Abstract Double anueploidy, involving both trisomy 18 and Klinefelter syndrome at the same time, is a rare event, in which the features of Edwards syndrome dominate the clinical picture. We describe a patient, who was diagnosed in the 8th gestational week with a seemingly normal intrauterine pregnancy with “chorionic bump”. In the 12th week the following abnormalities were diagnosed by ultrasound: Increased nuchal translucency (4.7 mm), increased anteroposterior diameter of the fourth ventricle and increased diameter of the third ventricle of the brain, mesocardia and cardiomegaly. The CVS karyotype revealed 48,XXY,+18 karyotype. In our opinion, the increased anteroposterior diameter of the fourth ventricle of the brain in this fetus was probably an early manifestation of the Dandy-Walker malformation (unproven because of early pregnancy termination), which is typical of Edwards syndrome fetuses. We consider the increased anteroposterior diameter of the fourth ventricle of the brain in the first trimester fetus as an indication for fetal karyotyping and further detailed imaging studies.
{"title":"Double aneuploidy with karyotype 48,XXY,+18 in first trimester fetus - case report","authors":"L. Dudarewicz, U. Wysocka, L. Jakubowski","doi":"10.12847/06144","DOIUrl":"https://doi.org/10.12847/06144","url":null,"abstract":"Abstract Double anueploidy, involving both trisomy 18 and Klinefelter syndrome at the same time, is a rare event, in which the features of Edwards syndrome dominate the clinical picture. We describe a patient, who was diagnosed in the 8th gestational week with a seemingly normal intrauterine pregnancy with “chorionic bump”. In the 12th week the following abnormalities were diagnosed by ultrasound: Increased nuchal translucency (4.7 mm), increased anteroposterior diameter of the fourth ventricle and increased diameter of the third ventricle of the brain, mesocardia and cardiomegaly. The CVS karyotype revealed 48,XXY,+18 karyotype. In our opinion, the increased anteroposterior diameter of the fourth ventricle of the brain in this fetus was probably an early manifestation of the Dandy-Walker malformation (unproven because of early pregnancy termination), which is typical of Edwards syndrome fetuses. We consider the increased anteroposterior diameter of the fourth ventricle of the brain in the first trimester fetus as an indication for fetal karyotyping and further detailed imaging studies.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125134330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.5114/PCARD.2020.102254
J. Komorowski, M. Moll, M. Kopała
Prenatal diagnosis and the surgical treatment of the patient with complex aortic and mitral valve disease are rarely presented in scientific literature. At the 30 th week of gestation a 34-year-old multigravida multipara was referred by a primary care obstetrician for a detailed ultrasound examination with a suspicion of complex aortic and mitral valve disease. The patient was born with critical aortic stenosis and mitral valve insufficiency and decreased left ventricular (LV) contractility due to endocardium fibroelastosis. On the second day of life the patient underwent balloon aortic valvuloplasty in the cath lab. At 3 months of age the patient underwent surgery. Mitral valve plasty and anterior left ventricular outflow tract (LVOT) incision were performed. At the age of 9 months the patient revealed circulatory insufficiency caused by mitral stenosis and recurrent insufficiency, and was qualified for implantation of a mechanical valve in the mitral position. Intraoperatively it was noted that mitral annulus was too small to implant a mechanical valve, so a biological valve was prepared with the CMx ECM on the operating table. The implantation of a CMx biological valve custom-made on the operating table was the bridge of surgical treatment for implantation of a mechanical valve in the future. The patient successfully underwent surgery. At 3 years old, we replaced the CMx valve with a mechanical St. Jude. This new pathway of cardiac surgery repairs in the first year of life might be an important issue for counselling parents-to-be after detection and diagnosis of prenatal congenital heart defects, such as in the presented case: abnormal aortic and mitral valve.
{"title":"An unusual pathway of cardiac surgery repair of aortic and mitral valve – case report","authors":"J. Komorowski, M. Moll, M. Kopała","doi":"10.5114/PCARD.2020.102254","DOIUrl":"https://doi.org/10.5114/PCARD.2020.102254","url":null,"abstract":"Prenatal diagnosis and the surgical treatment of the patient with complex aortic and mitral valve disease are rarely presented in scientific literature. At the 30 th week of gestation a 34-year-old multigravida multipara was referred by a primary care obstetrician for a detailed ultrasound examination with a suspicion of complex aortic and mitral valve disease. The patient was born with critical aortic stenosis and mitral valve insufficiency and decreased left ventricular (LV) contractility due to endocardium fibroelastosis. On the second day of life the patient underwent balloon aortic valvuloplasty in the cath lab. At 3 months of age the patient underwent surgery. Mitral valve plasty and anterior left ventricular outflow tract (LVOT) incision were performed. At the age of 9 months the patient revealed circulatory insufficiency caused by mitral stenosis and recurrent insufficiency, and was qualified for implantation of a mechanical valve in the mitral position. Intraoperatively it was noted that mitral annulus was too small to implant a mechanical valve, so a biological valve was prepared with the CMx ECM on the operating table. The implantation of a CMx biological valve custom-made on the operating table was the bridge of surgical treatment for implantation of a mechanical valve in the future. The patient successfully underwent surgery. At 3 years old, we replaced the CMx valve with a mechanical St. Jude. This new pathway of cardiac surgery repairs in the first year of life might be an important issue for counselling parents-to-be after detection and diagnosis of prenatal congenital heart defects, such as in the presented case: abnormal aortic and mitral valve.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134025534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
K. Zych-Krekora, A. Wójtowicz, M. Krekora, M. Słodki, Hugues Gentillon, M. Respondek-Liberska
Abstract It was the second pregnancy of an otherwise healthy married couple. The fetus (male) had detailed echocardiography monitoring in the second half of the pregnancy due to progression of cardiomegaly, and echocardiographic features of congestive heart failure. Marfan syndrome was suspected based on cardiac anomalies. For the first time, the rupture of aneurysm of aortic sinus Valsalva was documented. Despite transplacental treatment with digoxin there was fetal demise at the 34th week of gestation and postmortem newborn phenotype confirmed prenatal diagnosis. Marfan Syndrome is a rare genetic anomaly which can be diagnosed prenatally by detailed echocardiography, usually with bad prognosis (just opposite to “benign” case diagnosed later on in life span). The most common prenatal cardiac manifestations are cardiomegaly with signs of cardiac insufficiency. We present the case with new echocardiographic features.
{"title":"Case report. Longitudinal Echo Monitoring in Fetus with Phenotypical Marfan Syndrome, Helpfull for Perinatal Management - Case Presentation and Literature Review","authors":"K. Zych-Krekora, A. Wójtowicz, M. Krekora, M. Słodki, Hugues Gentillon, M. Respondek-Liberska","doi":"10.1515/pcard-2016-0010","DOIUrl":"https://doi.org/10.1515/pcard-2016-0010","url":null,"abstract":"Abstract It was the second pregnancy of an otherwise healthy married couple. The fetus (male) had detailed echocardiography monitoring in the second half of the pregnancy due to progression of cardiomegaly, and echocardiographic features of congestive heart failure. Marfan syndrome was suspected based on cardiac anomalies. For the first time, the rupture of aneurysm of aortic sinus Valsalva was documented. Despite transplacental treatment with digoxin there was fetal demise at the 34th week of gestation and postmortem newborn phenotype confirmed prenatal diagnosis. Marfan Syndrome is a rare genetic anomaly which can be diagnosed prenatally by detailed echocardiography, usually with bad prognosis (just opposite to “benign” case diagnosed later on in life span). The most common prenatal cardiac manifestations are cardiomegaly with signs of cardiac insufficiency. We present the case with new echocardiographic features.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"57 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133381804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.5114/pcard.2021.108875
Joseph Carl M. Macalintal, Maria Rosario Castillo-Cheng, Dexter D. Cheng
{"title":"Transplacental therapy of supraventricular tachycardia and hydrops fetalis in a twin pregnancy – case report and literature review","authors":"Joseph Carl M. Macalintal, Maria Rosario Castillo-Cheng, Dexter D. Cheng","doi":"10.5114/pcard.2021.108875","DOIUrl":"https://doi.org/10.5114/pcard.2021.108875","url":null,"abstract":"","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125390430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Congenital anomalies of development are an important issue in terms of both medical and social problems. In Poland in the years 2004-2012, an increase of detection of congenital heart defects in the form of HLHS (in 2004 - 22 fetuses, in 2006 - 38 fetuses, in 2008 - 66 fetuses, in 2010 - 69, in 2012 - 79 fetuses was observed). In 2012, the Nationwide Registry of Fetal Cardiac Pathology in the form of heart defect HLHS occupied first place among the most frequently detected heart defects, 10.2% of all registered patients with heart defects.
{"title":"HLHS on the basis of a Nationwide Registry of Fetal Cardiac Pathology www.orpkp.pl","authors":"P. Kordjalik, M. Respondek-Liberska","doi":"10.12847/09133","DOIUrl":"https://doi.org/10.12847/09133","url":null,"abstract":"Abstract Congenital anomalies of development are an important issue in terms of both medical and social problems. In Poland in the years 2004-2012, an increase of detection of congenital heart defects in the form of HLHS (in 2004 - 22 fetuses, in 2006 - 38 fetuses, in 2008 - 66 fetuses, in 2010 - 69, in 2012 - 79 fetuses was observed). In 2012, the Nationwide Registry of Fetal Cardiac Pathology in the form of heart defect HLHS occupied first place among the most frequently detected heart defects, 10.2% of all registered patients with heart defects.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125744316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Michalak, M. Witczak, Elżbieta Kukawczyńska, Marek Niwald, M. Respondek-Liberska
Abstract Our clinical report describes a rare finding of a prenatally-detected congenital atrioventricular (AVB) block without associated maternal antibodies, which progressed from 1st/2nd degree AVB to complete heart block during second half of pregnancy. Obstetrical ultrasound at 12th week did not reveal any abnormalities and prenatal echocardiography (due to VSD in afamily member) at the 18th week of gestation detected 1st degree block, then bigeminy and bradycardia. Transplacental treatment with B-2-mimetics was introduced. The delivery was organized in a tertiary center and a pacemaker for the newborn baby was secured and implanted in 15th day of life. Currently the boy`s condition is good and stable. Before therapy with B-2-mimetics the mother underwent echocardiography and ECG which revealed clinically silent structural and conduction heart abnormalities. Literature findings suggest that parents of children with non-immune congenital or childhood AVB are more likely to carry clinically silent conduction abnormalities than general population. Given the corresponding findings in the mother and her son, they should be good candidates for genetic testing.
{"title":"Case report and literature review. Prenatally Detected Non-Immune Atrioventricular Block and Maternal Arrhythmia - Case Presentation and Literature Review","authors":"A. Michalak, M. Witczak, Elżbieta Kukawczyńska, Marek Niwald, M. Respondek-Liberska","doi":"10.1515/pcard-2016-0013","DOIUrl":"https://doi.org/10.1515/pcard-2016-0013","url":null,"abstract":"Abstract Our clinical report describes a rare finding of a prenatally-detected congenital atrioventricular (AVB) block without associated maternal antibodies, which progressed from 1st/2nd degree AVB to complete heart block during second half of pregnancy. Obstetrical ultrasound at 12th week did not reveal any abnormalities and prenatal echocardiography (due to VSD in afamily member) at the 18th week of gestation detected 1st degree block, then bigeminy and bradycardia. Transplacental treatment with B-2-mimetics was introduced. The delivery was organized in a tertiary center and a pacemaker for the newborn baby was secured and implanted in 15th day of life. Currently the boy`s condition is good and stable. Before therapy with B-2-mimetics the mother underwent echocardiography and ECG which revealed clinically silent structural and conduction heart abnormalities. Literature findings suggest that parents of children with non-immune congenital or childhood AVB are more likely to carry clinically silent conduction abnormalities than general population. Given the corresponding findings in the mother and her son, they should be good candidates for genetic testing.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"46 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129561433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
K. Mȩdrek, K. Piotrowski, Wojciech Halec, S. Zajączek
Twin gestations are higher risk pregnancies for fetal mortality especially when associated with genetic disorder and congenital heart defect which significantly increases the complication risk in the co-twin including fetal loss, premature delivery, and organ damage. In this report, we present a case of dichorionic twins in 41 years old woman. A trisomy 21 was diagnosed in one twin associated with uncharacteristic congenital heart defect resulting in single twin demise in mid-gestation . The effect of regular care and proper management was delivery of healthy surviving twin.
{"title":"Atypical Heart Defect in One of the Twins with Trisomy 21","authors":"K. Mȩdrek, K. Piotrowski, Wojciech Halec, S. Zajączek","doi":"10.12847/03135","DOIUrl":"https://doi.org/10.12847/03135","url":null,"abstract":"Twin gestations are higher risk pregnancies for fetal mortality especially when associated with genetic disorder and congenital heart defect which significantly increases the complication risk in the co-twin including fetal loss, premature delivery, and organ damage. In this report, we present a case of dichorionic twins in 41 years old woman. A trisomy 21 was diagnosed in one twin associated with uncharacteristic congenital heart defect resulting in single twin demise in mid-gestation . The effect of regular care and proper management was delivery of healthy surviving twin.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"32 6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131289973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.5114/PCARD.2019.92706
Karolina Rydzewska, J. Murlewska, M. Krekora, I. Maroszyńska, M. Moll, M. Respondek-Liberska
Introduction: Ebstein’s anomaly is a rare congenital heart defect (< 1% of all cases of congenital heart disease). Its distinctive feature is the displacement of the septal and posterior leaflets of the tricuspid valve towards the apex. The right atrium is enlarged, and the right ventricle is divided into two parts. The leaflets are often dysplastic. This leads to tricuspid regurgitation. Pulmonary stenosis or atresia is the most common associated defect. All these changes can lead, during the fetal life, to cardiomegaly, lung hypoplasia, heart failure of the fetus, or even intrauterine demise. Case presentation: A 39-year-old G3P3 at 23 weeks of gestation had a detection of heart disease. She was admitted to our Institute for further management. The prenatal echocardiography exam showed the fetus with Ebstein’s anomaly, pulmonary valve atresia, and cardiomegaly. Intrauterine digoxin and steroid treatment was started. Subsequent fetal echocardiographic monitoring was performed late in the third trimester. At 39 weeks of gestation the oxygen test was positive and oxygen therapy was ordered. Elective caesarean section was performed at 40 weeks of gestation, and a male newborn weighting 2860 g was delivered. On the 11th day of life, he underwent cardiac surgery in the same hospital and was discharged four weeks later in a good general condition. Conclusion: Despite the fact that there are no recommendations for intrauterine therapy for fetal Ebstein’s disease, this case shows the possibility of finding an alternative method of fetal treatment, which can be a combination of digoxin, steroids, and maternal oxygen therapy and early neonatal, handmade, tricuspid valve replacement.
{"title":"The attempt of pregnancy modification in a case of fetal Ebstein’s anomaly","authors":"Karolina Rydzewska, J. Murlewska, M. Krekora, I. Maroszyńska, M. Moll, M. Respondek-Liberska","doi":"10.5114/PCARD.2019.92706","DOIUrl":"https://doi.org/10.5114/PCARD.2019.92706","url":null,"abstract":"Introduction: Ebstein’s anomaly is a rare congenital heart defect (< 1% of all cases of congenital heart disease). Its distinctive feature is the displacement of the septal and posterior leaflets of the tricuspid valve towards the apex. The right atrium is enlarged, and the right ventricle is divided into two parts. The leaflets are often dysplastic. This leads to tricuspid regurgitation. Pulmonary stenosis or atresia is the most common associated defect. All these changes can lead, during the fetal life, to cardiomegaly, lung hypoplasia, heart failure of the fetus, or even intrauterine demise. Case presentation: A 39-year-old G3P3 at 23 weeks of gestation had a detection of heart disease. She was admitted to our Institute for further management. The prenatal echocardiography exam showed the fetus with Ebstein’s anomaly, pulmonary valve atresia, and cardiomegaly. Intrauterine digoxin and steroid treatment was started. Subsequent fetal echocardiographic monitoring was performed late in the third trimester. At 39 weeks of gestation the oxygen test was positive and oxygen therapy was ordered. Elective caesarean section was performed at 40 weeks of gestation, and a male newborn weighting 2860 g was delivered. On the 11th day of life, he underwent cardiac surgery in the same hospital and was discharged four weeks later in a good general condition. Conclusion: Despite the fact that there are no recommendations for intrauterine therapy for fetal Ebstein’s disease, this case shows the possibility of finding an alternative method of fetal treatment, which can be a combination of digoxin, steroids, and maternal oxygen therapy and early neonatal, handmade, tricuspid valve replacement.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"2020 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"120974292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.5114/pcard.2022.127365
Zoe McLoughlin, M. Kathol, Amanda McIntosh
Cardiac rhabdomyomas, the most common type of fetal cardiac tumor, can grow prenatally, in rare instances leading to heart failure and fetal demise. In severe cases, there have been reports of successful treatment with transplacental mechanistic target of rapamycin inhibitor (mTORi) therapy, specifically sirolimus. However, given the small number of published cases, the dosing regimen and safety profile of sirolimus in pregnancy for this indication remain undefined. This case details successful treatment with sirolimus therapy in a fetus with a massive septal cardiac rhabdomyoma leading to left ventricular cavity obliteration and left ventricular outflow tract (LVOT) obstruction with resulting fetal hydrops. A mother with a previous child with tuberous sclerosis complex presented for evaluation of rapidly enlarging fetal cardiac masses in the second trimester. Due to fetal hemodynamic compromise by 30 weeks gestational age (GA), the mother was initiated on oral sirolimus therapy. Two weeks after initiation of therapy, mass size and fetal hydrops had significantly improved. Oligohydramnios developed at 36 weeks GA, prompting delivery of a live-born infant appropriate for GA. Oligohydramnios has never been re-ported with maternal sirolimus use. With this case, we confirm previously described dosing regimens for treatment and describe the safety profile of sirolimus in pregnancy based on current national registry data. We also highlight the need for maternal and fetal monitoring after treatment initiation.
{"title":"Massive fetal cardiac rhabdomyoma treated with transplacental sirolimus","authors":"Zoe McLoughlin, M. Kathol, Amanda McIntosh","doi":"10.5114/pcard.2022.127365","DOIUrl":"https://doi.org/10.5114/pcard.2022.127365","url":null,"abstract":"Cardiac rhabdomyomas, the most common type of fetal cardiac tumor, can grow prenatally, in rare instances leading to heart failure and fetal demise. In severe cases, there have been reports of successful treatment with transplacental mechanistic target of rapamycin inhibitor (mTORi) therapy, specifically sirolimus. However, given the small number of published cases, the dosing regimen and safety profile of sirolimus in pregnancy for this indication remain undefined. This case details successful treatment with sirolimus therapy in a fetus with a massive septal cardiac rhabdomyoma leading to left ventricular cavity obliteration and left ventricular outflow tract (LVOT) obstruction with resulting fetal hydrops. A mother with a previous child with tuberous sclerosis complex presented for evaluation of rapidly enlarging fetal cardiac masses in the second trimester. Due to fetal hemodynamic compromise by 30 weeks gestational age (GA), the mother was initiated on oral sirolimus therapy. Two weeks after initiation of therapy, mass size and fetal hydrops had significantly improved. Oligohydramnios developed at 36 weeks GA, prompting delivery of a live-born infant appropriate for GA. Oligohydramnios has never been re-ported with maternal sirolimus use. With this case, we confirm previously described dosing regimens for treatment and describe the safety profile of sirolimus in pregnancy based on current national registry data. We also highlight the need for maternal and fetal monitoring after treatment initiation.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"47 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125286017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The study case is a foetus with a diagnosed heart tumor in week 23 of pregnancy. The tumor was found in the right ventricle with a concomitant local change of echogenicity of the right atrial wall; it did not cause any haemodynamic disturbances, impair systolic function or disturb inflow into the right ventricle. Foetal check-up in week 30 has shown a complete regression of the lesion in the right ventricular lumen. Because of no foetal movements felt, in week 36 the pregnant patient reported to the hospital where foetal heart asystole was diagnosed and the pregnancy was terminated by labour induction. Foetal autopsy has shown no nodose lesions in the heart or any other lesions which could have been the cause of an abrupt foetal death in utero.
{"title":"Prenatal diagnosis of the right ventricle tumor - case report","authors":"J. Krawczyk, Justyna Zańko","doi":"10.12847/09136","DOIUrl":"https://doi.org/10.12847/09136","url":null,"abstract":"The study case is a foetus with a diagnosed heart tumor in week 23 of pregnancy. The tumor was found in the right ventricle with a concomitant local change of echogenicity of the right atrial wall; it did not cause any haemodynamic disturbances, impair systolic function or disturb inflow into the right ventricle. Foetal check-up in week 30 has shown a complete regression of the lesion in the right ventricular lumen. Because of no foetal movements felt, in week 36 the pregnant patient reported to the hospital where foetal heart asystole was diagnosed and the pregnancy was terminated by labour induction. Foetal autopsy has shown no nodose lesions in the heart or any other lesions which could have been the cause of an abrupt foetal death in utero.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"40 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134089222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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