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Heterotaxy

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https://www.readbyqxmd.com/read/27878633/cardiopulmonary-exercise-testing-in-fontan-patients-with-and-without-isomerism-heterotaxy-as-compared-to-patients-with-primary-ciliary-dyskinesia-and-subjects-with-structurally-normal-hearts
#1
Rohit S Loomba, Michael Danduran, Kim G Nielsen, Astrid M Ring, Joshua Kovach, Robert H Anderson
Isomerism, also known as heterotaxy, is a clinical entity that impacts multiple organ systems both anatomically and functionally. The airways and lungs are involved in a great number of these patients, leading to increased sinopulmonary symptoms, increased need for oxygenation, and increased postoperative ventilatory support. Additionally, these patients often have congenital heart disease requiring Fontan palliation. What has not been previously described, and is the focus of this study, is the results of cardiopulmonary exercise testing in those who have undergone Fontan palliation with and without isomerism...
November 23, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27864025/heterotaxy-syndrome-with-and-without-spleen-different-infection-risk-and-management
#2
Eva Piano Mortari, Anwar Baban, Nicoletta Cantarutti, Chiara Bocci, Rachele Adorisio, Rita Carsetti
We compared the clinical disease and immunological conditions of Heterotaxy syndrome patients with or without spleen and found that asplenia is associated to significant increased frequency of infection and reduction of IgM memory B cells.
November 15, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27844411/fetal-situs-isomerism-heterotaxy-syndrome-diagnostic-evaluation-and-implication-for-postnatal-management
#3
REVIEW
Karl Degenhardt, Jack Rychik
A hallmark of vertebrate anatomy is asymmetry of structures, especially internal organs, on the left and right side of the body. Heterotaxy syndrome is the combination of correct-sided, and incorrect-sided organs. The establishment of the left-right axis is an early event in vertebrate embryogenesis. Failure to establish this axis has numerous consequences for later development and can result in a wide range of potential defects. Congenital heart disease is among the more frequent and serious problems. Heterotaxy syndrome is diagnosed prenatally with increasing frequency due to improved screening practices...
December 2016: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/27843561/predictors-of-poor-outcome-among-children-with-heterotaxy-syndrome-a-retrospective-review
#4
Eiméar McGovern, Eoin Kelleher, James E Potts, John O'Brien, Kevin Walsh, Lars Nolke, Colin J McMahon
OBJECTIVE: To determine predictors of poor outcome in patients with heterotaxy syndrome. METHODS: A retrospective review of children with heterotaxy syndrome, in a single tertiary paediatric cardiology centre, was conducted between 1 January 1997 and 1 January 2014 to determine predictors of poor outcome. Poor outcome was defined as death, cardiac transplantation or New York Heart Association (NYHA) functional class III or IV. RESULTS: There were 35 patients diagnosed with heterotaxy syndrome, 17 of whom were diagnosed antenatally...
2016: Open Heart
https://www.readbyqxmd.com/read/27832130/detecting-mechanisms-of-karyotype-evolution-in-heterotaxis-orchidaceae
#5
Ana Paula Moraes, André Olmos Simões, Dario Isidro Ojeda Alayon, Fábio de Barros, Eliana Regina Forni-Martins
The karyotype is shaped by different chromosome rearrangements during species evolution. However, determining which rearrangements are responsible for karyotype changes is a challenging task and the combination of a robust phylogeny with refined karyotype characterization, GS measurements and bioinformatic modelling is necessary. Here, this approach was applied in Heterotaxis to determine what chromosome rearrangements were responsible for the dysploidy variation. We used two datasets (nrDNA and cpDNA, both under MP and BI) to infer the phylogenetic relationships among Heterotaxis species and the closely related genera Nitidobulbon and Ornithidium...
2016: PloS One
https://www.readbyqxmd.com/read/27821535/copy-number-variation-as-a-genetic-basis-for-heterotaxy-and-heterotaxy-spectrum-congenital-heart-defects
#6
Jason R Cowan, Muhammad Tariq, Chad Shaw, Mitchell Rao, John W Belmont, Seema R Lalani, Teresa A Smolarek, Stephanie M Ware
Genomic disorders and rare copy number abnormalities are identified in 15-25% of patients with syndromic conditions, but their prevalence in individuals with isolated birth defects is less clear. A spectrum of congenital heart defects (CHDs) is seen in heterotaxy, a highly heritable and genetically heterogeneous multiple congenital anomaly syndrome resulting from failure to properly establish left-right (L-R) organ asymmetry during early embryonic development. To identify novel genetic causes of heterotaxy, we analysed copy number variants (CNVs) in 225 patients with heterotaxy and heterotaxy-spectrum CHDs using array-based genotyping methods...
December 19, 2016: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/27821534/heterotaxy-in-caenorhabditis-widespread-natural-variation-in-left-right-arrangement-of-the-major-organs
#7
Melissa R Alcorn, Davon C Callander, Agustín López-Santos, Yamila N Torres Cleuren, Bilge Birsoy, Pradeep M Joshi, Anna W Santure, Joel H Rothman
Although the arrangement of internal organs in most metazoans is profoundly left-right (L/R) asymmetric with a predominant handedness, rare individuals show full (mirror-symmetric) or partial (heterotaxy) reversals. While the nematode Caenorhabditis elegans is known for its highly determinate development, including stereotyped L/R organ handedness, we found that L/R asymmetry of the major organs, the gut and gonad, varies among natural isolates of the species in both males and hermaphrodites. In hermaphrodites, heterotaxy can involve one or both bilaterally asymmetric gonad arms...
December 19, 2016: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/27817752/right-aortic-arch-with-isolation-of-the-left-subclavian-artery-a-rare-association-with-airway-obstruction
#8
Putri Yubbu, Haifa A Latiff, Abdel Moneim Adam Abbaker
We present two interesting cases of isolated left subclavian artery from the pulmonary artery with symptoms of upper airway obstruction. The first patient had tetralogy of Fallot, pulmonary artery sling, bilateral superior caval veins, and left bronchial isomerism, suggesting heterotaxy syndrome. The second patient had a right aortic arch, isolated left subclavian artery, and bilateral arterial ducts. These two cases are interesting because of their rarity and uncommon presentation.
November 7, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27735157/ivemark-syndrome
#9
Pushpa Masiwal, K S Chenthil, B Priyadarsini, J Gnanaprakasam, Iyengaran Srihari
Ivemark syndrome or right atrial isomerism is a rare syndrome of asplenia / hyposplenia with malformation of heart and abnormal arrangement of internal organs of chest and abdomen and is classified under heterotaxy disorder. We describe here the case of a 14 year old boy diagnosed with asplenia, dextrocardia with double outlet right ventricle and midline liver.
May 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27713611/fontan-operation-in-a-patient-with-severe-hypoplastic-right-pulmonary-artery-single-ventricle-and-heterotaxy-syndrome
#10
Jun-Yen Pan, Chu-Chuan Lin, Jen-Ping Chang
Assessment of the pulmonary circulation status including pressure, resistance, size, and absence of anatomical distortion, is crucial to the successful Fontan operation. Most patients are found to have acceptable pulmonary arteries after previous palliation, although some degree of distortion is not uncommon. However, in rare instances, some patients have only one functioning lung with another pulmonary artery seriously hypoplastic or atretic. For theses patients, completion of a Fontan operation will be challenging...
September 2016: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/27679871/factors-influencing-bacteraemia-in-patients-with-isomerism-and-chd-the-effects-of-functional-splenic-status-and-antibiotic-prophylaxis
#11
Rohit S Loomba, Andrew N Pelech, Robert H Anderson
BACKGROUND: "Heterotaxy syndrome", best segregated as isomerism, is characterised by laterality defects of the thoraco-abdominal organs, causing functional impairment. In particular, the spleen is frequently affected, increasing susceptibility to bacteraemia. This study explored factors that may increase the risk of bacteraemia in patients with isomerism. METHODS: We identified patients with CHD and isomerism. Review of outpatient, inpatient, and surgical records was conducted to collect data and determine trends in the cohort...
September 29, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27676165/transhepatic-permanent-pacing-in-a-child-with-complex-cyanotic-heart-disease-after-total-cavo-pulmonary-shunt-kawashima-repair
#12
Anilkumar Singhi, Ejaz Ahmed Sheriff, Kothandam Sivakumar
Complex cyanotic congenital heart diseases with left isomerism are sometimes associated with atrioventricular nodal conduction disturbances that may need permanent pacing. Surgical palliation in such anatomy connecting the superior vena cava to the pulmonary artery precludes a transvenous access for an endocardial pacing lead to the ventricles. Epicardial leads in these patients fail if the pacing thresholds are very high. We report transhepatic permanent ventricular lead implantation for a young boy with heterotaxy complicated by complete heart block...
March 2016: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/27660582/pulmonary-hypertension-in-a-patient-with-congenital-heart-defects-and-heterotaxy-syndrome
#13
Tariq Yousuf, Jason Kramer, Brody Jones, Hesam Keshmiri, Muhyaldeen Dia
BACKGROUND: Heterotaxy syndrome, also called isomerism, is a condition in which abdominal and thoracic organs are located in abnormal body positions. Pulmonary hypertension (PHTN) is an uncommon clinical feature of heterotaxy syndrome. CASE REPORT: We describe the case of a 26-year-old male who developed PHTN as a rare manifestation of heterotaxy syndrome. To our knowledge, PHTN has never been reported as a prominent clinical feature in a patient with heterotaxy syndome and congenital cardiac abnormalities...
2016: Ochsner Journal
https://www.readbyqxmd.com/read/27641144/high-burden-of-genetic-conditions-diagnosed-in-a-cardiac-neurodevelopmental-clinic
#14
Paula C Goldenberg, Betsy J Adler, Ashley Parrott, Julia Anixt, Karen Mason, Jannel Phillips, David S Cooper, Stephanie M Ware, Bradley S Marino
BACKGROUND: There is a known high prevalence of genetic and clinical syndrome diagnoses in the paediatric cardiac population. These disorders often have multisystem effects, which may have an important impact on neurodevelopmental outcomes. Taken together, these facts suggest that patients and families may benefit from consultation by genetic specialists in a cardiac neurodevelopmental clinic. OBJECTIVE: This study assessed the burden of genetic disorders and utility of genetics evaluation in a cardiac neurodevelopmental clinic...
September 19, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27637763/copy-number-variant-analysis-of-classic-heterotaxy-highlights-the-importance-of-body-patterning-pathways
#15
Erin M Hagen, Robert J Sicko, Denise M Kay, Shannon L Rigler, Aggeliki Dimopoulos, Shabbir Ahmad, Margaret H Doleman, Ruzong Fan, Paul A Romitti, Marilyn L Browne, Michele Caggana, Lawrence C Brody, Gary M Shaw, Laura L Jelliffe-Pawlowski, James L Mills
Classic heterotaxy consists of congenital heart defects with abnormally positioned thoracic and abdominal organs. We aimed to uncover novel, genomic copy-number variants (CNVs) in classic heterotaxy cases. A microarray containing 2.5 million single-nucleotide polymorphisms (SNPs) was used to genotype 69 infants (cases) with classic heterotaxy identified from California live births from 1998 to 2009. CNVs were identified using the PennCNV software. We identified 56 rare CNVs encompassing genes in the NODAL (NIPBL, TBX6), BMP (PPP4C), and WNT (FZD3) signaling pathways, not previously linked to classic heterotaxy...
December 2016: Human Genetics
https://www.readbyqxmd.com/read/27618959/the-analysis-of-heterotaxy-patients-reveals-new-loss-of-function-variants-of-grk5
#16
Davor Lessel, Tariq Muhammad, Teresa Casar Tena, Barbara Moepps, Martin D Burkhalter, Marc-Phillip Hitz, Okan Toka, Axel Rentzsch, Stephan Schubert, Adelheid Schalinski, Ulrike M M Bauer, Christian Kubisch, Stephanie M Ware, Melanie Philipp
G protein-coupled receptor kinase 5 (GRK5) is a regulator of cardiac performance and a potential therapeutic target in heart failure in the adult. Additionally, we have previously classified GRK5 as a determinant of left-right asymmetry and proper heart development using zebrafish. We thus aimed to identify GRK5 variants of functional significance by analysing 187 individuals with laterality defects (heterotaxy) that were associated with a congenital heart defect (CHD). Using Sanger sequencing we identified two moderately frequent variants in GRK5 with minor allele frequencies <10%, and seven very rare polymorphisms with minor allele frequencies <1%, two of which are novel variants...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27616478/bi-allelic-mutations-in-pkd1l1-are-associated-with-laterality-defects-in-humans
#17
Francesco Vetrini, Lisa C A D'Alessandro, Zeynep C Akdemir, Alicia Braxton, Mahshid S Azamian, Mohammad K Eldomery, Kathryn Miller, Chelsea Kois, Virginia Sack, Natasha Shur, Asha Rijhsinghani, Jignesh Chandarana, Yan Ding, Judy Holtzman, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Christine M Eng, Neil A Hanchard, Tamar Harel, Jill A Rosenfeld, John W Belmont, James R Lupski, Yaping Yang
Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of laterality defects in humans are highly heterogeneous. Via whole-exome sequencing (WES), we identified homozygous mutations in PKD1L1 from three affected individuals in two unrelated families. PKD1L1 encodes a polycystin-1-like protein and its loss of function is known to cause laterality defects in mouse and medaka fish models...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27610349/single-institution-experience-with-the-ladd-s-procedure-in-patients-with-heterotaxy-and-stage-i-palliated-single-ventricle
#18
Kurt D Piggott, Grace George, Harun Fakioglu, Carlos Blanco, Sukumar Saguna Narasimhulu, Kamal Pourmoghadam, Hamish Munroe, William Decampli
AIM: To investigate and describe our current institutional management protocol for single-ventricle patients who must undergo a Ladd's procedure. METHODS: We retrospectively reviewed the charts of all patients from January 2005 to March 2014 who were diagnosed with heterotaxy syndrome and an associated intestinal rotation anomaly who carried a cardiac diagnosis of functional single ventricle and were status post stage I palliation. A total of 8 patients with a history of stage I single-ventricle palliation underwent Ladd's procedure during this time period...
August 8, 2016: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/27593162/congenital-heart-disease-genetics-uncovers-context-dependent-organization-and-function-of-nucleoporins-at-cilia
#19
Florencia Del Viso, Fang Huang, Jordan Myers, Madeleine Chalfant, Yongdeng Zhang, Nooreen Reza, Joerg Bewersdorf, C Patrick Lusk, Mustafa K Khokha
Human genomics is identifying candidate genes for congenital heart disease (CHD), but discovering the underlying mechanisms remains challenging. In a patient with CHD and heterotaxy (Htx), a disorder of left-right patterning, we previously identified a duplication in Nup188. However, a mechanism to explain how a component of the nuclear pore complex (NPC) could cause Htx/CHD was undefined. Here, we show that knockdown of Nup188 or its binding partner Nup93 leads to a loss of cilia during embryonic development while leaving NPC function largely intact...
September 12, 2016: Developmental Cell
https://www.readbyqxmd.com/read/27516034/partial-abnormal-drainage-of-superior-and-inferior-caval-veins-into-the-left-atrium-two-case-reports
#20
Massimo Chessa, Mario Carminati, Eliza Elena Cinteză, Gianfranco Butera, Luca Giugno, Carmelo Arcidiacono, Luciane Piazza, Nicolae Cristian Bulescu, Giuseppe Pome, Alessandro Frigiola, Alessandro Giamberti
Abnormal connection of the right superior caval vein to the left atrium is an uncommon systemic vein drainage anomaly, with only a few cases reported among congenital heart disease (CHD), around 20 cases published in the medical literature. The inferior vena cava connection with the left atrium, also very rare, can appear directly or in heterotaxy. Clinical suspicion arises due to the presence of cyanosis in the absence of other specific clinical signs (without other associated CHD). We present the cases of two children with abnormal superior and inferior systemic venous return...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
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