Planning for a family and managing a subsequent pregnancy in a patient with a diagnosis of an inherited cardiac condition entails timely and comprehensive discussions with the patient, their partner or significant other and the multidisciplinary team. There will be many aspects that need consideration apart from the physiological impacts of a pregnancy and should include psychological support and discussion of genetic risks and options for genetic testing in an offspring. The specialist nurse plays a vital role in providing holistic care and ensuring input from the MDT in these aspects.

Pre-pregnancy counselling

Following the recommendations of the ESC Guidelines for the management of cardiovascular disease and pregnancy ¹, women should receive pre-pregnancy counselling which includes education around maternal, foetal and inheritance risk. As part of the core or extended Pregnancy Heart Team, Specialist nurses who run transition clinics or those who care for teenagers and young adults are well-placed to provide initial advice on reproductive health, including contraception, which ideally should be at the time of menarche.

A referral pathway to the core Pregnancy Heart team should be established for a comprehensive risk assessment utilising the modified World Health Organisation (mWHO) 2.0 classification. Once a personalised pregnancy-related risk assessment has been completed, the nurse can support the monitoring and reporting of any changes that could impact their risk status. This would include changes in functional status, medications and non-cardiac risk factors such as new co-morbidities, change in smoking status, body mass index fluctuations or changes in personal circumstances that will affect logistics of care. Maintaining an open dialogue and a shared decision-making approach with the patient will ensure that maternal preferences are thoroughly explored alongside a contemporaneous plan in the event of a pregnancy.

Genetic counselling

Most inherited cardiac conditions have a preponderance for autosomal dominant transmission which conveys a 50% risk for the offspring. Knowledge of an underlying pathogenic/likely pathogenic variant through genetic testing would be key to supporting better planning and improved outcomes for a pregnancy, as well as the opportunity to offer reproductive options such as prenatal testing or pre-implantation genetic diagnosis. Genetic testing should therefore be offered pre-pregnancy to affected individuals from professionals with expertise in genetic testing and counselling ².

Post-test genetic counselling should reiterate how results can support cascade testing in family members and facilitate prenatal or pre-implantation genetic diagnosis. Any decision to proceed with the next steps on these aspects require a thorough discussion with an expert multi-disciplinary team. A personalised approach to ensure autonomy and informed consent is ideal. This should take into account specific features of the condition, patient preferences, cultural, religious, legal and ethical frameworks and accessibility of technologies within the individual setting. Early referrals for these options should be made as they typically have an extended time scale.

Signposting to relevant patient support groups can also be helpful for patients for practical advice and peer support.

Pregnancy and delivery

A timely referral to the Pregnancy Heart Team should ensure that all risks are mitigated and adjustments are made accordingly to ensure an uneventful pregnancy and delivery. A key role of the Specialist nurse is to be aware of any red flags that would warrant urgent attention. Table 1 illustrates common signs and symptoms observed in pregnancy and serves as guide to distinguish between normal physiological responses and signs of heart failure ³. There may be more personalised guidance for those affected by specific ICCs which would be important to be aware of.

Particularly in conditions which require continued medications such as beta-blockers in Long QT Syndrome, the Specialist nurse can help reinforce advice on medication regimes and help allay fears on the effects on the foetus.

In a patient with a known pathogenic variant, testing of a newborn through cord blood may be an option but only in circumstances where a result can change clinical care such as in inherited arrhythmias. However, genetic counselling should have been facilitated at a much early stage to ensure informed consent and a seamless pathway for testing of the newborn.

Post-partum and long-term

Close follow-up of women post-partum is essential to ensure return to homeostasis and support breastfeeding and lactation. The Specialist nurse should provide education to ensure patients are aware of signs of decompensation and heart rhythm changes to ensure these are acted upon in a timely manner. Information and reassurance for essential medications that need to continue during breastfeeding should also be provided, as well as advice on contraception.

Offspring are at 50% risk for heritable cardiac conditions and therefore routine checks should include relevant tests such as an ecg or echocardiogram ⁴.

Care planning at this stage should include plan for long-term follow-up for both patient and offspring.

Conclusion

Pregnancy is an important decision and milestone for any individual and for those affected by an inherited cardiac condition this is compounded by clinical concerns as well as other psychological factors such as guilt of possibly passing on a condition and worry about how medications can affect foetal development. Early input into reproductive health, referral to the Heart Pregnancy Team and provision of genetic counselling will support comprehensive planning and shared decision making, facilitating patient choice and optimal outcomes.