceutical claims database with a birth defects registry to investigate birth defect rates of suspected teratogens. — Colvin L, Slack-Smith L, Stanley FJ, Bower C Pharmacoepidemiology and drug safety (2010)
    13. [13]
      Reproductive health and pregnancy outcomes among French gulf war veterans. — Verret C, Jutand MA, De Vigan C, Bégassat M, Bensefa-Colas L, Brochard P et al. BMC public health (2008)
    14. [14]
      Perspectives on the 2007 AHA Endocarditis Prevention Guidelines. — Pallasch TJ Journal of the California Dental Association (2007)
    15. [15]
      Linking family history in obstetric and pediatric care: assessing risk for genetic disease and birth defects. — Dolan SM, Moore C Pediatrics (2007)
    16. [16]
      Genetic aspects of birth defects: new understandings of old problems. — Prescott KR, Wilkie AO Archives of disease in childhood. Fetal and neonatal edition (2007)
    17. [17]
      Cardiac conduction and arrhythmia: insights from Nkx2.5 mutations in mouse and humans. — Jay PY, Berul CI, Tanaka M, Ishii M, Kurachi Y, Izumo S Novartis Foundation symposium (2003)
    18. [18]
      Mortality associated with birth defects: influence of successive disease classification revisions. — Hoyert DL Birth defects research. Part A, Clinical and molecular teratology (2003)
    19. [19]
      Bendectin and birth defects. II: Ecological analyses. — Kutcher JS, Engle A, Firth J, Lamm SH Birth defects research. Part A, Clinical and molecular teratology (2003)
    20. [20]
      Maternal fever, multivitamin use, and selected birth defects: evidence of interaction? — Botto LD, Erickson JD, Mulinare J, Lynberg MC, Liu Y Epidemiology (Cambridge, Mass.) (2002)
    21. [21]
      Wire scalpel for surgical correction of soft tissue contour defects by subcutaneous dissection. — Sulamanidze MA, Salti G, Mascetti M, Sulamanidze GM Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] (2000)
    22. [22]
      Exposure assessment in epidemiologic studies of birth defects by industrial hygiene review of maternal interviews. — Katz EA, Shaw GM, Schaffer DM American journal of industrial medicine (1994)
    23. [23]
      Severe midline fusion defects in a newborn with 10q26----qter deletion. — Fryns JP, Kleczkowska A, Fivez H, Van den Berghe H Annales de genetique (1989)
    24. [24]
      The tip of the iceberg: a validation study of the Victorian Congenital Malformations/Birth Defects Register. — Lumley J, Palma S, Fischer M, Robertson H Australian paediatric journal (1988)
    25. [25]
      A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects. — Casamassima AC, Mamunes P, Gladstone IM, Solomon S, Moncure C American journal of medical genetics (1987)
    26. [26]
      Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. — Happle R Journal of the American Academy of Dermatology (1987)
    27. [27]
      Spurious high birth defect rate on the island of Lanai and an unexpected indication of a high incidence of adverse pregnancy outcomes in Kohala on the Big Island. — Kirkham J R & S report. Hawaii. Department of Health. Research and Statistics Office (1986)
    28. [28]
      Birth defects and exposure to video display terminals during pregnancy. A Finnish case-referent study. — Kurppa K, Holmberg PC, Rantala K, Nurminen T, Saxén L Scandinavian journal of work, environment & health (1985)
    29. [29]
      A method for quantitative scoring of the Farnsworth Panel D-15. — Bowman KJ Acta ophthalmologica (1982)
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