Background: The total number of adults with congenital heart disease (ACHD) can be estimated at 13 million, about 330,000 of them in Germany. There are major research shortfalls in relation to sex-/gender differences in patients with congenital heart defects (CHD), although there is sufficient evidence, that differences in this regard can influence treatment decisions and medical health care. 

Aim: Therefore, the aim of the present study was to assess and evaluate sex-/gender-specific differences in a large ACHD cohort of 3.880 patients (53.6% female; 41.9 ± 17.1 [18 - 97] years).

Methods: In a cross-sectional, patient-reported, questionnaire-based study, sex- and gender-related differences concerning the underlying CHD, comorbidities, the medical health care situation, individual needs for counselling as well as quality of life (QoL) were assessed from June 2016 to October 2019.

Results: Significant differences were observed concerning the patient reported sex distribution with a female predominance in tetralogy of Fallot (p=.022), atrial septal defects (p=.001) and persistent ductus arteriosus (p=.027) and a male predominance in aortic valve stenosis/-insufficiency (p=.001) and transposition of the great arteries (p=.001) as leading CHD. The prevalence of coronary artery disease was significantly higher in males (p=.032), whereas females reported a higher prevalence of comorbidities overall (p<.001), pulmonary hypertension (p<.001), cardiac arrhythmias (p<.001) and neurologic restrictions (p=.031). Males with CHD consulted their primary care physician (e.g. general practitioners) more often than woman if a medical problem concerning the CHD was suspected (57.4% vs. 50.3%; p<.001). Females were less aware of CHD specialized institutions (44.4% vs. 40.1%, p=.007). Males and females had a high counselling demand with significant sex-/gender differences in regard to pension, severe handicaps, rehabilitation measures, resilience in everyday life, driving license, airworthiness, pregnancy, genetic counselling and exercise capacity. In terms of QoL, females reported greater impairments than men, especially in the dimensions of everyday activities, pain/physical complaints and anxiety/depression (p<.05). 

Conclusion: There are major sex- and gender differences in ACHD. Based on the patient reported outcome measures, different needs must be considered for future medical consulting and treatment. Not only dedicated CHD specialists, but also primary care physician must be sensitised about the importance of sex-/gender differences in ACHD, since particularly they are the first contact persons for arising medical questions in the majority of ACHD.