Abstract
Background
Tetralogy of Fallot (TOF) is the commonest cyanotic congenital cardiac defect. Uncorrected TOF in adults, especially during pregnancy, is uncommon and presents significant hazards to both mother and fetus.
Summary
We present a case of a 28-year-old lady with uncorrected cyanotic TOF, gravida 4, para 1 + 3 at 22 weeks of gestation, who presented to our multidisciplinary cardio-obstetric team. She presented with cyanosis, exertional dyspnea, and oxygen saturation in the range of 70% to 80%. Echocardiography revealed the classic features of TOF, such as a large ventricular septal defect and severe pulmonary stenosis. An emergency preterm birth was performed at 28 weeks due to maternal instability. The baby, admitted to the neonatal intensive care unit, was released after 14 days.
Discussion
Uncorrected TOF seldom allows for survival to reproductive age. Research indicates worse maternal-fetal outcomes in such cases. This instance underscores the significance of prompt diagnosis and diligent management by a multidisciplinary cardio-obstetric team for a better prognosis.
Conclusions
Uncorrected TOF during pregnancy is uncommon but can be effectively managed with prompt, multidisciplinary cardio-obstetric collaborative intervention.
Key words: congenital heart defect, high-risk pregnancy, multidisciplinary approach, tetralogy of Fallot
Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart defect (CHD). It is characterized by four key abnormalities: a ventricular septal defect (VSD), an overriding aorta, pulmonary stenosis, and right ventricular hypertrophy.1,2 Since it generally manifests in the first year of life, uncorrected TOF in adulthood is unusual and very rare in pregnancy and is predominantly seen in low- to middle-income countries.3 Healthy women experience various physiological cardiovascular changes throughout pregnancy, labor, and postpartum. These changes pose significant risks to patients with uncorrected TOF due to worsening hypoxia and cyanosis during pregnancy.4 Thus, the prognosis remains poor for individuals with uncorrected TOF, as it remains a complex and cyanotic form of CHD and complicates parturition and pregnancy with significant maternal morbidity and mortality (62.5% and 10%, respectively) and also poses hazardous neonatal outcomes.5,6 There is a dearth of data around management and outcomes of such patients in a low-resource setting. Therefore, a multidisciplinary approach is required in managing pregnancy in a patient with uncorrected TOF.1 Our case report of a pregnant, uncorrected, cyanotic TOF patient helps highlight the role of a multidisciplinary team in managing such a condition.
Case Presentation
A 28-year-old pregnant female (22 weeks of gestation) with unrepaired TOF was referred to our high-risk multidisciplinary cardio-obstetric clinic at a tertiary care hospital located in Karachi, Pakistan. At her first visit to our clinic, she was 22 weeks pregnant. She was in NYHA functional class III with moderate dyspnea on mild exertion.
She had 3 prior pregnancies. All prior pregnancies reportedly ended in neonatal deaths due to premature spontaneous home births, with no medical records accessible for investigation. This was her first visit to a tertiary care center for assessment of worsening symptoms during the current pregnancy. Comprehensive retrospective obstetric information could not be obtained due to the lack of previous record keeping, and the history was exclusively based on the patient's verbal statement.
She was diagnosed with TOF at the age of 4 years but was lost to follow-up. On examination, she was found to be clubbed and cyanosed, with oxygen saturation levels between 70% and 80%. Her cardiac examination revealed a harsh 3/6 systolic ejection murmur at the left upper sternal border. Her electrocardiogram demonstrated right-axis deviation with right ventricular hypertrophy and sinus tachycardia at a heart rate of 147 beats/min. Maternal echocardiography revealed a large, mal-aligned, 8-mm peri-membranous VSD with a right-to-left shunt, overriding of the aorta, and a thickened, doming pulmonary valve (PV) with severe valvular, infundibular, and supravalvular pulmonary stenosis. The maximum pressure gradient across the PV was 105 mm Hg. The PV annulus measured 8 mm, and the main pulmonary artery (PA) 17 mm, while each of the branch PAs measured 16 mm. While the right atrium and ventricle were dilated with normal systolic function, the left heart had a normal size and systolic function. The fetal echocardiogram demonstrated a normal heart.
Management
She was maintained on a low-dose beta-blocker and loop diuretic. As surgery was not planned during pregnancy, right-heart catheterization was deferred since it would not have altered management and could have posed unnecessary risks to both the mother and fetus. Considering her congenital heart disease and history of 3 neonatal deaths, a fetal echocardiogram was scheduled. During the fetal echocardiogram, at 27 weeks of gestation, she became drowsy and hypotensive. She was shifted to the emergency department and managed with intravenous fluids and supplemental oxygen via nasal prong, and her blood pressure stabilized after fluid resuscitation. Given her unstable condition and previous poor obstetric history, an emergency C-section was planned. Preoperatively, the patient received intramuscular dexamethasone 12 mg administered twice, 24 hours apart, along with clindamycin 600 mg. At 28 weeks of gestation, she underwent a cesarean section under epidural anesthesia. A baby boy was delivered, weighing 1.8 kg. Soon after delivery, the mother was shifted to our tertiary care cardiac center for monitoring. The baby was admitted to the neonatal intensive care unit and discharged after 14 days. The patient was followed up every month in the cardio-obstetric clinic and remained symptomatic with hypoxia. She was counseled on every visit about her surgical repair procedure. Therefore, after 3 months, a right-heart catheterization was performed, which showed the following hemodynamic parameters (right arterial pressure 12 mm Hg, right ventricle pressure 140 mm Hg, PA 20 mm Hg, left ventricular 120 mm Hg), and she was referred for surgery. The patient underwent a VSD closure and transannular patch repair of TOF and is now able to carry out her routine activities normally. At 6 months of age, the baby weighed 7 kg and was achieving normal developmental milestones.
Discussion
The World Health Organization defines patients with uncorrected CHD as Class III for maternal cardiovascular risk, indicating a high risk of maternal death or complications. Comprehensive counseling and close monitoring by cardio-obstetric teams during antenatal, birth, and postpartum periods are needed for management in such high-risk patients.7
Pregnant women with uncorrected TOF undergo substantial hemodynamic changes during gestation, including increased cardiac output, alterations in vascular tone, and various physiological adaptations that place considerable strain on the cardiovascular system, which may lead to maternal right-sided heart failure, arrhythmias, prematurity, miscarriage, and small-for-gestational-age infants.8,9 A major issue involves the hemodynamic changes that occur during pregnancy, including an increase in plasma volume accompanied by a reduction in systemic and pulmonary vascular resistance. However, due to the significant decline in systemic vascular resistance compared to pulmonary vascular resistance, the resultant gradient promotes right-to-left shunting. This reduces peripheral blood flow, worsens cyanosis, and leads to systemic hypoxemia. Cyanotic conditions are further complicated by secondary erythrocytosis, which can cause hyperviscosity and increase the risk of thromboembolic events.10 These considerations highlight the necessity of a coordinated, multidisciplinary management strategy, as the interface between the patient's cardiac disease and the hemodynamic needs of pregnancy has profound implications for maternal and newborn outcomes in a pregnant patient with unrepaired CHD. Our case demonstrates the major health threats pregnant women experience when living with uncorrected TOF, especially with a late presentation to a cardio-obstetric team. Trimester-specific maternal and fetal complications, along with suggested management approaches, are presented in Table 1.
Table 1.
Maternal and Fetal Complications With Suggested Management Across Pregnancy and Postpartum in Uncorrected Tetralogy of Fallot
| Period | Maternal Complications | Fetal Complications | Suggested Management |
|---|---|---|---|
| First trimester | Spontaneous abortion, worsening cyanosis.11 | Increased risk of congenital heart disease in offspring.11 | Preconception counselling and risk stratification for both mothers and the fetus, baseline electrocardiography/echo/O2 saturation.11 Early referral to a tertiary care center, collaborative care between a congenital heart defect cardiologist and the maternal-fetal medicine team.12 |
| Second trimester | Progression of cyanosis/right ventricular dysfunction, increased thromboembolic risk in cyanotic patients11 | Fetal growth restriction and oligohydramnios.11 Higher risk of preterm birth.12 | Serial maternal and fetal echocardiography. A coordinated care plan for labor, delivery, and postpartum should be shared with the multidisciplinary cardio-obstetric team.11 |
| Third trimester | Worsening right ventricle function and symptomatic decompensation.8 Increased arrhythmia risk.11 | Preterm birth, low birth weight, and risk of intrauterine demise.11 | Epidural anesthesia and vaginal delivery if hemodynamically stable. Ensure invasive monitoring and neonatal support.11 |
| Postpartum period | Right-heart failure, arrhythmias; increased thromboembolism risk.11 | Respiratory distress syndrome, small for gestational age, and other prematurity complications.11 | Active management of the third stage of labor and careful vigilant management of postpartum hemorrhage,13 close critical care unit/intensive care unit monitoring for 24–48 hrs,11 contraception counseling and arrange neonatal cardiology follow-up.11 |
Research shows that uncorrected TOF has a low survival rate to childbearing age, as 70% of affected individuals survive less than a decade.10 Therefore, the presentation and management of a pregnant woman with uncorrected TOF in a low-resource setting are genuinely exceptional and challenging. Early detection of congenital heart disease becomes vital for women who have faced neonatal deaths or encountered pregnancy complications. Guideline-based and timely coordinated medical care is essential for achieving better maternal and fetal health outcomes.
A study by Presbitero et al10 reported 49 spontaneous miscarriages and 6 stillbirths in mothers with congenital cyanotic heart disease, which supports the findings of our case report, highlighting the importance of a timely and multidisciplinary approach in managing patients with CHD during pregnancy. Similar to our case, Veldtman et al14 documented that, among 8 women with unrepaired TOF, 6 had infants who were small for gestational age (SGA), and 5 of the pregnancies ended in miscarriages. The first cohort study by Wang et al,5 which considered pregnant women with ToF, reported a 50% prematurity rate among 12 participants. The study also identified obstetric complications such as miscarriage, premature labor, SGAs, and low-birth-weight infants at term. Wang et al5 found that half of the women (50%) experienced complications due to premature rupture of membranes or prenatal hemorrhage, with a 41.67% rate of SGA.
This case has great clinical implications for high-risk patient care. Uncorrected TOF, presenting in adulthood, especially in pregnant women, is a complex issue in developing countries where there is a paucity of medical care.3 This case highlights the problems faced in low- and middle-income countries, like fragmented and ineffective primary care, leading to delayed referral to tertiary care. The burden of complex congenital heart disease is compounded by the adverse social determinants of health, like rural living and poverty, which preclude frequent follow-ups.
In managing our patients, a well-coordinated multidisciplinary team approach (cardiologists, obstetricians, neonatologists, and anesthesiologists) proved to be beneficial for a favorable outcome for the mother and baby. Early diagnosis, proper monitoring, and timely intervention can decrease the unfavorable severe end of outcomes that one typically sees in these complex cases.
Our center is a tertiary care facility in a developing country. The patient had a complex medical history, and both she and her baby achieved a favorable outcome through a multidisciplinary team approach in our low-income setting.
Conclusions
This case report underscores the significant challenges and essential considerations in managing a pregnant patient with uncorrected TOF. The favorable outcome achieved here highlights the value of a multidisciplinary cardio-obstetric team approach involving obstetricians, cardiologists, and anesthesiologists. A comprehensive understanding of the physiological changes during pregnancy and childbirth, combined with careful monitoring and prompt interventions, can greatly enhance both maternal and fetal outcomes. This case illustrates the importance of personalized medical strategies and the need for increased awareness and readiness in managing similar high-risk pregnancies.
Funding Support and Author Disclosures
The authors have reported that they have no relationships relevant to the contents of this paper to disclose.
Take-Home Message
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This case highlights the importance of multidisciplinary team management for high-risk pregnancy in a patient with tetralogy of Fallot.
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This case also emphasizes the need to establish cardio-obstetric clinics in low- to middle-income countries to support favorable outcomes in such high-risk pregnancies.
Footnotes
The authors attest they are in compliance with human studies committees and animal welfare regulations of the authors’ institutions and Food and Drug Administration guidelines, including patient consent where appropriate. For more information, visit the Author Center.
Appendix
For supplemental videos, please see the online version of this paper.
Appendix
Apical 4-Chamber View With Color Doppler Showing Ventricular Septal Defect and Right Ventricle Hypertrophy
Parasternal Long-Axis View With Color Doppler Showing Overriding of the Aorta and Ventricular Septal Defect
Right Ventricle Angiogram Showing Hypertrophied Right Ventricle, Severe Infundibular Stenosis, and Mild Valvular and Supravalvular Stenosis
Main Pulmonary Artery Angiogram Showing Good Right and Left Pulmonary Artery Branches and Lung Arborization
Apical 4-Chamber View With Color Doppler Showing Ventricular Septal Defect Patch Repair
Parasternal Long-Axis View With Color Doppler Showing Correction of Tetralogy of Fallot
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Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Supplementary Materials
Apical 4-Chamber View With Color Doppler Showing Ventricular Septal Defect and Right Ventricle Hypertrophy
Parasternal Long-Axis View With Color Doppler Showing Overriding of the Aorta and Ventricular Septal Defect
Right Ventricle Angiogram Showing Hypertrophied Right Ventricle, Severe Infundibular Stenosis, and Mild Valvular and Supravalvular Stenosis
Main Pulmonary Artery Angiogram Showing Good Right and Left Pulmonary Artery Branches and Lung Arborization
Apical 4-Chamber View With Color Doppler Showing Ventricular Septal Defect Patch Repair
Parasternal Long-Axis View With Color Doppler Showing Correction of Tetralogy of Fallot