scholarly journals Congenital heart disease and pregnancy

2019 ◽  
Vol 4 (3) ◽  
pp. 102-112
Author(s):  
E. V. Rudaeva ◽  
V. G. Mozes ◽  
V. V. Kashtalap ◽  
I. S. Zakharov ◽  
S. I. Yelgina ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Intrauterine Growth Restriction ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Heart Defects ◽  
Intrauterine Growth ◽  
Increased Risk ◽  
Different Populations ◽  
European Society Of Cardiology

Annually, there > 30,000 infants are born with congenital heart defects; in different populations, the prevalence of congenital heart disease (CHD) varies from 2.4 to 14.15%. Women with CHD planning pregnancy are at increased risk of heart failure, arrhythmias, cerebrovascular disease, and embolism. In such patients, pregnancy course is complicated by intrauterine growth restriction, pre-eclampsia, and preterm birth. Their newborns generally have a low birth weight and high risk of congenital malformations including heart defects. European Society of Cardiology (ESC) developed risk assessment-based guidelines to optimise the management of pregnant women with CHD. This approach requires a cooperation of obstetrician-gynecologists, general practitioners, and cardiologists.

scholarly journals Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

2021 ◽  
Vol 11 (6) ◽  
pp. 562
Author(s):  
Olga María Diz ◽  
Rocio Toro ◽  
Sergi Cesar ◽  
Olga Gomez ◽  
Georgia Sarquella-Brugada ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Genetic Diagnosis ◽  
Single Nucleotide Variants ◽  
Personalized Approach

Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach.

scholarly journals Cardiac Complications during Pregnancy Related to Parity in Women with Congenital Heart Disease

Cardiology ◽  
2020 ◽  
Vol 145 (8) ◽  
pp. 533-542
Author(s):  
Eva Furenäs ◽  
Peter Eriksson ◽  
Ulla-Britt Wennerholm ◽  
Mikael Dellborg
Keyword(s):  
Heart Failure ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Defects ◽  
Adult Congenital Heart Disease ◽  
Cardiac Complications ◽  
Increased Risk ◽  
Adult Congenital ◽  
Per Se

Objective: To describe the frequency of cardiac complications during pregnancy related to parity in women with congenital heart defects. Methods: A retrospective tertiary single-center study at the Adult Congenital Heart Disease Centre that followed 307 women with congenital heart disease during the years 1997–2015 in Gothenburg, Sweden. Ma­ternal cardiac complications were noted for each pregnancy using medical and obstetric records. The CARPREG I and modified WHO (mWHO) risk classifications were used. Twin pregnancies, miscarriages before gestational week 13, and pregnancy terminations were excluded. Results: Five hundred seventy-one deliveries and 9 late miscarriages were analyzed. The mean parity was 1.74 per woman (range 1–8). Eighty-four (14.6%) maternal cardiac complications were experienced; arrhythmia (5.7%) and heart failure (4.4%) being the most prevalent, and there was 1 maternal death. Heart failure occurred during the first pregnancy in 12 women (3.9%), in the second pregnancy in 8 women (4.3%), and in the third pregnancy in 4 women (7.7%). CARPREG I and mWHO scores were associated with an increased risk of having a cardiac complication, while parity per se was not associated. The OR for having a maternally uneventful second pregnancy if the first pregnancy was without cardiac complications was 5.47 (95% CI 1.76–16.94) after controlling for CARPREG I and mWHO scores. Conclusion: The risk of severe maternal cardiac complications during pregnancy in women with congenital heart disease is low. In this largest analysis to date with a focus on parity in 307 women, the risk classification predicts the maternal outcome more than parity per se. If the first pregnancy is uneventful, the OR is 5.5 for an uneventful second pregnancy if CARPREG I and mWHO scores remain unchanged.

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