Late diagnosis of Ebstein anomaly after pregnancy: A rare case report
Abstract
Congenital heart disease is a concerning disease among those affected since it affects the patient's quality of life. One of which is Ebstein Anomaly (EA), with a prevalence of 1 in 200,0000 births with a clinical characteristic of displacement of the tricuspid valve that causes atrialization of the right-side heart. Women of childbearing age are at risk because they especially have asymptomatic EA, compromised to hemodynamic consequences, and risk of maternal complications. A 25-year-old woman visited the emergency department with worsening shortness of breath since last week, during rest, accompanied by decreased physical activity tolerance, bilateral ankle edema, cyanosis to the lips, and nail bed. She had echocardiography and cardiac multi-slice computed tomography to identify EA before and after her first child's birth. She was well controlled with a loop diuretic, phosphodiesterase type 5 inhibitor, and beta-blocker but could not care for her child due to her condition. The patient was discharged after symptoms subsided, awaiting further interventional evaluation. Although EA is rare, it has high morbidity and mortality, especially in women of childbearing age since it may be asymptomatic during childhood. Therefore, early recognition of EA is probably necessary for women who are planning pregnancy.
References
Abramian, A., Gembruch, U., Geipel, A., Müller, A. M., Baier, B., & Berg, C. (2011). Ebstein’s anomaly of the tricuspid valve in association with tetralogy of fallot and absent pulmonary valve syndrome. Fetal Diagnosis and Therapy, 30(2), 153–156. https://doi.org/10.1159/000329304
Adam, K. (2017). Pregnancy in Women with Cardiovascular Diseases. Methodist DeBakey Cardiovascular Journal, 13(4), 209–215. https://doi.org/10.14797/mdcj-13-4-209
Baumgartner, H., De Backer, J., Babu-Narayan, S. V, Budts, W., Chessa, M., Diller, G.-P., Lung, B., Kluin, J., Lang, I. M., Meijboom, F., Moons, P., Mulder, B. J. M., Oechslin, E., Roos-Hesselink, J. W., Schwerzmann, M., Sondergaard, L., & Zeppenfeld, K. (2021). 2020 ESC Guidelines for the management of adult congenital heart disease. European Heart Journal, 42(6), 563–645. https://doi.org/10.1093/eurheartj/ehaa554
Bishop, L., Lansbury, A., & English, K. (2018). Adult congenital heart disease and pregnancy. BJA Education, 18(1), 23–29. https://doi.org/10.1016/j.bjae.2017.11.001
Blue, G. M., Kirk, E. P., Sholler, G. F., Harvey, R. P., & Winlaw, D. S. (2012). Congenital heart disease: current knowledge about causes and inheritance. The Medical Journal of Australia, 197(3), 155–159. https://doi.org/10.5694/mja12.10811
Boyle, B., Garne, E., Loane, M., Addor, M.-C., Arriola, L., Cavero-Carbonell, C., Gatt, M., Lelong, N., Lynch, C., Nelen, V., Neville, A. J., O’Mahony, M., Pierini, A., Rissmann, A., Tucker, D., Zymak-Zakutnia, N., & Dolk, H. (2017). The changing epidemiology of Ebstein’s anomaly and its relationship with maternal mental health conditions: a European registry-based study. Cardiology in the Young, 27(4), 677–685. https://doi.org/10.1017/S1047951116001025
Chopra, S., Suri, V., Aggarwal, N., Rohilla, M., Vijayvergiya, R., & Keepanasseril, A. (2010). Ebstein’s anomaly in pregnancy: maternal and neonatal outcomes. The Journal of Obstetrics and Gynaecology Research, 36(2), 278–283. https://doi.org/10.1111/j.1447-0756.2009.01130.x
Christ, T., Rozmaritsa, N., Engel, A., Berk, E., Knaut, M., Metzner, K., Canteras, M., Ravens, U., & Kaumann, A. (2014). Arrhythmias, elicited by catecholamines and serotonin, vanish in human chronic atrial fibrillation. Proceedings of the National Academy of Sciences of the United States of America, 111(30), 11193–11198. https://doi.org/10.1073/pnas.1324132111
Elkayam, U., Goland, S., Pieper, P. G., & Silverside, C. K. (2016a). High-Risk Cardiac Disease in Pregnancy: Part II. Journal of the American College of Cardiology.
Elkayam, U., Goland, S., Pieper, P. G., & Silverside, C. K. (2016b). High-Risk Cardiac Disease in Pregnancy: Part I. Journal of the American College of Cardiology, 68(4), 396–410. https://doi.org/10.1016/j.jacc.2016.05.048
Hakman, E. N., & Cowling, K. M. (2022). Paradoxical Embolism.
Harris, K. W., Brelsford, K. M., Kavanaugh-McHugh, A., & Clayton, E. W. (2020). Uncertainty of Prenatally Diagnosed Congenital Heart Disease: A Qualitative Study. JAMA Network Open, 3(5), e204082. https://doi.org/10.1001/jamanetworkopen.2020.4082
John Jairo, A. (2018). The Profile of an Adult with Congenital Heart Disease. International Journal of Clinical Cardiology, 5(4). https://doi.org/10.23937/2378-2951/1410131
Kanoh, M., Inai, K., Shinohara, T., Shimada, E., Shimizu, M., Tomimatsu, H., Ogawa, M., & Nakanishi, T. (2018). Influence of pregnancy on cardiac function and hemodynamics in women with Ebstein’s anomaly. Acta Obstetricia et Gynecologica Scandinavica, 97(8), 1025–1031. https://doi.org/10.1111/aogs.13373
Katsuragi, S., Kamiya, C., Yamanaka, K., Neki, R., Miyoshi, T., Iwanaga, N., Horiuchi, C., Tanaka, H., Yoshimatsu, J., Niwa, K., & Ikeda, T. (2013). Risk factors for maternal and fetal outcome in pregnancy complicated by Ebstein anomaly. American Journal of Obstetrics and Gynecology, 209(5), 452.e1-6. https://doi.org/10.1016/j.ajog.2013.07.005
Kwag, E. M., Lee, J. S., & Kim, S. H. (2018). The incidentally diagnosed adult congenital heart disease during routine medical health checkups in 27,897 Koreans at a single center over seven years. BMC Cardiovascular Disorders, 18(1), 223. https://doi.org/10.1186/s12872-018-0968-0
Lammers, A. E., Diller, G.-P., Lober, R., Möllers, M., Schmidt, R., Radke, R. M., De-Torres-Alba, F., Kaleschke, G., Marschall, U., Bauer, U. M., Gerß, J., Enders, D., & Baumgartner, H. (2021). Maternal and neonatal complications in women with congenital heart disease: a nationwide analysis. European Heart Journal, 42(41), 4252–4260. https://doi.org/10.1093/eurheartj/ehab571
Liu, Y., Chen, S., Zühlke, L., Black, G. C., Choy, M.-K., Li, N., & Keavney, B. D. (2019). Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies. International Journal of Epidemiology, 48(2), 455–463. https://doi.org/10.1093/ije/dyz009
Ramage, K., Grabowska, K., Silversides, C., Quan, H., & Metcalfe, A. (2019). Association of adult congenital heart disease with pregnancy, maternal, and neonatal outcomes. JAMA Network Open, 2(5), 1–15. https://doi.org/10.1001/jamanetworkopen.2019.3667
Sainathan, S., da Fonseca da Silva, L., & da Silva, J. P. (2020). Ebstein’s anomaly: contemporary management strategies. Journal of Thoracic Disease, 12(3), 1161–1173. https://doi.org/10.21037/jtd.2020.01.18
Sanghavi, M., & Rutherford, J. D. (2014). Cardiovascular physiology of pregnancy. Circulation, 130(12), 1003–1008. https://doi.org/10.1161/CIRCULATIONAHA.114.009029
Sharma, N., Lalnunnem, T. J., Nandwani, M., Santa, S. A., & Synrang, B. W. (2018). Ebstein Anomaly with Pregnancy: A Rare Case. In Journal of reproduction & infertility (Vol. 19, Issue 2, pp. 119–122).
Sharma, T., Habash, F., Mounsey, J., Baker, C., & Lopez Candales, A. (2020). Ebstein’s Anomaly in Disguise: Follow the Cues and the Diagnosis Can Be Made. In Cureus (Vol. 12, Issue 10, p. e10773). https://doi.org/10.7759/cureus.10773
Susilowati, E. (2020). Management of Pregnancy in 31-Year-Old Woman with Persistent Atrial Flutter After Cone Reconstruction for Ebstein’s Anomaly. Cardiovascular and Cardiometabolic Journal (CCJ), 1(1), 17. https://doi.org/10.20473/ccj.v1i1.2020.17-25
van der Linde, D., Konings, E. E. M., Slager, M. A., Witsenburg, M., Helbing, W. A., Takkenberg, J. J. M., & Roos-Hesselink, J. W. (2011). Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. Journal of the American College of Cardiology, 58(21), 2241–2247. https://doi.org/10.1016/j.jacc.2011.08.025
Wu, M.-H., Lu, C.-W., Chen, H.-C., Kao, F.-Y., & Huang, S.-K. (2018). Adult Congenital Heart Disease in a Nationwide Population 2000-2014: Epidemiological Trends, Arrhythmia, and Standardized Mortality Ratio. Journal of the American Heart Association, 7(4). https://doi.org/10.1161/JAHA.117.007907
Authors
Copyright (c) 2023 Jesse Lesmana, Muhammad Ramadhan, Muhammad Barri, Sidhi Laksono Purwowiyoto, Zahra Nurusshofa
This work is licensed under a Creative Commons Attribution 4.0 International License.
Qanun Medika by FK UM Surabaya is liscence under Lisensi Creative Commons Atribusi 4.0 Internasional.
