Evaluation of contraceptive methods in women with congenital heart disease in Germany, Hungary and Japan

Aims For women with congenital heart defects (CHD), pregnancy may pose a health risk. Sexually active women with CHD without the desire for own children or for whom pregnancy would imply considerable health risks require adequate counselling regarding appropriate contraception. This study gathers data on the contraceptive behaviour of women with CHD from three different cultural regions. Methods and results 634 women with CHD from Germany, Hungary and Japan were surveyed regarding contraception and contraceptive methods (CM) used. The patients were divided into groups according to different criteria such as pregnancy associated cardiovascular risk or "safety" of the contraceptive methods used. 59% of the study participants had already gained experience with CM. The average age at the first time of use was 18.4 years; the German patients were significantly younger at the first time of using a CM than those from Hungary and Japan. Overall the condom was the method used the most (38%), followed by oral contraceptives (30%) and coitus interruptus (11%). The range of CM used in Japan was much smaller than that in Germany or Hungary. Unsafe contraceptives were currently, or had previously been used, by 29% of the surveyed patients (Germany: 25%, Hungary: 37%, Japan: 32%). Conclusion Most women with CHD use CM. There are differences between the participating countries. Adequate contraceptive counselling of women with CHD requires considering the individual characteristics of each patient, including potential contraindications. For choosing an appropriate CM, both the methods' "safety", as well as the maternal cardiovascular risk, are important. © 2015 Elsevier Ireland Ltd

Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7

Ebstein's anomaly is a rare congenital heart malformation characterised by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. Associated abnormalities of left ventricular morphology and function including left ventricular noncompaction (LVNC) have been observed. An association between Ebstein's anomaly with LVNC and mutations in the sarcomeric protein gene MYH7, encoding β -myosin heavy chain, has been shown by recent studies. This might represent a specific subtype of Ebstein's anomaly with a Mendelian inheritance pattern. In this review we discuss the association of MYH7 mutations with Ebstein's anomaly and LVNC and its implications for the clinical care for patients and their family members

What does a genetic syndrome associated CHD in comparison with CHD patients mean for clinical practice? A cross-sectional study by the German National Register for Congenital Heart defects

Abstract Introduction About 20% of all patients with congenital heart disease (CHD) showing other malformations and abnormalities. They have an increased likelihood for a genetic disorder which is either hereditary or firstly occurred spontaneously. Especially the influence of a genetic syndrome for clinical practice in CHD patients is of particular importance. Purpose This cross-sectional registry study focusses patients with CHD in comparison with patients having the most frequent genetic syndrome associated CHD, registered with the National Register for Congenital Heart Defects (NRCHD), to identify whether they are at higher risk for secondary diagnoses (SD), more surgeries and interventional treatments or not. Methods By using the NRCHD medical database at the date of 12 Feb 2020, out of a total of 55687 registered CHD patients, 34004 patients with CHD up to thirty years were identified. 28478 (female 48.1%; 16.1±7.0 years) CHD patients without any hereditary fetal or neonatal secondary diagnosis (HFN) representing the control group (CG) and 5526 (female 51.8%; 13.7±6.6 years) CHD patients with HFN were included in the statistical analyses. SD were defined and classified by using the International Paediatric and Congenital Cardiac Code (IPCCC). The CHD severity classification of Warnes at al. was used. Statistical analyses were conducted using a multinomial logistic regression model. Results Out of the 5526 CHD patients with HFN, the most frequent genetic syndromes associated with CHD were Trisomy 21 (1645 (4.8%); simple 300 moderate 974 complex 371), Catch 22-syndrome (306 (0.9%); simple 11 moderate 132 complex 163), Noonan syndrome (93 (0.3%); simple 13 moderate 71 complex 9) and Williams-Beuren syndrome (88 (0.3%); simple 2 moderate 82 complex 4). Regarding Trisomy 21 they have a significantly reduced risk of 26.8% for having a number of interventional treatments as high as the CG (OR:0.73 95% CI:0.60–0.89; p=0.002). In Catch 22-syndrome patients a higher risk for acquired secondary diagnosis of 17.6% (OR:1.17 95% CI:1.05–1.31; p=0.004) as well as for interventional treatments of 6.9% (OR:1.06 95% CI:1.01–1.14; p=0.033) was found. A 28.6% higher risk for an increased number of extracardiac secondary diagnoses was shown in Noonan syndrome patients (OR:1.29 95% CI:1.06–1.56; p=0.010). Patients with Williams-Beuren syndrome are at 52.1% decreased risk for having a number of surgeries as high as the CG (OR:0.48 96%CI:0.28–0.83; p=0.008) but a higher risk for a higher number of interventional treatments of 20.5% (OR:1.21 95% CI:1.06–1.37; p=0.004). Conclusions Patients with genetic syndrome associated CHD could be assumed being at higher risk for secondary diagnosis, however, this holds true for Noonan syndrome and Catch 22-syndrome patients but not for patients with Trisomy 21 or Williams-Beuren syndrome. It would be necessary to monitor the genetic syndrome associated with CHD patients whether these findings change when they reaching older ages. Funding Acknowledgement Type of funding source: None </jats:sec