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genetic causes of congenital heart disease

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https://www.readbyqxmd.com/read/29663641/congenital-heart-diseases-and-cardiovascular-abnormalities-in-22q11-2-deletion-syndrome-from-well-established-knowledge-to-new-frontiers
#1
REVIEW
Marta Unolt, Paolo Versacci, Silvia Anaclerio, Caterina Lambiase, Giulio Calcagni, Matteo Trezzi, Adriano Carotti, Terrence Blaine Crowley, Elaine H Zackai, Elizabeth Goldmuntz, James William Gaynor, Maria Cristina Digilio, Donna M McDonald-McGinn, Bruno Marino
Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of clinical diagnosis of 22q11.2 deletion syndrome (22q11.2DS) and still represent the main cause of mortality in the affected children. In the past 30 years, much progress has been made in describing the anatomical patterns of CHD, in improving their diagnosis, medical treatment, and surgical procedures for these conditions, as well as in understanding the underlying genetic and developmental mechanisms. However, further studies are still needed to better determine the true prevalence of CHDs in 22q11...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29569399/identification-of-clinically-relevant-phenotypes-in-patients-with-ebstein-anomaly
#2
Rodrigo Cabrera, Marta Catalina Miranda-Fernández, Victor Manuel Huertas-Quiñones, Marisol Carreño, Ivonne Pineda, Carlos M Restrepo, Claudia Tamar Silva, Rossi Quero, Juan David Cano, Diana Carolina Manrique, Camila Camacho, Sebastián Tabares, Alberto García, Néstor Sandoval, Karen Julieth Moreno Medina, Rodolfo José Dennis Verano
BACKGROUND: Ebstein anomaly (EA) is a heterogeneous congenital heart defect (CHD), frequently accompanied by diverse cardiac and extracardiac comorbidities, resulting in a wide range of clinical outcomes. HYPOTHESIS: Phenotypic characterization of EA patients has the potential to identify variables that influence prognosis and subgroups with distinct contributing factors. METHODS: A comprehensive cross-sectional phenotypic characterization of 147 EA patients from one of the main referral institutions for CHD in Colombia was carried out...
March 22, 2018: Clinical Cardiology
https://www.readbyqxmd.com/read/29555671/a-screening-approach-to-identify-clinically-actionable-variants-causing-congenital-heart-disease-in-exome-data
#3
Justin O Szot, Hartmut Cuny, Gillian M Blue, David T Humphreys, Eddie Ip, Katrina Harrison, Gary F Sholler, Eleni Giannoulatou, Paul Leo, Emma L Duncan, Duncan B Sparrow, Joshua W K Ho, Robert M Graham, Nicholas Pachter, Gavin Chapman, David S Winlaw, Sally L Dunwoodie
BACKGROUND: Congenital heart disease (CHD)-structural abnormalities of the heart that arise during embryonic development-is the most common inborn malformation, affecting ≤1% of the population. However, currently, only a minority of cases can be explained by genetic abnormalities. The goal of this study was to identify disease-causal genetic variants in 30 families affected by CHD. METHODS: Whole-exome sequencing was performed with the DNA of multiple family members...
March 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29543228/congenital-heart-disease-and-aortic-arch-variants-associated-with-mutation-in-phox2b
#4
Rachel C Lombardo, Aleksey Porollo, James F Cnota, Robert J Hopkin
PurposeCongenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS.MethodsA retrospective review of patients with CCHS in conjunction with functional analysis of PHOX2B mutations associated with CHD was performed...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29538527/genetic-syndromes-associated-with-congenital-cardiac-defects-and-ophthalmologic-changes-systematization-for-diagnosis-in-the-clinical-practice
#5
Priscila H A Oliveira, Beatriz S Souza, Eimi N Pacheco, Michele S Menegazzo, Ivan S Corrêa, Paulo R G Zen, Rafael F M Rosa, Claudia C Cesa, Lucia C Pellanda, Manuel A P Vilela
BACKGROUND: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. OBJECTIVE: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes...
January 2018: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/29532042/physiology-of-cardiac-development-from-genetics-to-signaling-to-therapeutic-strategies
#6
Cheng Sun, Maria I Kontaridis
The heart is one of the first organs to form and function during embryonic development. It is comprised of multiple cell lineages, each integral for proper cardiac development, and include cardiomyocytes, endothelial cells, epicardial cells and neural crest cells. The molecular mechanisms regulating cardiac development and morphogenesis are dependent on signaling crosstalk between multiple lineages through paracrine interactions, cell-ECM interactions, and cell-cell interactions, which together, help facilitate survival, growth, proliferation, differentiation and migration of cardiac tissue...
February 2018: Current Opinion in Physiology
https://www.readbyqxmd.com/read/29493583/anticipating-uncertainty-and-irrevocable-decisions-provider-perspectives-on-implementing-whole-genome-sequencing-in-critically-ill-children-with-heart-disease
#7
Danton S Char, Sandra Soo-Jin Lee, David Magnus, Mildred Cho
PurposeTo investigate the potential impacts of whole-genome sequencing (WGS) in the pediatric critical-care context, we examined how clinicians caring for critically ill children with congenital heart disease (CHD) anticipate and perceive the impact of WGS on their decision-making process and treatment recommendations.MethodsWe conducted semistructured in-person and telephone interviews of clinicians involved in the care of critically ill children with CHD at a high-volume pediatric heart center. We qualitatively analyzed the transcribed interviews...
March 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29483987/neurofibromatosis-type-1-with-massive-ventricular-polyposis-first-report-in-the-medical-literature
#8
Georgi Tchernev, Anastasiya Atanasova Chokoeva, Uwe Wollina, Torello Lotti, Georgi Konstantinov Maximov, Ilia Lozev
BACKGROUND: Neurofibromatosis type 1 ( NF1 ) is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours. NF1 is caused by mutations in the NF1 gene, situated in chromosome 17q11.2, with an autosomal dominant pattern of inheritance and clinical manifestation of neurofibromas, malignant peripheral nerve sheath tumour, optic and non-optic nerve gliomas, congenital heart disease, cardiovascular and cerebrovascular disease and orthopaedic disorders...
January 25, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29461882/genetic-analyses-identified-a-sall4-gene-mutation-associated-with-holt-oram-syndrome
#9
Bojian Li, Sun Chen, Kun Sun, Rang Xu, Yurong Wu
Holt-Oram syndrome (HOS) is an autosomal dominant disorder, which is characterized by deformities of upper limbs and congenital heart defects. Alterations of TBX5 gene have been identified to be the leading cause of HOS, while some cases could not be explained by TBX5 mutations. In our study, we preliminarily diagnosed a newborn baby, who had Tetralogy of Fallot, thumb agenesis, facial dysplasia, and right ear canal malformation, as HOS. Chromosome microarray analyses showed no pathological deletions or replications of chromosome segments; whole exome sequencing screened out six candidate genes that were involved in cardiac diseases or syndromes among which SALL4 has been reported as HOS related gene...
February 20, 2018: DNA and Cell Biology
https://www.readbyqxmd.com/read/29460462/cri-du-chat-syndrome-characteristics-of-73-brazilian-patients
#10
R S Honjo, C B Mello, L S E Pimenta, E C Nuñes-Vaca, L M Benedetto, R B F Khoury, D M Befi-Lopes, C A Kim
BACKGROUND: Cri du Chat syndrome (CdCS) is a genetic syndrome caused by deletions in the short arm of chromosome 5. Although the main clinical features of CdCS are well known, the neurocognitive and behavioural characteristics of the phenotype are rarely described in detail in the literature. In this study, we analysed the main phenotypic features of CdCS from a parental perspective. METHOD: A questionnaire was sent to 700 Brazilian families that were registered in the Brazilian Association of CdCS...
February 20, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29456483/two-novel-pathogenic-mid1-variants-and-genotype-phenotype-correlation-reanalysis-in-x-linked-opitz-g-bbb-syndrome
#11
Nuno Maia, Maria J Nabais Sá, Nataliya Tkachenko, Gabriela Soares, Isabel Marques, Bárbara Rodrigues, Ana M Fortuna, Rosário Santos, Arjan P M de Brouwer, Paula Jorge
X-linked Opitz G/BBB syndrome (XLOS) is a multisystemic congenital condition, caused by mutations in the midline-1 gene ( MID1 ), characterized by a large inter- and intrafamilial phenotypic variability and often associated with intellectual disability (ID). We report clinical, genetic, and molecular findings in 4 patients with typical XLOS dysmorphic features belonging to 2 unrelated families. Two novel pathogenic loss-of-function MID1 variants, a maternally inherited c.1656del and a de novo c.1215_1228dup, were identified...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29452463/autosomal-dominant-mannose-binding-lectin-deficiency-is-associated-with-worse-neurodevelopmental-outcomes-after-cardiac-surgery-in-infants
#12
Daniel Seung Kim, Yatong K Li, Jerry H Kim, Curtis S Bergquist, Marsha Gerdes, Judy C Bernbaum, Nancy Burnham, Donna M McDonald-McGinn, Elaine H Zackai, Susan C Nicolson, Thomas L Spray, Deborah A Nickerson, Hakon Hakonarson, Gail P Jarvik, J William Gaynor
OBJECTIVES: The MBL2 gene is the major genetic determinant of mannose-binding lectin (MBL)-an acute phase reactant. Low MBL levels have been associated with adverse outcomes in preterm infants. The MBL2Gly54Asp missense variant causes autosomal dominant MBL deficiency. We tested the hypothesis that MBL2Gly54Asp is associated with worse neurodevelopmental outcomes after cardiac surgery in neonates. METHODS: This is an analysis of a previously described cohort of patients with nonsyndromic congenital heart disease who underwent cardiac surgery with cardiopulmonary bypass before age 6 months (n = 295)...
March 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29449662/assessment-of-interaction-between-maternal-polycyclic-aromatic-hydrocarbons-exposure-and-genetic-polymorphisms-on-the-risk-of-congenital-heart-diseases
#13
Nana Li, Yi Mu, Zhen Liu, Ying Deng, Yixiong Guo, Xuejuan Zhang, Xiaohong Li, Ping Yu, Yanping Wang, Jun Zhu
The major causes of congenital heart diseases (CHDs) are the interactions of genetic and environmental factors. We conducted a case-control study in 357 mothers of CHDs fetuses and 270 control mothers to investigate the association of maternal PAHs exposure, AHR, CYP1A1, CYP1A2, CYP1B1 and CYP2E polymorphisms, the interaction between PAHs exposure and genetic variants with the risk of CHDs. The higher level PAHs exposure was associated with the risk of CHDs (aOR = 2.029, 95% CI: 1.266, 3.251) or subtypes. The haplotypes of AHR or CYP1A2 were associated with the risk of CHDs: AHR: C-G-A-C: aOR = 0...
February 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29381953/case-report-an-unusual-case-of-brugada-syndrome-combined-with-a-ventricular-septal-defect-a-case-report
#14
Xing Liu, Jianmei Zheng, Zhongcai Fan, Li Rao
RATIONALE: Brugada syndrome (BrS) is a cardiac ion channel disease that is caused by an autosomal dominant genetic abnormality. A ventricular septal defect is a common congenital heart disease, in which genetic defects play a significant role. PATIENT CONCERNS: We report an extremely rare case of a 42-year-old male with congenital heart disease, who suffered recurrent syncope and gastrointestinal bleeding. His electrocardiogram showed an unusual right bundle branch block-like pattern and ST-segment elevation in leads V1-V3...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29363855/nrp1-haploinsufficiency-predisposes-to-the-development-of-tetralogy-of-fallot
#15
Ivan Duran, Jessica Tenney, Carmen M Warren, Anna Sarukhanov, Fabiana Csukasi, Mark Skalansky, Maria L Iruela-Arispe, Deborah Krakow
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect. It involves anatomical abnormalities that change the normal flow of blood through the heart resulting in low oxygenation. Although not all of the underlying causes of TOF are completely understood, the disease has been associated with varying genetic etiologies including chromosomal abnormalities and Mendelian disorders, but can also occur as an isolated defect. In this report, we describe a familial case of TOF associated with a 1...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29343412/implementing-genome-driven-personalized-cardiology-in-clinical-practice
#16
REVIEW
Ares Pasipoularides
Genomics designates the coordinated investigation of a large number of genes in the context of a biological process or disease. It may be long before we attain comprehensive understanding of the genomics of common complex cardiovascular diseases (CVDs) such as inherited cardiomyopathies, valvular diseases, primary arrhythmogenic conditions, congenital heart syndromes, hypercholesterolemia and atherosclerotic heart disease, hypertensive syndromes, and heart failure with preserved/reduced ejection fraction. Nonetheless, as genomics is evolving rapidly, it is constructive to survey now pertinent concepts and breakthroughs...
January 16, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29302319/the-burden-of-respiratory-syncytial-virus-rsv-associated-acute-lower-respiratory-infections-in-children-with-down-syndrome-a-systematic-review-and-meta-analysis
#17
REVIEW
Markus Chan, John J Park, Ting Shi, Federico Martinón-Torres, Louis Bont, Harish Nair
Background: Acute lower respiratory tract infections (ALRIs) caused by respiratory syncytial virus (RSV) are a leading cause of hospitalization in infants. Numerous risk factors have been identified in the aetiology of severe RSV-associated ALRI necessitating hospitalisation, including prematurity and congenital heart disease. Down syndrome (DS), a common genetic disorder associated with congenital and dysmorphic features, has recently been identified as an independent risk factor for RSV-associated ALRI requiring hospitalisation; however, the disease burden of RSV-associated ALRI in this population has not yet been established...
December 2017: Journal of Global Health
https://www.readbyqxmd.com/read/29298094/a-rare-rs139365823-polymorphism-in-pre-mir-138-is-associated-with-risk-of-congenital-heart-disease-in-a-chinese-population
#18
Xiaobo Gao, Liping Yang, Haiyan Luo, Fengwei Tan, Xu Ma, Cailing Lu
miR-138 modulates cardiac morphogenesis in zebrafish. We explored whether a genetic polymorphism in miR-138 might contribute to the occurrence of sporadic congenital heart disease (CHD) and the potential mechanism. We performed a case-control study consisting of 857 CHD cases and 938 non-CHD controls by genotyping miR-138 in a Chinese population. Two SNPs, including rare rs139365823 located in the pre-miR-138 sequence and rs76987351 located in the pri-miR-138 sequence, were identified by sequencing miR-138...
February 2018: DNA and Cell Biology
https://www.readbyqxmd.com/read/29291004/whole-exome-sequencing-identifies-novel-mutation-in-eight-chinese-children-with-isolated-tetralogy-of-fallot
#19
Lin Liu, Hong-Dan Wang, Cun-Ying Cui, Yun-Yun Qin, Tai-Bing Fan, Bang-Tian Peng, Lian-Zhong Zhang, Cheng-Zeng Wang
Background: Tetralogy of Fallot is the most common cyanotic congenital heart disease. However, its pathogenesis remains to be clarified. The purpose of this study was to identify the genetic variants in Tetralogy of Fallot by whole exome sequencing. Methods: Whole exome sequencing was performed among eight small families with Tetralogy of Fallot. Differential single nucleotide polymorphisms and small InDels were found by alignment within families and between families and then were verified by Sanger sequencing...
December 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/29258620/refractory-ventricular-fibrillations-after-surgical-repair-of-atrial-septal-defects-in-a-patient-with-cacna1c-gene-mutation-case-report
#20
Ai Kojima, Fumiaki Shikata, Toru Okamura, Takashi Higaki, Seiko Ohno, Minoru Horie, Shunji Uchita, Yujiro Kawanishi, Kenji Namiguchi, Takumi Yasugi, Hironori Izutani
BACKGROUND: Congenital long QT syndrome (LQTS) can cause ventricular arrhythmic events with syncope and sudden death resulting from malignant torsades de pointes (TdP) followed by ventricular fibrillations (VFs). However, the syndrome is often overlooked prior to the development of arrhythmic events in patients with congenital heart diseases demonstrating right bundle branch block on electrocardiogram (ECG). We present a case of an adult patient with congenital heart disease who developed VFs postoperatively, potentially due to his mutation in a LQTS related gene, which was not identified on preoperative assessment due to incomplete evaluation of his family history...
December 19, 2017: Journal of Cardiothoracic Surgery
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