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Felix Berger - One of the best experts on this subject based on the ideXlab platform.
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mutations in the sarcomere gene myh7 in ebstein anomaly
Circulation-cardiovascular Genetics, 2011Co-Authors: Alex V Postma, Klaartje Van Engelen, Judith B A Van De Meerakker, Thahira Rahman, Susanne Probst, Marieke J H Baars, Ulrike Bauer, T Pickardt, Silke Sperling, Felix BergerAbstract:Background—Ebstein anomaly is a rare Congenital Heart Malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An associatio...
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Mutations in the Sarcomere Protein Gene MYH7 in Ebstein's Anomaly
Circulation. Cardiovascular genetics, 2010Co-Authors: Alex V Postma, Klaartje Van Engelen, Judith B A Van De Meerakker, Thahira Rahman, Susanne Probst, Marieke J H Baars, Ulrike Bauer, T Pickardt, Silke Sperling, Felix BergerAbstract:Background —Ebstein9s anomaly is a rare Congenital Heart Malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein9s anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding β-myosin heavy chain has been reported; here we have screened for MYH7 mutations in a cohort of probands with Ebstein9s anomaly in a large population-based study. Methods and Results —Mutational analysis in a cohort of 141 unrelated probands with Ebstein9s anomaly was performed by next generation sequencing and direct DNA sequencing of MYH7 . Heterozygous mutations were identified in 8 of 141 samples (6%). Seven distinct mutations were found, 5 were novel and 2 were known to cause hypertrophic cardiomyopathy (HCM). All mutations except for one 3-bp deletion were missense mutations, one was a de novo change. Mutation-positive probands and family members showed various Congenital Heart Malformations as well as LVNC. Among 8 mutation-positive probands, 6 had LVNC, whereas among 133 mutation-negative probands, none had LVNC. The frequency of MYH7 mutations was significantly different between probands with and without LVNC accompanying Ebstein9s anomaly ( p MYH7 mutation in the pedigrees of three of the probands, one of which also included another individual with Ebstein9s anomaly. Conclusions —Ebstein9s anomaly is a Congenital Heart Malformation that is associated with mutations in MYH7 . MYH7 mutations are predominantly found in Ebstein9s anomaly associated with LVNC and may warrant genetic testing and family evaluation in this subset of patients.
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Cast of Complex Congenital Heart Malformation in a Living Patient
Circulation, 2005Co-Authors: S. Mottl-link, Felix Berger, Thomas Boettger, Julia J. Krueger, Urte Rietdorf, Bernhard Schnackenburg, Peter Ewert, Eike Nagel, Hans-peter Meinzer, Amy L. JuraszekAbstract:Magnetic resonance imaging data of a 20-year-old male patient was used to produce, to the best of our knowledge, the first cast model of a beating Heart. Imaging was performed at the German Heart Institute Berlin, Department of Congenital Heart Disease and Pediatric Cardiology; data were transferred to the Department of Medical and Biological Informatics (German Cancer Research Center, Heidelberg). The patient had the diagnoses of dextrocardia, atrial and visceral situs inversus, L-looped ventricles, and L-malposition of the great arteries, with a large perimembranous ventricular septal defect and pulmonary atresia. A 3D whole-Heart, navigator-corrected MRI data set …
Alex V Postma - One of the best experts on this subject based on the ideXlab platform.
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genome wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of fallot
Human Molecular Genetics, 2013Co-Authors: Heather J Cordell, Alex V Postma, Gillian M. Blue, Ana Topf, Chrysovalanto Mamasoula, Jamie Bentham, Diana Zelenika, Simon Heath, Catherine Cosgrove, Javier Granados RiveronAbstract:We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A region on chromosome 12q24 was associated (P = 1.4 × 10−7) and replicated convincingly (P = 3.9 × 10−5) in 798 cases and 2931 controls [per allele odds ratio (OR) = 1.27 in replication cohort, P = 7.7 × 10−11 in combined populations]. Single nucleotide polymorphisms in the glypican 5 gene on chromosome 13q32 were also associated (P = 1.7 × 10−7) and replicated convincingly (P = 1.2 × 10−5) in 789 cases and 2927 controls (per allele OR = 1.31 in replication cohort, P = 3.03 × 10−11 in combined populations). Four additional regions on chromosomes 10, 15 and 16 showed suggestive association accompanied by nominal replication. This study, the first genome-wide association study of a Congenital Heart Malformation phenotype, provides evidence that common genetic variation influences the risk of TOF.
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Ebstein’s anomaly may be caused by mutations in the sarcomere protein gene MYH7
Netherlands Heart Journal, 2013Co-Authors: K. Engelen, Alex V Postma, Thahira Rahman, Marieke J H Baars, J. B. A. Meerakker, J. W. Roos-hesselink, A. T. J. M. Helderman-van Den Enden, H. W. Vliegen, J-w Sels, Ulrike BauerAbstract: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.
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ebstein s anomaly may be caused by mutations in the sarcomere protein gene myh7
Netherlands Heart Journal, 2013Co-Authors: Klaartje Van Engelen, Alex V Postma, Judith B A Van De Meerakker, Thahira Rahman, Marieke J H Baars, H. W. Vliegen, J-w Sels, J W Rooshesselink, A Heldermanvan Den T J M Enden, Ulrike BauerAbstract: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.
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mutations in the sarcomere gene myh7 in ebstein anomaly
Circulation-cardiovascular Genetics, 2011Co-Authors: Alex V Postma, Klaartje Van Engelen, Judith B A Van De Meerakker, Thahira Rahman, Susanne Probst, Marieke J H Baars, Ulrike Bauer, T Pickardt, Silke Sperling, Felix BergerAbstract:Background—Ebstein anomaly is a rare Congenital Heart Malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An associatio...
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Mutations in the Sarcomere Protein Gene MYH7 in Ebstein's Anomaly
Circulation. Cardiovascular genetics, 2010Co-Authors: Alex V Postma, Klaartje Van Engelen, Judith B A Van De Meerakker, Thahira Rahman, Susanne Probst, Marieke J H Baars, Ulrike Bauer, T Pickardt, Silke Sperling, Felix BergerAbstract:Background —Ebstein9s anomaly is a rare Congenital Heart Malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein9s anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding β-myosin heavy chain has been reported; here we have screened for MYH7 mutations in a cohort of probands with Ebstein9s anomaly in a large population-based study. Methods and Results —Mutational analysis in a cohort of 141 unrelated probands with Ebstein9s anomaly was performed by next generation sequencing and direct DNA sequencing of MYH7 . Heterozygous mutations were identified in 8 of 141 samples (6%). Seven distinct mutations were found, 5 were novel and 2 were known to cause hypertrophic cardiomyopathy (HCM). All mutations except for one 3-bp deletion were missense mutations, one was a de novo change. Mutation-positive probands and family members showed various Congenital Heart Malformations as well as LVNC. Among 8 mutation-positive probands, 6 had LVNC, whereas among 133 mutation-negative probands, none had LVNC. The frequency of MYH7 mutations was significantly different between probands with and without LVNC accompanying Ebstein9s anomaly ( p MYH7 mutation in the pedigrees of three of the probands, one of which also included another individual with Ebstein9s anomaly. Conclusions —Ebstein9s anomaly is a Congenital Heart Malformation that is associated with mutations in MYH7 . MYH7 mutations are predominantly found in Ebstein9s anomaly associated with LVNC and may warrant genetic testing and family evaluation in this subset of patients.
Adnan Uysalel - One of the best experts on this subject based on the ideXlab platform.
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Surgical repair of non-obstructive supracardiac total anomalous pulmonary venous connection in an adult patient.
Turkish Journal of Thoracic and Cardiovascular Surgery, 2019Co-Authors: Zeynep Eyileten, Hande İştar, Fatih Gumus, Suat Fitoz, Adnan UysalelAbstract:: Total anomalous pulmonary venous connection is an uncommon Congenital Heart Malformation with abnormal drainage of all pulmonary veins into the systemic venous system. Despite its very low incidence, it is usually a pediatric cardiac emergency and rarely allows survival into adulthood without surgical correction in infancy. Herein, we report one of the oldest cases from Turkey who was successfully operated for non-obstructive, supracardiac total anomalous pulmonary venous connection.
Ulrike Bauer - One of the best experts on this subject based on the ideXlab platform.
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Ebstein’s anomaly may be caused by mutations in the sarcomere protein gene MYH7
Netherlands Heart Journal, 2013Co-Authors: K. Engelen, Alex V Postma, Thahira Rahman, Marieke J H Baars, J. B. A. Meerakker, J. W. Roos-hesselink, A. T. J. M. Helderman-van Den Enden, H. W. Vliegen, J-w Sels, Ulrike BauerAbstract: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.
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ebstein s anomaly may be caused by mutations in the sarcomere protein gene myh7
Netherlands Heart Journal, 2013Co-Authors: Klaartje Van Engelen, Alex V Postma, Judith B A Van De Meerakker, Thahira Rahman, Marieke J H Baars, H. W. Vliegen, J-w Sels, J W Rooshesselink, A Heldermanvan Den T J M Enden, Ulrike BauerAbstract: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.
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mutations in the sarcomere gene myh7 in ebstein anomaly
Circulation-cardiovascular Genetics, 2011Co-Authors: Alex V Postma, Klaartje Van Engelen, Judith B A Van De Meerakker, Thahira Rahman, Susanne Probst, Marieke J H Baars, Ulrike Bauer, T Pickardt, Silke Sperling, Felix BergerAbstract:Background—Ebstein anomaly is a rare Congenital Heart Malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An associatio...
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Mutations in the Sarcomere Protein Gene MYH7 in Ebstein's Anomaly
Circulation. Cardiovascular genetics, 2010Co-Authors: Alex V Postma, Klaartje Van Engelen, Judith B A Van De Meerakker, Thahira Rahman, Susanne Probst, Marieke J H Baars, Ulrike Bauer, T Pickardt, Silke Sperling, Felix BergerAbstract:Background —Ebstein9s anomaly is a rare Congenital Heart Malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein9s anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding β-myosin heavy chain has been reported; here we have screened for MYH7 mutations in a cohort of probands with Ebstein9s anomaly in a large population-based study. Methods and Results —Mutational analysis in a cohort of 141 unrelated probands with Ebstein9s anomaly was performed by next generation sequencing and direct DNA sequencing of MYH7 . Heterozygous mutations were identified in 8 of 141 samples (6%). Seven distinct mutations were found, 5 were novel and 2 were known to cause hypertrophic cardiomyopathy (HCM). All mutations except for one 3-bp deletion were missense mutations, one was a de novo change. Mutation-positive probands and family members showed various Congenital Heart Malformations as well as LVNC. Among 8 mutation-positive probands, 6 had LVNC, whereas among 133 mutation-negative probands, none had LVNC. The frequency of MYH7 mutations was significantly different between probands with and without LVNC accompanying Ebstein9s anomaly ( p MYH7 mutation in the pedigrees of three of the probands, one of which also included another individual with Ebstein9s anomaly. Conclusions —Ebstein9s anomaly is a Congenital Heart Malformation that is associated with mutations in MYH7 . MYH7 mutations are predominantly found in Ebstein9s anomaly associated with LVNC and may warrant genetic testing and family evaluation in this subset of patients.
Craig T. Basson - One of the best experts on this subject based on the ideXlab platform.
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Preimplantation genetic diagnosis of human Congenital Heart Malformation and Holt-Oram syndrome.
American journal of medical genetics. Part A, 2004Co-Authors: Deborah A. Mcdermott, Yan Song, Fred Gilbert, Isaac Kligman, Craig T. BassonAbstract:Holt-Oram syndrome (HOS) is a multiple Malformation syndrome associated with Congenital Heart Malformation (CHM) and caused by mutations in the TBX5 transcription factor. Effective prenatal genetic diagnosis of HOS is limited by factors that modify clinical manifestations and confound prediction of an individual's phenotype. Although preimplantation genetic diagnosis (PGD) has been applied to complex disorders with some cardiovascular manifestations, its utility in Mendelian CHM has not been previously demonstrated. We tested whether PGD and in vitro fertilization (IVF) technology, including oocyte donation, can identify fertilized eggs affected by HOS for potential embryo selection. Five donor oocytes were fertilized in vitro with sperm from a HOS patient heterozygous for a Glu69ter-TBX5 mutation and then underwent embryo biopsy and genotyping. One carried the Glu69ter-TBX5 mutation; all others had wildtype genotypes. Two wildtype blastocysts were transferred to the mother, and the resulting singleton pregnancy was successfully delivered. Mutational analysis of fetal amniocytes and postpartum umbilical cord blood confirmed PGD. Fetal ultrasonography as well as postpartum electrocardiography and echocardiography also validated accurate prediction of normal skeletal and cardiac phenotypes. We conclude that PGD is an effective reproductive strategy for HOS patients. As more genetic etiologies for CHM are identified, application of PGD as adjunctive therapy to IVF will be increasingly available to prevent transmission of such diseases from affected parents to their children. Clinical application of PGD must balance the benefits of avoiding disease transmission with the medical risks and financial burdens of IVF.
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Preimplantation genetic diagnosis of human Congenital Heart Malformation and Holt-Oram syndrome.
American Journal of Medical Genetics Part A, 2003Co-Authors: Deborah A. Mcdermott, Yan Song, Fred Gilbert, Isaac Kligman, Craig T. BassonAbstract:Holt–Oram syndrome (HOS) is a multiple Malformation syndrome associated with Congenital Heart Malformation (CHM) and caused by mutations in the TBX5 transcription factor. Effective prenatal genetic diagnosis of HOS is limited by factors that modify clinical manifestations and confound prediction of an individual's phenotype. Although preimplantation genetic diagnosis (PGD) has been applied to complex disorders with some cardiovascular manifestations, its utility in Mendelian CHM has not been previously demonstrated. We tested whether PGD and in vitro fertilization (IVF) technology, including oocyte donation, can identify fertilized eggs affected by HOS for potential embryo selection. Five donor oocytes were fertilized in vitro with sperm from a HOS patient heterozygous for a Glu69ter-TBX5 mutation and then underwent embryo biopsy and genotyping. One carried the Glu69ter-TBX5 mutation; all others had wildtype genotypes. Two wildtype blastocysts were transferred to the mother, and the resulting singleton pregnancy was successfully delivered. Mutational analysis of fetal amniocytes and postpartum umbilical cord blood confirmed PGD. Fetal ultrasonography as well as postpartum electrocardiography and echocardiography also validated accurate prediction of normal skeletal and cardiac phenotypes. We conclude that PGD is an effective reproductive strategy for HOS patients. As more genetic etiologies for CHM are identified, application of PGD as adjunctive therapy to IVF will be increasingly available to prevent transmission of such diseases from affected parents to their children. Clinical application of PGD must balance the benefits of avoiding disease transmission with the medical risks and financial burdens of IVF. © 2003 Wiley-Liss, Inc.
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Transcription factor cascades in Congenital Heart Malformation
Trends in molecular medicine, 2003Co-Authors: Cathy J. Hatcher, Nata Y Diman, Deborah A. Mcdermott, Craig T. BassonAbstract:Abstract New observations reveal that GATA - 4 mutations are one underlying cause of human cardiac septal defects. Recent data has shed light on a potential multiprotein complex formed by GATA-4, TBX5 and NKX2.5, which might act synergistically to transcriptionally regulate other cardiac specific genes. The addition of GATA - 4 to the list of genes involved in human Congenital Heart Malformation prompts consideration of how modern molecular genetic advances should be applied to clinical care.
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Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects.
Circulation, 1998Co-Authors: Benson Dw, Sharkey A, Diane Fatkin, Barbara Mcdonough, Strauss Aw, Jonathan G. Seidman, Craig T. Basson, Peter Lang, Christine E. SeidmanAbstract:Background—Secundum atrial septal defect (ASD) is a common Congenital Heart Malformation that occurs as an isolated anomaly in 10% of individuals with Congenital Heart disease. Although some embryological pathways have been elucidated, the molecular etiologies of ASD are not fully understood. Most cases of ASD are isolated, but some individuals with ASD have a family history of this defect or other Congenital Heart Malformations. Methods and Results—Clinical evaluation of three families identified individuals with ASD in multiple generations. ASD was transmitted as an autosomal dominant trait in each family. ASD was the most common anomaly, but other Heart defects occurred alone or in association with ASD in individuals from each kindred. Genome-wide linkage studies in one kindred localized a familial ASD disease gene to chromosome 5p (multipoint LOD score=3.6, θ=0.0). Assessment of 20 family members with the disease haplotype revealed that 9 had ASD, 8 were clinically unaffected, and 3 had other cardiac ...