Procreation procedures in France to avoid the transmission of hereditary heart diseases (PROCREACOEUR Study)

Introduction Hereditary heart diseases (cardiomyopathy & channelopathies) are most often characterized by autosomal dominant inheritance and delayed cardiac expression. The risk of complications of these diseases are sudden cardiac death and heart failure. Medical management allow to reduce significantly, but does not cancel, the risk of complications. If the causal mutation is known, couples with a pregnancy project may discuss the use of prenatal genetic diagnosis (PND) or preimplantation genetic diagnosis (PGD). The use of PND or PGD in these diseases is controversial and the medical, ethical and psychological issues are particularly complex. Purpose The aim of this study was (i) to collect at national level the procedures of PNDs and PGDs in the context of “isolated” hereditary heart disease; (ii) obtain the opinion of patients about this issue. Methods and Results The data collected with help of the French Biomedicine Agency show that 18 PND were carried out in France between 2009 and 2017 and 13 PGD between 2013 and 2017. So, number of PND and PGD for hereditary heart disease is rare in comparison of the relatively high prevalence of these diseases. The opinion of 20 patients (95% with cardiomyopathy), followed at Pitie-Salpetriere referral center for hereditary heart diseases, was prospectively collected via auto-questionnaires. Their answers show that few know the options (PND, PGD, gamete donation, adoption): only 25% are aware of all the alternatives. Despite this, 45% of patients mentioned that they did not want more information about these procreation options. Moreover, 45% consider the use of a PND to be fully acceptable or acceptable and 75% for the use of PGD, although they would not ask for themselves. Conclusions We report the first data about procreation procedures in France, and wishes of patients, in non-syndromic hereditary heart diseases. This may help to better manage these complex issues in clinical practice.