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Nonimmune Hydrops Fetalis
Published in Vincenzo Berghella, Maternal-Fetal Evidence Based Guidelines, 2022
Chelsea DeBolt, Katherine Connolly, Mary E. Norton, Joanne Stone
Bradyarrhythmias are most commonly the result of congenital heart block, either from an autoimmune cause or structural abnormalities affecting cardiac conduction. Transplacental passage of maternal antibodies associated with autoimmune diseases is seen in 30–50% of these cases. They can be present in association with anti-Sjogren's- syndrome-related antigen A (anti-Ro) or the combination or anti-Ro/SSA and anti-La/SSB antibodies (see Chapter 27) [1]. Structural abnormalities such as endocardial cushion defects in the setting of heterotaxy syndrome can also interfere with cardiac conduction and lead to heart block. Complete fetal heart block can lead to hydrops when the fetal heart rate is below 60 beats per minute. There have been several case reports showing successful prevention of hydrops after maternal administration of beta-sympathomimetics, such as terbutaline, though data are very limited [11, 12]. Corticosteroids have also been studied as possible treatment for fetal heart block and shown not to be effective in reversing third-degree block or preventing progression from second- to third-degree block [13]. At this time, in utero treatment of fetal hydrops as a result of fetal bradyarrhythmia is not recommended [1].
Congenital Heart Disease in Pregnancy
Published in Afshan B. Hameed, Diana S. Wolfe, Cardio-Obstetrics, 2020
The patient should be counseled in detail regarding the following: The risk of maternal and fetal adverse outcomes during pregnancy and postpartum period.The potential for adverse long-term outcomes after pregnancy such as the risk of worsening ventricular function in patients with systemic ventricular dysfunction, and the risk for progressive aortic dilation due to pregnancy.Offspring of parents with congenital defects are at a higher risk for congenital heart defects. For those with de novo mutation, risk of CHD recurrence for most lesions is 3%–5%, though the relative risk is higher in patients with atrioventricular septal defect and left ventricular outflow tract obstructive lesions. The relative risk of recurrence is 80-fold for patients with heterotaxy syndrome [23]. Genetic counseling should be offered to patients with known heritable conditions, such as Marfan syndrome, Holt-Oram, Noonan, Alagille, CHARGE, 22q11.2 microdeletion, and Williams syndrome.
Functionally single ventricle, Fontan procedure – univentricular heart/circulation
Published in Jana Popelová, Erwin Oechslin, Harald Kaemmerer, Martin G St John Sutton, Pavel Žáček, Congenital Heart Disease in Adults, 2008
Jana Popelová, Erwin Oechslin, Harald Kaemmerer, Martin G St John Sutton, Pavel Žáček
The heterotaxy syndrome accounts for some 2% of all CHD (see Chapter 23 for more details). In this syndrome, the heart usually has a common atrium, a complete AV septal defect, a common AV valve, and often a common, morphologically right ventricle (Figures 15.10-15.12). The pulmonary artery usually has valvular and subvalvular stenosis. Patients with this syndrome usually have systemic and pulmonary vein anomalies, and the coronary sinus may be absent. Often a right and a left superior vena cava are present. The inferior vena cava is often absent, and it is drained via the venous azygos or hemiazygos systems to the superior vena cava. Hepatic veins empty into the common atrium directly and separately (Figure 15.13). Patients with interruption of the inferior vena cava may undergo Fontan procedure by connecting the vena cava superior with blood flowing from the azygos vein (or, alternatively, from both venae cavae superior) to the right branch of the pulmonary artery. The result is cavo-pulmonary anastomosis according to Kawashima.
Perinatal outcomes of pregnancies with prenatally diagnosed foetal congenital heart disease
Published in Journal of Obstetrics and Gynaecology, 2022
Riza Madazlı, Ebru Alıcı Davutoglu, Verda Alpay, Didem Kaymak, Hakan Erenel, Funda Oztunc
In our series of foetal structural CHD, 14.9% of cases were found to have a chromosomal abnormality, an incidence comparable to that in other reports (Körner et al. 1997; Song et al. 2009). Trisomy 21 was the most common chromosomal abnormality and the following anomalies according to the frequency were trisomy 18, 13 and 22q11 microdeletion, consistent with previous data (Perolo et al. 2001; Song et al. 2009; Dolk et al. 2011). Certain foetal CHD are more likely to be associated with chromosomal abnormalities, with the most common chromosome abnormality detected in the AVSD group (%42.3) which is in accordance with the literature (Boldt et al. 2002; Devadasan et al. 2018). For other lesions such as heterotaxy syndrome, TGA and DILV/RV, we did not find a chromosomal abnormality, similar to those reported by Song et al. (2009).
Investigating the role of EGF-CFC gene family in recurrent pregnancy loss through bioinformatics and molecular approaches
Published in Systems Biology in Reproductive Medicine, 2021
João Matheus Bremm, Juliano André Boquett, Marcus Silva Michels, Thayne Woycinck Kowalski, Flávia Gobetti Gomes, Fernanda Sales Luiz Vianna, Maria Teresa Vieira Sanseverino, Lucas Rosa Fraga
The EGF-CFC1 (Epidermal Growth Factors – Cripto/FRL-1/Cryptic) gene family encodes a class of extracellular proteins associated with the cell membrane that play important roles during embryonic development (Colas and Schoenwolf 2000). In humans, this family includes two proteins: Cripto and Cryptic (Shen and Schier 2000). Cripto is encoded by the TDGF1 (Teratocarcinoma-derived Growth Factor 1) gene and plays a key role in the formation and correct positioning of the anteroposterior axis of the embryo, and has its expression increased during pregnancy and lactation in adult tissues (Bianco and Salomon 2010; De Castro et al. 2010). CFC1 (Cripto, FRL-1, Cryptic family 1) gene, which encodes the Cryptic protein, is active during embryonic development and presents a spatially-temporally restricted expression pattern according to its signaling functions during gastrulation. Studies using mutant mice for CFC1 show defects of asymmetry in almost all left-right morphogenesis (Shen and Schier 2000). Similarly, the relationship between mutations in the CFC1 gene and Heterotaxy Syndrome (HS) has also been reported in humans (Cao et al. 2015).
Heterotaxy Syndrome with Increased Nuchal Translucency and Normal Karyotype Associated with Complex Systemic Venous Return. Ultrasound Diagnosis with Autopsy Correlation
Published in Fetal and Pediatric Pathology, 2022
Gabriele Tonni, Maria Paola Bonasoni, Gianpaolo Grisolia, Maria Bellotti, Edward Araujo Júnior
Heterotaxy syndrome represents 0.4–2% of all CHDs and carries a poor prognosis (75–90%) when associated with complete atrioventricular block and sinus bradycardia and congestive heart failure [20–25]. Escobar-Diaz et al. [21] described, in a review of 154 fetuses with heterotaxy syndrome, 22 with an atrioventricular block/sinus bradycardia; of the 19 ongoing pregnancies, 7 (36,8%) were associated with hydrops and hydrops resulted in a significant increased perinatal risk factors for either fetal intrauterine demise (p= .009) or postnatal mortality (p= .002), in agreement with data from Berg et al. [26].