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hyperstimulation syndrome can be reduced by careful cycle monitoring, using low-dose follicle-stimulating hormone in combination with a gonadotropin-releasing hormone antagonist, freezing all embryos, and only transferring a single embryo. The last option is strongly advised in women with heart disease, since conceiving a multiple pregnancy is associated with greater cardiovascular changes and more maternal and foetal complications.138 Pregnancy and fertility treatment are contraindicated in women with mWHO classification of maternal cardiovascular risk class IV.43 In women with mWHO class III, or those who are anticoagulated, the risk of superovulation is very high and the alternative of natural cycle in vitro fertilization should be considered. Sexuality is an important element of quality of life. The few available data suggest that sexual function is a concern in both women and men and should be discussed more often.139

3.5.7.2 Genetic counselling and recurrence risk Genetic counselling, whether supplemented with further genetic testing or not, should at least be considered for every ACHD patient. Demonstrating a genetic abnormality can be important to further adjust the patient’s own management and is evidently also important for family planning. It is estimated that 1030% of all structural CHD would have a genetic basis. This rate is higher in cases of associated organ disorders and familial occurrence, and lower in isolated cases. With the rapid technical progress and possibilities of genetic testing, the reliability of these tests is further improving. Naturally, genetic elaboration in each patient must be multidisciplinary, with integration of necessary clinical data and adequate interpretation of found genetic variants. A detailed consensus document on this subject, providing an algorithm for genetic testing and an overview of the main syndromes to consider, has recently been published.140 One of the important and specific aspects of genetic counselling is the assessment of recurrence risk, which needs consideration in both men and women. The recurrence rate of CHD in offspring ranges from 250% and is higher in affected women than men. The highest recurrence risks are found in single gene disorders and/or chromosomal abnormalities such as Marfan, Noonan, 22q11 deletion syndrome, and Holt-Oram syndrome. Among patients with isolated,

Table 10 Congenital heart disease with high risk and extremely high risk for pregnancy

Significantly increased risk of maternal mortality or severe morbidity (mWHO class III) (cardiac event rate 1927%) Extremely high risk of maternal mortality or severe morbidity (mWHO class IV)a (cardiac event rate 40100%) Unrepaired cyanotic heart disease Pulmonary arterial hypertension Moderate LV impairment (EF 3045%) Severe LV impairment (EF <30% or NYHA class IIIIV) Systemic RV with good or mildly decreased ventricular function Systemic RV with moderate or severely decreased ventricular

function

Fontan circulation. If the patient is otherwise well and the cardiac condition uncomplicated Fontan with any complication Severe asymptomatic AS Severe symptomatic AS Moderate mitral stenosis Severe mitral stenosis Moderate aortic dilatation (4045 mm in Marfan syndrome or other HTAD; 4550 mm in BAV, 2025 mm/m2 in Turner syndrome) Severe aortic dilatation (>45 mm in Marfan syndrome or other

HTAD, >50 mm in BAV, >25 mm/m2 in Turner syndrome)

Mechanical valve Severe (re-)coarctation AS = aortic stenosis; ASI = aortic size index; BAV = bicuspid aortic valve; CHD = congenital heart defect; EF = ejection fraction; HTAD = heritable thoracic aortic disease; LV = left ventricle/ventricular; mWHO = modified World Health Organization; NYHA = New York Heart Association; RV = right ventricle/ventricular; TOF = tetralogy of Fallot. aPregnancy should definitely be avoided in women with these conditions. Modified from the 2018 ESC guidelines for the management of cardiovascular disease during pregnancy.43

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Table 11 Recurrence rates for various congenital heart lesions according to the sex of the affected parenta

Recurrence rate (%)* Women Men

ASD 46 1.53.5 VSD 610 23.5 AVSD 11.514 14.5 PDA 3.54 22.5 CoA 46.5 23.5 Marfan/HTAD 50b LVOTO 818 34 RVOTO (PS) 46.5 23.5 Eisenmenger syndrome 6 NR TOF 22.5 1.5 Pulmonary atresia/VSD NR NR TGA 2b ccTGA 35b UVH (HLHS) 21b ASD = atrial septal defect; AVSD = atrioventricular septal defect; ccTGA = congenitally corrected transposition of the great arteries; CHD = congenital heart disease; CoA = coarctation of the aorta; HLHS = hypoplastic left heart syndrome; HTAD = heritable thoracic aortic disease; LVOTO = left ventricular outflow tract obstruction; NR = not reported; PDA = patent ductus arteriosus; PS = pulmonary stenosis; RVOTO = right ventricular outflow tract obstruction; TGA = transposition of the great arteries; TOF = tetralogy of Fallot; UVH = univentricular heart; VSD = ventricular septal defect. *Except for Marfan syndrome, rates apply to patients with isolated cardiac lesions in whom known genetic/syndromic entities have been excluded. aModified from Pierpont et al.141 bSex-specific data not available or not relevant. Downloaded from academic.oup.com/eurheartj/article/42/6/563/5898606 by guest on 07 October 2026