What work-up do we need for women with congenital heart disease in the 21st century for the preparation of pregnancy?

Abstract

Pregnancy poses significant risks for women with congenital heart disease (CHD) due to major cardiovascular changes that can lead to complications which increases the morbidity and mortality rate in these patients. CHD is the leading cause of pregnancy-related deaths in the United States. In this review, we present the steps required to reduce these risks. We cover the changes to the maternal cardiovascular system that occur in pregnancy, and how they can significantly impact the cardiac patient where the disease may lead to poor adaptation in pregnancy. We discuss the epidemiology of this growing challenge and analyse the available the risk stratification models necessary to recognise and mitigate the chance of maternal cardiovascular complications arising in pregnancy. We follow on to discuss the necessity of pre-pregnancy counselling, which is often missed, but allows the potential mother to have a full conversation regarding the implication of pregnancy on her and her baby. We highlight the need to cover topics such as contraception, medication, subfertility, and maternal and fetal risk. Finally, we discuss the need of a pregnancy heart team; what specialist should be involved in the care of these high-risk women and where antenatal and delivery care should take place.

Keywords

Pregnancy paediatric and congenital heart disease’ including cardiovascular surgery cardiovascular (CV) surgery cardiology pregnancy heart team pre-pregnancy counselling

Introduction

Pregnancy is a safe, exciting and emotionally fulfilling time for most women, but this is not necessarily the case in women with congenital heart disease (CHD).¹ During pregnancy, the body undergoes major cardiovascular changes, and, in women with CHD, may alter the delicately balanced physiology such that complications occur, increasing the morbidity and mortality of these patients.¹ Between 1% and 4% of women will experience pregnancy complicated by heart disease.² In the United States, cardiovascular disease remains the leading cause of maternal death^3,4 and accounts for 26% of pregnancy-related deaths.⁵ We see similar statistics in the United Kingdom, where, the MBRRACE-UK 2024 report for the 2019–2021 triennium showed that 36 women (13% of all deaths) died of cardiac disease, making this the third most common cause of maternal death.⁶ This has decreased from 54 (13%) deaths from 2012 and has also been reflected in the Registry Of Pregnancy And Cardiac disease (ROPAC) which has shown a drop in maternal mortality.²

It is widely accepted that many of these deaths are preventable, and much work and focus has been dedicated into raising awareness of the risk cardiac disorders, both diagnosed and undiagnosed, pose to the pregnant woman.⁷ The MBRRACE-UK 2024 found that in 36% of maternal cardiac-related deaths could have been avoided with improvements in care whilst the U.S. Maternal Mortality Review Committee found death preventable in up to 80% of cases.⁸

The increasing numbers of pregnant women with cardiac disease is further complicated by the rising maternal age, the increased incidence of additional comorbidities such as obesity, hypertension, preeclampsia and diabetes, increasing the impact of these conditions on pregnancy women and the teams managing their pregnancies.^1,5,9 These complex patients require intense monitoring by specialised teams involving Obstetricians, Cardiologists, Maternal Physicians, Anaesthetists, Echo cardiologists, Neonatologists, Haematologists, Radiologists, and Cardiothoracic surgeons. Ideally, care for these women starts with preconception counselling, with many women being aware of the potential for complications of a pregnancy from adolescence. Occasionally, women will present in early pregnancy where not all possible actions can be implemented. Some women will develop symptoms during pregnancy and require rapid review for diagnosis and management to improve their outcomes.¹⁰

Methods

A 15-year retrospective literature search was made in 2024 using PubMed, Embase, and web of science for studies with the keywords ‘pregnancy heart’, ‘pregnancy cardiac’, ‘maternal heart’, ‘maternal cardiac’, ‘management of’ and ‘outcomes of’. We references of person articles were also hand searched for relevant papers. Only studies published in English were considered for this article.

Physiological changes of pregnancy

The physiological changes in the antenatal, intrapartum and postnatal periods are well documented in multiple sources (see Table 1). Though these changes do not adversely affect most women, they can significantly impact the cardiac patient where the disease may lead to poor adaptation to the cardiac changes of pregnancy.

Table 1.

Physiological changes of pregnancy.

Physiological variable	Change	Quantity of change
Blood volume	Increase	50%. Rapidly from 6–20 weeks, gently thereafter
Blood volume—during contractions	Increase	300 to 500 mLs from uterus to maternal circulation
Stroke volume	Increase
Heart rate	Increase	10–20 b/min
Pulmonary vascular resistance	Decrease	25–30%
Systemic vascular resistance	Decrease	25–30%
Cardiac output—antenatally1st stage of labour2nd stage of labourPostnatally	Increase	Increases by 40% by 26 weeks due to stroke volume and maternal heart rate
	Increase	15%
	Increase	50%
	Increase	Increases in first hour due to release of pressure on inferior vena cava and increases due to return of serum colloid osmotic pressure to normal. Returns to normal after two weeks.
Blood pressure—1st and 2nd trimestersBlood pressure—3rd trimesterBlood pressure—labour	Decrease	Falls due to fall in systemic and pulmonary vascular resistance
	Consistent or increase	Remains low or returns to pre-pregnancy levels
	Increase
Glomerular filtration rate	Increase
Liver metabolism	Increase
Serum colloid osmotic pressure	Decrease	10–15%

Circulating blood volume begins to rise rapidly from six weeks until around 20 weeks, with more gentle increases from then on. The total volume increase is around 50%, creating a physiological anaemia due to a slower rise in haemoglobin concentration.¹¹

Antenatally, cardiac output (CO) rises by 40% due to an increase in both stroke volume (by atrial and ventricular diameter increases) and maternal heart rate. This mostly occurs in the first trimester but reaches a maximum by 26 weeks. Maternal blood pressure falls in the first two trimesters as there is a fall in both systemic and pulmonary vascular resistance, and blood pressure remains low or returns to pre-pregnancy levels in the third trimester.^1,11

During labour, there are further changes in CO, with a 15% increase in the first stage of labour and a 50% increase in the second. CO also increases further with each contraction, and, during these, there is also a 300 to 500 mL autotransfusion from the uterus to the maternal circulation. The pain, anxiety and positions of labour will also all impact the CO. At delivery the CO increases in the first hour due to the release of pressure on the inferior vena cava and the permanent autotransfusion from the uterus to the maternal vascular system.¹ Blood pressure also rises during labour.

Postpartum, the return of serum colloid osmotic pressure to normal causes the transient intravascular volume to increase the CO further. The CO returns to normal two weeks after delivery.¹

Other important physiological changes to consider when managing these patients are increases in glomerular filtration rate and liver metabolism which alter the pharmacokinetics and therefore the clearance of many medications.¹ There are also hormone-related changes to the media of large vessels, with an increased risk of dilation and dissection, especially in those with pre-existing disorders prone to such events.¹²

Risk stratification

This begins with a thorough history including comorbidities and other medical conditions, full physical examination, including measurement of all vitals (BP, heart rate, oxygen saturation), bloods (FBC, ferritin, liver and renal function and B-type natriuretic peptide). An ECG, exercise tolerance test and echocardiography should also be performed. MRI/CT is required in those with aortic disease, where the entire aorta needs to be assessed to allow the aortic dimension to be measured.¹³

There are four commonly used risk stratification tools for cardiac disease in pregnancy: the modified World Health Organization (mWHO) score, Cardiac Disease in Pregnancy Study (CARPREG II), Zwangerschap bijbAangeboren HARtAfwijking (Pregnancy in Women with Congenital Heart Disease) (ZAHARA) and the ROPAC studies.¹³ Several studies have attempted to compare and validate the stratification tools. This has led to conflicting results, as different levels of care and expertise in various units may alter maternal and fetal outcomes. The risk stratification tools cover all cardiac disease, except for ZAHARA, which focuses only on congenital cardiac disease.⁵ The tools do not allow to personalise all aspects of the patient to get a truly individualised risk.¹³

The consensus based mWHO classification (Table 2) integrates data from all available literature and incorporates information about maternal risk, contraindications to pregnancy, the underlying CHD, ventricular and valvular function, and prognosticators from various other studies.¹⁴ The system categorises women into four classes. Women in mWHO classes I and II can be cared for in local units and require cardiac review only once or twice for mWHO Class I and once in each trimester in Class II. Those in classes II–III and III require expert care in large centres and need review monthly to bimonthly. Finally, Class IV, where pregnancy is not recommended (e.g. pulmonary arterial hypertensin, severe aortic stenosis, severe ventricular dysfunction (EFV <30%), vascular Ehelrs-Danlos [vEDS]) need expert care and more frequent review, which should be individualised.¹³ The mWHO has been shown to be superior in assessing risk for cardiovascular events in pregnancy in women with CHD when compared to CARPREG I and Zahara¹⁴ and CARPREG II.⁵ In the latter publication, the risks to the mother were shown to persist for up to a year post delivery. Furthermore, mWHO Class I has a negative predictive value of 100% for cardiovascular events demonstrating that pregnancy is comparatively safe. However, the mWHO may present the inexperienced clinician with difficulty in assigning women between classes II and III.¹⁴ The mWHO classification system is an excellent starting point to plan and manage the pregnancy.¹⁴

Table 2.

Modified WHO risk stratification.

Modified WHO Class	Conditions
I	No higher risk than the general population. Uncomplicated or successfully repaired small or mild lesions including:Isolated premature atrial or ventricular contractionMitral valve prolapse (trivial regurgitation only)Ostium secundumPatent ductus arteriosusPulmonary stenosis Total anomalous pulmonary venous drainageVentricular septal defect
II	Small increased risk of maternal morbidity and mortality.Coarctation of the aorta (repaired or unrepaired) without significant gradient or aneurysmLong QT syndromeMost arrhythmiasRepaired tetralogy of FallotUnoperated atrial septal defect
II to III	Bicuspid aortic valve without aortic dilatationHeart transplantHypertrophic cardiomyopathyMarfan syndrome without aortic dilationMild left ventricular impairmentNative or tissue valve disease not considered WHO Class IV.
III	Significant risk of maternal morbidity and mortality.Aortic dilation without known fibrinogen diseaseBicuspid aortic valve with aortic root dilation 45 to 50 mm Coarctation of the aorta (repaired or unrepaired), with residual gradient or aneurysmCyanotic heart diseaseMarfan syndrome with aortic root dilation <45 mm or following aortic replacementMechanical valveOther complex congenital heart repairPost-Fontan operation Systemic right ventricle
IV	Pregnancy contraindicated.Bicuspid aortic valve with aortic dilation >50 mmMarfan syndrome with aortic dilation >45 mmPrevious peripartum cardiomyopathy with residual impairment of left ventricular functionPulmonary arterial hypertensionSevere left heart obstruction (aortic valve area <1 cm² or peak gradient >50 mm Hg; mitral valve area <1.5 cm²)Severe left ventricular dysfunction (left ventricular ejection fraction <30% or New York Heart Association functional classes III to IV)

The CARPREG, was first published in 2001 and updated in 2018with a better risk score performance,¹³and was the first to develop a risk index to predict the likelihood of maternal cardiac complications from general maternal clinical, lesion specific and echocardiographic data obtained during the baseline antenatal visits. For CARPREG II, 10 predicators were included a comprehensive risk stratification tool. The predictors were five general (prior cardiac events or arrhythmias, poor functional class or cyanosis, high-risk valve disease/left ventricular outflow tract obstruction, systemic ventricular dysfunction, no prior cardiac interventions); four lesion-specific (mechanical valves, high-risk aortopathies, pulmonary hypertension, coronary artery disease); and one delivery of care predictor (late pregnancy presentation).¹⁵ CARPREG II does not discriminate well between mild and severe disease which may, in the former case, be easily managed and, in the latter cases, life threatening and require hostile admission and preterm delivery. A second limitation of this tool is that it is based on a relatively low risk population which was managed by highly experienced teams in tertiary referral centres, which will not reflect every team's structure.^10,15

The ZAHARA was developed risk score was developed for women with CHD and added atrioventricular regurgitation and the use of cardiac medication to the CARPREG II study to improve accuracy.¹³

The ROPAC is organised by the European society of Cariology, and added heart failure and pre-pregnancy atrial fibrillation to the mWHO classification.¹³

Pre-pregnancy counselling

This is the first vital step in ensuring that women with cardiac disease have improved outcomes in pregnancy. Counselling should be individualised and offered to all women with pre-existing heart disease, and, ideally, this should be part of the paediatric care prior to transfer to adult cardiac services.^1,4,13 Contraceptive advice, long-term prognosis, effects of smoking, alcohol and drug use, weight management medical therapy, maternal risk of pregnancy,^3,13 fetal outcomes including risk of CHD, and possible modes of delivery should all be addressed.¹ In view of the breadth of discussions, they should involve both the cardiologist and obstetrician.^3,11

Contraception

Unplanned pregnancy has been found to be higher amongst women with CHD, therefore this needs to be an important part of any adolescent or pre-pregnancy counselling.¹⁶ Contraception is required for two patient categories, and they require different modes and counselling to be applied. Firstly, in women who want to get pregnant, it should be used to time pregnancy, so that their condition may be optimised or further investigated.¹³ Secondly, in those choosing not to get pregnant for a long period of time or at all, long-term or permanent contraception should be used.

Barrier contraceptives prevent sexually transmitted diseases, but are unreliable and should not be recommended for contraceptive purposes alone.¹³ Equally unreliable are withdrawal and natural family planning methods,¹⁶ but these methods do not carry any cardiovascular risks.

The combined progesterone and oestrogen oral contraceptive pill should be avoided as it increases both blood pressure and the risk of venous thromboembolism risks and is contraindicated in those with pre-existing hypertension.¹⁶ If oral contraception is required or preferred, then the progesterone only pill should be prescribed,¹³though this has the drawback of needing precises timing in administration potentially causing problems.

The most effective and safest forms of contraception for most of these women are long-acting reversible contraceptive such as Levonorgestrel implants or intra uterine devices (IUDs).¹⁶ In addition to contraception, these also reduce dysmenorrhoea, menorrhagia, anaemia and can improve pelvic pain in those with endometriosis. The insertion of any IUD must be done with care as clamping the cervix during insertion can cause a vasovagal reaction.¹⁶

In emergency situations a copper IUD, Levonorgestrel, or ulipristal acetate are all both reliable and safe and do not increase the risk of thrombosis.^13,16

Medication

Pre-pregnancy counselling is the ideal time to review medication for two reasons; it is an opportunity to ensure the patient is on the best possible treatment, and, it allows the alterations of any medications that are potential teratogens to treatment that is safe in pregnancy.¹³ Amiodarone, angiotensin converting enzyme inhibitors, angiotensin receptor blockers, spironolactone and DOAC drugs should be stopped prior to conception. Warfarin should be avoided between 6 and 12 weeks of pregnancy as it carries a significant risk of fetal warfarin syndrome, which is characterised by nasal hypoplasia and skeletal abnormalities (stippled epiphyses or abnormal bone formation).¹⁷Commonly used drugs in principle that are safe include betablockers, furosemide and low molecular weight heparin.

Valvular surgery

In women needing valve replacement surgery there should be a full discussion of the short- and long-term advantages and disadvantages of autografts, homografts, bioprosthetic and metallic heart valves. Autografts and homografts can be used for certain valve replacements. Bioprosthetic valves last for around 10 years, before they potentially require changing, however, in pregnancy, have the advantage of not requiring anticoagulation. Metallic valves can be viewed as a single surgical solution; however, they require lifelong anticoagulation, which, due to the increased risk of thrombosis in pregnancy (3.7–9.4%, even with perfect anticoagulation) requires close monitoring, adjustment and potential switching of anticoagulation.¹² These women remain high risk for obstetric haemorrhage at delivery and in the postpartum period.

Inheritable diseases

Genetic counselling should be sought in women with genetic syndromes, single gene defects, or autosomal dominant conditions, and where appropriate pre-implantation genetic diagnosis can be offered.¹²

Subfertility

Subfertility concerns should be discussed, as this often requires investigations which may impact the cardiac condition, e.g. diagnostic laparoscopy or hysteroscopy require expert anaesthetic input and carful abdominal/uterine distension. Equally, egg retrieval needs to be performed with care, with special consideration for those women on anticoagulation. Ovarian hyperstimulation syndrome causes fluid retention and a prothrombotic state that requires extra care to reduce their possible impacts.^12,13 Finally, there should be transfer of only a single embryo to reduce the incidence of multiple pregnancies which would further complicate the maternal cardiac aspect (greater cardiovascular changes) obstetric (higher risk of gestational hypertension (GH), pre-eclampsia (PET), gestational diabetes, preterm birth, need for Caesarean section and post-partum haemorrhage (PPH)) and fetal (higher risk of fetal abnormalities).¹³

Pregnancy not advised

In women where pregnancy is not recommended alternative options such as surrogacy and adoption should be discussed.^12,17 The laws for these will vary country to country. In addition, for women choosing to ignore such advice, emphasis should be made on the need to plan any pregnancy prior to conception with full disclosure to their cardiac and obstetrics teams to ensure optimisation of the cardiac condition is achieved prior to pregnancy being undertaken.¹

Maternal risks

Much of the pre-pregnancy counselling will be directed at the specific topic of the effects of pregnancy on the mother, as there is an up to eight-fold increase in pregnancy complications.¹⁸ Fortunately, in the developed world, maternal mortality remains low.¹³ A large European study showed that there was increased risk of maternal mortality of 0.6% in these women, however these mortality rates for condition specific with the highest rates occurring in those with pulmonary arterial hypertension.²

Not all the deaths were cardiac in origin, and some were unexplained. Of morbidities, heart failure (11%, 7% in the first postpartum week) and arrhythmias (2%), were the commonest complications, however, there were thrombosis, endocarditis and cardiac arrest in mechanical valve patients. A Canadian study found similar rates of mortality (0.4%). Interestingly, the study also noted that two-thirds of significant cardiac events took place in the antenatal period, during which time most arrhythmias, cardiovascular events, endocarditis and aortic dissections occurred. Heart failure was more common in the third trimester than the early postpartum period. The study also showed that women with undiagnosed CHD prior to pregnancy had significantly higher morbidity rates than those with known disease. Unsurprisingly, the higher the risk stratification score the more likely they were to be significant cardiac events.⁷ This study also went on to note that 49% of serious cardiac events were preventable, with around half all these events being mis- or late diagnosed, or inadequately managed heart failure. Similar studies have shown comparable findings.¹⁹

Normal vaginal delivery should be the default mode of delivery for most women, though data suggest that Caesarean section rates may be as high as 44%.² Vaginal delivery is associated with lower blood loss (and the associated intravascular volume changes), thrombosis and infection,¹⁷ thereby reducing the risk to woman compared to Caesarean section.

Fetal risks

There is an increased risk of cardiac defects in the offspring of affected mothers and fathers The risk depends on the underlying maternal condition, rising from a background risk of 1%⁴ to 4–5% for most non-genetic conditions and up to 50% in autosomal dominant conditions such as Marfan syndrome.^4,13Therefore, in some cases, genetic counselling should be considered.

Other fetal risks arise from pre-term delivery, small for gestational age and fetal growth restricted babies. Fetal Doppler studies may be abnormal in women with CHD, with one study showing that umbilical and uterine artery pulsatility index are raised in some patients. The study also showed that these women had more obstetric and neonatal adverse events then low risk women.²⁰

Obstetric risks

Women with cardiac disease have an increased risk of obstetric complications, including, prematurity,² GH, PET, and PPH).^1,4,19 All, but PPH, should be managed as in low risk pregnant women.

PPH drugs

The commonly used dungs for preventing PPH are oxytocinon, syntometrine, Carboprost and misoprostol. In conditions where vascular constriction will affect the cardiovascular system, syntometrine and Carboprost would be contraindicated and oxytocinon should be used in a controlled manner, by reducing the dose and increasing the time it is administered over.

The pregnancy heart team

The second vital step in ensuring that women have improved outcomes is that those with a moderate or high-risk of complications during pregnancy (mWHO II–III, III, and IV), pre-pregnancy counselling, antenatal, intrapartum and postnatal care should be conducted in an expert centre by a multidisciplinary Pregnancy Heart Team (PHT).^1,3,9 This should include cardiologists, obstetricians, obstetric physicians, fetal medicine experts, anaesthetists (cardiac and obstetric), neonatologists and specialist midwives. Access to geneticists, cardiothoracic and vascular surgeons, paediatric cardiologists and surgeons, haematologists, nurse specialist, pulmonary specialist, and others, where appropriate, complete the team¹^21–23

As these teams are super specialised, and only available in larger or regional centres, they can serve as a focal point for referrals and advice from other hospitals. Management plans can be made in these centres and then disseminated to other hospitals where care may be provided for lower risk women or in case of emergency.¹

Each member of the team focuses on their expert aspect of care, with reviews arranged appropriately, and risk reassessed continuously to ensure that any changes in the maternal or fetal condition are responded to rapidly. It is important that routine care by midwives is not overlooked as this forms the basis of safe and holistic antenatal care.

The team needs to plan the antenatal care ahead of time to ensure that women are seen in a timely and safe fashion, with more appointments for higher risk women than low risk women. Plans for delivery should be commenced early, with adaptations made in response to any changes in maternal or fetal conditions. The plan should include the place (those with moderate and severe complex heart disease should deliver in tertiary or quaternary centres), timing, and mode of delivery, intrapartum monitoring, management of complications, and a plan for postpartum care which should include location and duration of care.³ Most women will have a spontaneous labour and a vaginal delivery. Induction of labour from 39 weeks onwards can be considered to reduce the risks of maternal complications by remaining pregnant.³ Otherwise, other indications for antenatal, intrapartum and postnatal intervention, should be considered as for any other Obstetric patient.^3,4,13 Caesarean section as the default mode of delivery should be considered in women with an aortic dilatation where the root diameter >45 mm,¹³ women with severe pulmonary arterial hypertension, and women in acute decompensated heart failure who require urgent delivery. Severe aortic or mitral stenosis may also Anaesthetic require Caesarean section.³

Neonatal input should be obtained for any planned preterm deliveries, and discussion will be had regarding gestational age specific morbidity and mortality rates.

involvement should begin at the delivery planning stage which may include routine anaesthetic interventions such as epidural for pain relief (and its reduction in systematic vascular resistance and blood pressure),⁸ and in more complex cases required planned caesarean section discussions regarding balancing the risks of spinal, epidural or general anaesthetic.³

Postpartum care should be continued by the PHT, as they will have best knowledge of the patients antenatal and intrapartum pathway. Serious events can occur in the postpartum period in up to 25% of patients, therefore this is not a time for patient care to be compromised.²⁴ Heart failure, cardiomyopathy, and cardiac arrest can still occur at this late stage.^7,25 This time can be used to ensure that any further cardiovascular risk modifications can be made and ensure the mother is followed up appropriately by her cardiologist and be further educated on lifestyles and future pregnancies. Length of stays differ depending on the background cardiac disease, and can vary from two days and can be as long as 14 days. Postpartum hemodynamic changes should be monitored closely and the maternal response to these should be documented and acted on.³

Breastfeeding is safe and should be encouraged.⁸ Reasons to consider not recommending this will include reintroduction of pre-pregnancy or newly commenced drugs which are contraindicated in breast feeding, concerns regarding maternal fluid balance or maternal exhaustion. Though most drugs are safe, many will be present in the breast milk in small amounts. Information for all drugs and their suitability for breastfeeding can be found on the LactMed^® database.⁸

While the team-based approach has been shown to have encouraging maternal outcomes with a low rate of postnatal readmission rates, research is still required to understand how to optimise team performance and the impact of team-based care on patient outcomes.^21,26

Footnotes

ORCID iD

Spyros Bakalis

Funding

The authors received no financial support for the research, authorship, and/or publication of this article.

Declaration of conflicting interests

The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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