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Congenital heart diseases and genetics

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https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#1
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28302752/lower-circulating-folate-induced-by-a-fidgetin-intronic-variant-is-associated-with-reduced-congenital-heart-disease-susceptibility
#2
Dan Wang, Feng Wang, Kai-Hu Shi, Hui Tao, Yang Li, Rui Zhao, Han Lu, Wenyuan Duan, Bin Qiao, Shi-Min Zhao, Hongyan Wang, Jian-Yuan Zhao
Background -Folate deficiency is an independent risk factor for congenital heart disease (CHD); however, the maternal plasma folate level is paradoxically not a good diagnostic marker. Genome-wide surveys have identified variants of non-folate metabolic genes associated with the plasma folate level, suggesting that these genetic polymorphisms are potential risk factors for CHD. Methods -To examine the effects of folate concentration-related variations on CHD risk in the Han Chinese population, we performed three independent case-control studies including a total of 1,489 CHD patients and 1,745 controls...
March 16, 2017: Circulation
https://www.readbyqxmd.com/read/28302743/heart-failure-in-pediatric-patients-with-congenital-heart-disease
#3
Robert B Hinton, Stephanie M Ware
Heart failure (HF) is a complex clinical syndrome resulting from diverse primary and secondary causes and shared pathways of disease progression, correlating with substantial mortality, morbidity, and cost. HF in children is most commonly attributable to coexistent congenital heart disease, with different risks depending on the specific type of malformation. Current management and therapy for HF in children are extrapolated from treatment approaches in adults. This review discusses the causes, epidemiology, and manifestations of HF in children with congenital heart disease and presents the clinical, genetic, and molecular characteristics that are similar or distinct from adult HF...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28302740/genetics-and-genomics-of-congenital-heart-disease
#4
Samir Zaidi, Martina Brueckner
Congenital heart disease is the most common birth defect, and because of major advances in medical and surgical management, there are now more adults living with congenital heart disease (CHD) than children. Until recently, the cause of the majority of CHD was unknown. Advances in genomic technologies have discovered the genetic causes of a significant fraction of CHD, while at the same time pointing to remarkable complexity in CHD genetics. This review will focus on the evidence for genetic causes underlying CHD and discuss data supporting both monogenic and complex genetic mechanisms underlying CHD...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28290856/-chronic-heart-failure-with-preserved-systolic-function-and-reversible-dilatation-of-cardiac-chambers
#5
O V Blagova, S V Volkov, A V Nedostup, A O Korobkov, I V Mostovoy, N G Sergushina, N V Gagarina, E A Mershina
Diagnosis of dilation (D) cardiomyopathy (CMP) requires exclusion not only of inflammatory and genetically determined forms but also of some rare diseases. This 51 year old patient with history of moderate arterial hypertension approached a cardiologist because of new onset atrial fibrillation and dyspnea. Echocardiography detected dilation of all cardiac chambers with relatively preserved ejection fraction, causing suspicion of DCMP. Among conditions excluded were coronary atherosclerosis, congenital heart defect with left to right shunt, primary pulmonary hypertension, pulmonary embolism, hypertensive heart, tachycardia induced CMP, arrhythmogenic right ventricular dysplasia, noncompaction myocardium...
June 2016: Kardiologiia
https://www.readbyqxmd.com/read/28288113/germline-mutations-in-abl1-cause-an-autosomal-dominant-syndrome-characterized-by-congenital-heart-defects-and-skeletal-malformations
#6
Xia Wang, Wu-Lin Charng, Chun-An Chen, Jill A Rosenfeld, Aisha Al Shamsi, Lihadh Al-Gazali, Marianne McGuire, Nicholas Ah Mew, Georgianne L Arnold, Chunjing Qu, Yan Ding, Donna M Muzny, Richard A Gibbs, Christine M Eng, Magdalena Walkiewicz, Fan Xia, Sharon E Plon, James R Lupski, Christian P Schaaf, Yaping Yang
ABL1 is a proto-oncogene well known as part of the fusion gene BCR-ABL1 in the Philadelphia chromosome of leukemia cancer cells. Inherited germline ABL1 changes have not been associated with genetic disorders. Here we report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. The variant c.734A>G (p.Tyr245Cys) was found to occur de novo or cosegregate with disease in five individuals (families 1-3)...
March 13, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28275421/treating-a-structural-heart-disease-using-a-non-structural-approach-role-of-cardiac-pacing-in-hypertrophic-cardiomyopathy
#7
Bernard Benjamin P Albano, Erdie C Fadreguilan, Jeffrey M Chua, James Ho, Ana Beatriz Medrano
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease characterized by a thickened non-dilated ventricle in the absence of another cardiac or systemic condition. Its most important hemodynamic consequence is left ventricular outflow tract (LVOT) obstruction. The primary management strategy of this condition is surgical septal myectomy, but an acceptable alternative treatment in patients who are not suitable for (or who refuse) surgery is alcohol septal ablation (ASA). However, in patients with unfavorable coronary anatomy which precludes ASA (i...
February 2017: Cardiology Research
https://www.readbyqxmd.com/read/28274167/an-update-on-the-molecular-diagnosis-of-congenital-heart-disease-focus-on-loss-of-function-mutations
#8
Yan-Jie Li, Yi-Qing Yang
Congenital heart disease (CHD) is the most common birth defect in humans. In spite of tremendous advance in medical care, CHD is still a major contributor to substantial morbidity and mortality. Aggregating evidence demonstrates that genetic defects play a pivotal role in the pathogenesis of CHD, and an increasing number of genetic mutations have been identified to be responsible for CHD. Areas covered: This paper is restricted to the molecular diagnosis of CHD, and highlights loss-of-function mutations in the genes associated with CHD...
March 8, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28270426/aortopathies-in-adult-congenital-heart-disease-and-genetic-aortopathy-syndromes-management-strategies-and-indications-for-surgery
#9
Joey M Kuijpers, Barbara Jm Mulder
No abstract text is available yet for this article.
March 7, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28266898/hepatic-malignancy-in-an-infant-with-wolf-hirschhorn-syndrome
#10
Sara Rutter, Raffaella A Morotti, Steven Peterec, Patrick G Gallagher
INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16 region associated with growth failure, characteristic craniofacial abnormalities, cardiac defects, and seizures. CASE REPORT: This report describes a six-month-old girl with WHS with growth failure and typical craniofacial features who died of complex congenital heart disease. Genetic studies revealed a 9.8 Mb chromosome 4p-terminal deletion. At autopsy, the liver was grossly unremarkable...
March 7, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28260505/copy-number-variations-with-isolated-fetal-ventriculomegaly
#11
P Hu, Y Wang, R Sun, L Cao, X Chen, C Liu, C Luo, D Ma, W Wang, X Fu, W Shi, S Yi, K Zhang, H Liu, Z Xu
BACKGROUND: Copy Number Variations (CNVs) are an important genetic cause of a number of neurodevelopmental disorders (NDs). However, the association between CNVs and the development and prognosis of isolated fetal ventriculomegaly (IMV) is unclear. OBJECTIVES: To investigate possible associations between CNVs and the development of fetal IMV. METHODS: This retrospective study recruited 154 subjects with ultrasound-confirmed fetal IMV and 190 subjects in a control cohort who underwent a high-risk prenatal serum screening program...
March 3, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28246128/a-comprehensive-talen-based-knockout-library-for-generating-human-induced-pluripotent-stem-cell-based-models-for-cardiovascular-diseases
#12
Ioannis Karakikes, Vittavat Termglinchan, Diana A Cepeda, Jaecheol Lee, Sebastian Diecke, Ayal Hendel, Ilanit Itzhaki, Mohamed Ameen, Rajani Shrestha, Haodi Wu, Ning Ma, Ning-Yi Shao, Timon Seeger, Nicole A Woo, Kitchener D Wilson, Elena Matsa, Matthew H Porteus, Vittorio Sebastiano, Joseph C Wu
Rationale: Targeted genetic engineering using programmable nucleases such as transcription activator-like effector nucleases (TALENs) is a valuable tool for precise, site-specific genetic modification in the human genome. Objective: The emergence of novel technologies such as human induced pluripotent stem cells (iPSCs) and nuclease-mediated genome editing represent a unique opportunity for studying cardiovascular diseases in vitro. Methods and Results: By incorporating extensive literature and database searches, we designed a collection of TALEN constructs to knockout (KO) eighty-eight human genes that are associated with cardiomyopathies and congenital heart diseases...
February 28, 2017: Circulation Research
https://www.readbyqxmd.com/read/28230599/a-targeted-next-generation-genetic-sequencing-study-on-tetralogy-of-fallot-combined-with-cleft-lip-and-palate
#13
Lin Liu, Haisong Bu, Yifeng Yang, Zhiping Tan, Fei Zhang, Shijun Hu, Tianli Zhao
BACKGROUND: Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question. METHODS: The authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28224467/appropriate-use-of-genetic-testing-in-congenital-heart-disease-patients
#14
REVIEW
Seiji Ito, Kimberly A Chapman, Monisha Kisling, Anitha S John
PURPOSE OF REVIEW: Congenital heart disease (CHD) remains the most common birth defect, occurring in 1% of all births. Although the exact etiology of CHD is still largely unknown, it is thought to be an interaction of genetic and non-genetic factors. The purposes of this review are to summarize recent advances in CHD genetics and testing and to present a suggested algorithm for appropriate use of genetic testing in patients with CHD. RECENT FINDINGS: Advances in genetic testing technology are rapidly expanding the options for screening and are providing further insights into the genetic and molecular background of non-syndromic CHD...
March 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28223051/functional-status-and-quality-of-life-in-survivors-of-extracorporeal-membrane-oxygenation-after-the-norwood-operation
#15
Joshua M Friedland-Little, Karen Uzark, Sunkyung Yu, Ray Lowery, Ranjit Aiyagari, Jennifer C Hirsch-Romano
BACKGROUND: Infants who require extracorporeal membrane oxygenation (ECMO) support after a Norwood operation are at increased risk for early and late death compared with patients who do not require ECMO post-Norwood. Little is known about the effect that ECMO post-Norwood has on functional status and quality of life among long-term survivors. METHODS: We prospectively evaluated functional status and health-related quality of life in 12 surviving patients (cases) and 19 corresponding patients (controls) from a previous retrospective case-control assessment of long-term survival in patients requiring ECMO post-Norwood...
February 18, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28212480/-reintervention-with-percutaneous-balloon-angioplasty-in-patients-with-congenital-heart-disease-with-left-sided-obstructions
#16
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
#17
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
#18
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
#19
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
#20
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
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