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Congenital heart diseases and genetics

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https://www.readbyqxmd.com/read/28212480/-reintervention-with-percutaneous-balloon-angioplasty-in-patients-with-congenital-heart-disease-with-left-sided-obstructions
#1
Horacio Márquez-González, Diana López-Gallegos, Nataly Alejandra Pérez-Velázquez, Lucelli Yáñez-Gutiérrez
BACKGROUND: Left-sided cardiac obstructions represent 15% of congenital heart disease (CHD). The treatment in adults is surgical; however, balloon dilation by interventional catheterization can alleviate the symptoms in pediatric patients to allow them to reach the target height. The aim was to determine the survival and the factors associated with reintervention in patients with CHD with left-sided obstruction treated with balloon angioplasty. METHODS: A cohort study was conducted in patients aged 4 to 17 years with left-sided heart obstruction (valvular stenosis [VS], supravalvular aortic stenosis [SAS], coarctation of the aorta [CA]) successfully treated with balloon angioplasty...
2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28209227/advances-in-the-genetics-of-congenital-heart%C3%A2-disease-a-clinician-s-guide
#2
REVIEW
Gillian M Blue, Edwin P Kirk, Eleni Giannoulatou, Gary F Sholler, Sally L Dunwoodie, Richard P Harvey, David S Winlaw
Our understanding of the genetics of congenital heart disease (CHD) is rapidly expanding; however, many questions, particularly those relating to sporadic forms of disease, remain unanswered. Massively parallel sequencing technology has made significant contributions to the field, both from a diagnostic perspective for patients and, importantly, also from the perspective of disease mechanism. The importance of de novo variation in sporadic disease is a recent highlight, and the genetic link between heart and brain development has been established...
February 21, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28196030/physical-activities-and-lifestyle-factors-related-to-adolescent-idiopathic-scoliosis
#3
Kota Watanabe, Takehiro Michikawa, Ikuho Yonezawa, Masashi Takaso, Shohei Minami, Shigeru Soshi, Takashi Tsuji, Eijiro Okada, Katsumi Abe, Masamichi Takahashi, Keiko Asakura, Yuji Nishiwaki, Morio Matsumoto
BACKGROUND: In addition to genetic factors, environmental and lifestyle factors are thought to play an important role in the onset of adolescent idiopathic scoliosis (AIS). This cross-sectional study was conducted to explore lifestyle factors related to AIS. METHODS: This study included 2,759 Japanese female junior high school students who planned a secondary screening after an initial moiré topography screening indicated possible scoliosis. The students and their mothers, or guardians, were asked to fill out a questionnaire consisting of 38 questions about demographic factors, lifestyle-related factors, social factors, household environment, participation in sports, health status, and factors related to the mother's pregnancy and delivery...
February 15, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28195132/analysis-of-craniocardiac-malformations-in-xenopus-using-optical-coherence-tomography
#4
Engin Deniz, Stephan Jonas, Michael Hooper, John N Griffin, Michael A Choma, Mustafa K Khokha
Birth defects affect 3% of children in the United States. Among the birth defects, congenital heart disease and craniofacial malformations are major causes of mortality and morbidity. Unfortunately, the genetic mechanisms underlying craniocardiac malformations remain largely uncharacterized. To address this, human genomic studies are identifying sequence variations in patients, resulting in numerous candidate genes. However, the molecular mechanisms of pathogenesis for most candidate genes are unknown. Therefore, there is a need for functional analyses in rapid and efficient animal models of human disease...
February 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28166832/prevalence-genetic-identity-and-vertical-transmission-of-babesia-microti-in-three-naturally-infected-species-of-vole-microtus-spp-cricetidae
#5
Katarzyna Tołkacz, Małgorzata Bednarska, Mohammed Alsarraf, Dorota Dwużnik, Maciej Grzybek, Renata Welc-Falęciak, Jerzy M Behnke, Anna Bajer
BACKGROUND: Vertical transmission is one of the transmission routes for Babesia microti, the causative agent of the zoonotic disease, babesiosis. Congenital Babesia invasions have been recorded in laboratory mice, dogs and humans. The aim of our study was to determine if vertical transmission of B. microti occurs in naturally-infected reservoir hosts of the genus Microtus. METHODS: We sampled 124 common voles, Microtus arvalis; 76 root voles, M. oeconomus and 17 field voles, M...
February 6, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28155223/evaluation-of-prolonged-qt-interval-structural-heart-disease-mimicking-long-qt-syndrome
#6
Adaya Weissler-Snir, Michael H Gollob, Vijay Chauhan, Melanie Care, Danna A Spears
BACKGROUND: In about 20-25% of patients with congenital long QT syndrome (LQTS) a causative pathogenic mutation is not found. The aim of this study was to explore the prevalence of alternative cardiac diagnoses among patients exhibiting prolongation of QT interval with negative genetic testing for LQTS genes. METHODS: We conducted a retrospective analysis of 239 consecutive patients who were evaluated in the inherited arrhythmia clinic at the Toronto General Hospital between July 2013 and December 2015 for possible LQTS...
February 3, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28148729/psychiatric-disorders-in-adolescents-with-single-ventricle-congenital-heart-disease
#7
David R DeMaso, Johanna Calderon, George A Taylor, Jennifer E Holland, Christian Stopp, Matthew T White, David C Bellinger, Michael J Rivkin, David Wypij, Jane W Newburger
BACKGROUND AND OBJECTIVES: Mental health outcomes for survivors of critical congenital heart disease (CHD) remain under-investigated. We sought to examine psychiatric disorders and psychosocial functioning in adolescents with single ventricle CHD and to explore whether patient-related risk factors predict dysfunction. METHODS: This cohort study recruited 156 adolescents with single ventricle CHD who underwent the Fontan procedure and 111 healthy referents. Participants underwent comprehensive psychiatric evaluation including a clinician-rated psychiatric interview and parent- and self-report ratings of anxiety, disruptive behavior, including attention-deficit/hyperactivity disorder (ADHD), and depressive symptoms...
February 1, 2017: Pediatrics
https://www.readbyqxmd.com/read/28142228/notch1-dependent-nitric-oxide-signaling-deficiency-in-hypoplastic-left-heart-syndrome-revealed-through-patient-specific-phenotypes-detected-in-bioengineered-cardiogenesis
#8
Sybil C L Hrstka, Xing Li, Timothy J Nelson
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) attributable to multifactorial molecular underpinnings. Multiple genetic loci have been implicated to increase the risk of disease, yet genotype-phenotype relationships remain poorly defined. Whole genome sequencing complemented by cardiac phenotype from five individuals in an HLHS-affected family enabled the identification of NOTCH1 as a prioritized candidate gene linked to CHD in three individuals with mutant allele burden significantly impairing Notch signaling in the HLHS-affected proband...
January 31, 2017: Stem Cells
https://www.readbyqxmd.com/read/28138106/teratogenicity-of-antiepileptic-drugs
#9
Betül Tekin Güveli, Rasim Özgür Rosti, Alper Güzeltaş, Elif Bahar Tuna, Dilek Ataklı, Serra Sencer, Ensar Yekeler, Hülya Kayserili, Ahmet Dirican, Nerses Bebek, Betül Baykan, Ayşen Gökyiğit, Candan Gürses
Objective: Antiepileptic drugs (AED) have chronic teratogenic effects, the most common of which are congenital heart disease, cleft lip/palate, urogenital and neural tube defects. The aim of our study is to examine teratogenic effects of AED and the correlation between these malformations and AED in single or multiple pregnancies. Methods: This is a retrospective study of malformations in children born to mothers currently followed up by our outpatient clinics who used or discontinued AED during their pregnancy...
February 28, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28123459/role-of-micrornas-in-cardiac-development-and-disease
#10
Jing Tian, Xinjiang An, Ling Niu
Heart disease-related deaths are the highest in most societies and congenital heart diseases account for approximately 40% of prenatal deaths and over 20% of mortality in the first few months after birth. Congenital heart disease affects approximately 1% of all newborns and is the causative factor for more deaths within the first year of life as compared to all other genetic defects. Advances in treatment approaches increased life expectancy and led to an expansion of adult population with clinical manifestation of congenital heart defects in up to 90% of the children born with congenital heart diseases...
January 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28121514/genetic-drivers-of-kidney-defects-in-the-digeorge-syndrome
#11
Esther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, Blair R Anderson, Valentina P Capone, Edgar A Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J Steers, David A Fasel, Katarina Vukojevic, Rong Deng, Silvia E Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S Makar, Monica Bodria, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald S Petrey, Barry Honig, Vladimir J Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E van Wijk, Adela Arapovic, Mirna Saraga-Babic, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M McDonald-McGinn, Terrence B Crowley, Elaine H Zackai, Dorota Drozdz, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Maria Szczepanska, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, John M Darlow, Prem Puri, David Barton, Emilio Casolari, Susan L Furth, Bradley A Warady, Zoran Gucev, Hakon Hakonarson, Hana Flogelova, Velibor Tasic, Anna Latos-Bielenska, Anna Materna-Kiryluk, Landino Allegri, Craig S Wong, Iain A Drummond, Vivette D'Agati, Akira Imamoto, Jonathan M Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P Lifton, Bernice E Morrow, Cecile Jeanpierre, Virginia E Papaioannou, Gian Marco Ghiggeri, Ali G Gharavi, Nicholas Katsanis, Simone Sanna-Cherchi
Background The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. Methods We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies...
25, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28077469/risk-factors-for-excess-mortality-in-adults-with-congenital-heart-diseases
#12
Jose Maria Oliver, Pastora Gallego, Ana Elvira Gonzalez, Diego Garcia-Hamilton, Pablo Avila, Raquel Yotti, Ignacio Ferreira, Francisco Fernandez-Aviles
AIMS: To examine factors related to excess mortality in a cohort of adults with congenital heart disease (CHD). METHODS AND RESULTS: We conducted a survival analysis using prospective data of 3311 adults with CHD [50.5% males, median age at entry 22.5 years (IQR 18-39), median follow-up time 10.5 years (IQR: 4.4-18)]. Survival status of each patient was further verified by cross checking with the Spanish National Death Index. During a total follow-up of 37608 person-years, 336 (10%) patients died...
January 10, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#13
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28062416/blood-flow-patterns-underlie-developmental-heart-defects
#14
Madeline Midgett, Kent L Thornburg, Sandra Rugonyi
Although cardiac malformations at birth are typically associated with genetic anomalies, blood flow dynamics also play a crucial role in heart formation. However, the relationship between blood flow patterns in the early embryo and later cardiovascular malformation has not been determined. We used the chicken embryo model to quantify the extent to which anomalous blood flow patterns predict cardiac defects that resemble those in humans, and found that restricting either the inflow to the heart or the outflow led to reproducible abnormalities with a dose-response type relationship between blood flow stimuli and the expression of cardiac phenotypes...
January 6, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28035386/microduplication-of-7q36-3-encompassing-the-shh-long%C3%A2-range-regulator-zrs-in-a-patient-with-triphalangeal-thumb%C3%A2-polysyndactyly-syndrome-and-congenital-heart-disease
#15
Zhenghua Liu, Ni Yin, Lianghui Gong, Zhiping Tan, Bangliang Yin, Yifeng Yang, Cheng Luo
Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). The causative gene of TPT‑PS has been mapped to 7q36.3. Sonic hedgehog (SHH) expressed in the zone of polarizing activity (ZPA) has an important role in defining the anterior‑posterior axis and numbers of digits in limb bud development...
February 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28018896/factors-influencing-neurodevelopment-after-cardiac-surgery-during-infancy
#16
REVIEW
Hedwig Hubertine Hövels-Gürich
Short- and long-term neurodevelopmental (ND) disabilities with negative impact on psychosocial and academic performance, quality of life, and independence in adulthood are known to be the most common sequelae for surviving children after surgery for congenital heart disease (CHD). This article reviews influences and risk factors for ND impairment. For a long time, the search for independent risk factors was focused on the perioperative period and modalities of cardiopulmonary bypass (CPB). CPB operations to ensure intraoperative vital organ perfusion and oxygen supply with or without circulatory arrest or regional cerebral perfusion bear specific risks...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28018021/exome-sequencing-identifies-compound-heterozygous-mutations-in-scn5a-associated-with-congenital-complete-heart-block-in-the-thai-population
#17
Chuphong Thongnak, Pornprot Limprasert, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Chonlaphat Sukasem, Wasun Chantratita
Background. Congenital heart block is characterized by blockage of electrical impulses from the atrioventricular node (AV node) to the ventricles. This blockage can be caused by ion channel impairment that is the result of genetic variation. This study aimed to investigate the possible causative variants in a Thai family with complete heart block by using whole exome sequencing. Methods. Genomic DNA was collected from a family consisting of five family members in three generations in which one of three children in generation III had complete heart block...
2016: Disease Markers
https://www.readbyqxmd.com/read/28011082/-neonatal-arterial-ischemic-stroke-review-of-the-current-guidelines
#18
E Saliba, T Debillon, S Auvin, O Baud, V Biran, J-L Chabernaud, S Chabrier, F Cneude, A-G Cordier, V Darmency-Stamboul, J-F Diependaele, T Debillon, M Dinomais, C Durand, A Ego, G Favrais, Y Gruel, L Hertz-Pannier, B Husson, S Marret, S N'Guyen The Tich, T Perez, E Saliba, J-B Valentin, C Vuillerot
Neonatal arterial ischemic stroke (NAIS) is a rare event that occurs in approximately one in 5000 term or close-to-term infants. Most affected infants will present with seizures. Although a well-recognized clinical entity, many questions remain regarding diagnosis, risk factors, treatment, and follow-up modalities. In the absence of a known pathophysiological mechanism and lack of evidence-based guidelines, only supportive care is currently provided. To address these issues, a French national committee set up by the French Neonatal Society (Société française de néonatologie) and the national referral center (Centre national de référence) for arterial ischemic stroke in children drew up guidelines based on an HAS (Haute Autorité de santé [HAS]; French national authority for health) methodology...
February 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27996060/highly-variable-penetrance-of-abnormal-phenotypes-in-embryonic-lethal-knockout-mice
#19
Robert Wilson, Stefan H Geyer, Lukas Reissig, Julia Rose, Dorota Szumska, Emily Hardman, Fabrice Prin, Christina McGuire, Ramiro Ramirez-Solis, Jacqui White, Antonella Galli, Catherine Tudor, Elizabeth Tuck, Cecilia Mazzeo, James C Smith, Elizabeth Robertson, David J Adams, Timothy Mohun, Wolfgang J Weninger
Background: Identifying genes that are essential for mouse embryonic development and survival through term is a powerful and unbiased way to discover possible genetic determinants of human developmental disorders. Characterising the changes in mouse embryos that result from ablation of lethal genes is a necessary first step towards uncovering their role in normal embryonic development and establishing any correlates amongst human congenital abnormalities. Methods: Here we present results gathered to date in the Deciphering the Mechanisms of Developmental Disorders (DMDD) programme, cataloguing the morphological defects identified from comprehensive imaging of 220 homozygous mutant embryos from 42 lethal and subviable lines, analysed at E14...
November 15, 2016: Wellcome Open Res
https://www.readbyqxmd.com/read/27984612/-molecular-cytogenetic-analysis-of-a-case-with-ring-chromosome-3-syndrome
#20
Kaihui Zhang, Fengling Song, Dongdong Zhang, Haiyan Zhang, Ying Wang, Rui Dong, Yufeng Zhang, Yi Liu, Zhongtao Gai
OBJECTIVE: To investigate the genetic cause for a child with developmental delay and congenital heart disease through molecular cytogenetic analysis. METHODS: G-banded karyotyping and chromosomal microarray analysis (CMA) were performed for the patient and his parents. RESULTS: The proband's karyotype was detected as ring chromosome 3, and a 3q26.3-25.3 deletion encompassing 45 genes has been found with CMA. Testing of both parents was normal...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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