Read by QxMD icon Read


Khalid Mahmood, Mukhtar A Memon, Shabbir A Naeem
No abstract text is available yet for this article.
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Hirofumi Obinata, Shinichi Nishibe, Yoko Ishihara
Background: Heterotaxy syndrome (HS) is characterized by a wide variety of cardiac and extra-cardiac malformations, including pulmonary valve stenosis, interruption of the inferior vena cava, total anomalous pulmonary venous connection (TAPVC), asplenia, polysplenia, intestinal malrotation, and preduodenal portal vein (PDPV). We report the case of a heterotaxic infant with an infracardiac TAPVC and preduodenal portal vein who experienced repetitive hemodynamic instability during urgent laparotomy for duodenal obstruction...
2018: JA Clin Rep
Yohei Yamada, Ken Hoshino, Takayuki Oyanagi, Ryohei Gatayama, Jun Maeda, Nobuyuki Katori, Yasushi Fuchimoto, Taizo Hibi, Masahiro Shinoda, Kentaro Matsubara, Hideaki Obara, Ryo Aeba, Yuko Kitagawa, Hiroyuki Yamagishi, Tatsuo Kuroda
Children with single ventricle physiology have complete mixing of the pulmonary and systemic circulations, requiring staged procedures to achieve a separation of these circulations, or Fontan circulation. The single ventricle physiology significantly increases the risk of mortality in children undergoing non-cardiac surgery. As liver transplantation for patients with single ventricle physiology is particularly challenging, only a few reports have been published. We herein report a case of successful LDLTx for an 8-month-old pediatric patient with biliary atresia, heterotaxy, and complex heart disease of single ventricle physiology...
February 19, 2018: Pediatric Transplantation
Shelby C White, Peter N Dean, Eugene D McGahren, James J Gangemi, Jeffrey Vergales
BACKGROUND: Patients with heterotaxy syndrome (HS) often have asymptomatic malrotation. There is a lack of consensus regarding the management of these patients, particularly in patients with complex congenital heart disease (CHD). We sought to describe the prevalence of malrotation and incidence of volvulus in a population of patients with complex CHD and to identify the impact of malrotation on morbidity and mortality following cardiac surgery. METHODS: We performed a retrospective review of all patients with HS and complex CHD who required cardiac surgery in the first year of life at a single center between October 1995 and September 2015...
January 31, 2018: Journal of Pediatric Surgery
Hugo R Martinez, Stephanie M Ware, Marcus S Schamberger, John J Parent
Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by compact and trabecular layers of the left ventricular myocardium. This cardiomyopathy may occur with congenital heart disease (CHD). Single cases document co-occurrence of LVNC and heterotaxy, but no data exist regarding the prevalence of this association. This study sought to determine whether a non-random association of LVNC and heterotaxy exists by evaluating the prevalence of LVNC in patients with heterotaxy. In a retrospective review of the Indiana Network for Patient Care, we identified 172 patients with heterotaxy (69 male, 103 female)...
September 2017: Progress in Pediatric Cardiology
Stephen P Sanders, Tal Geva
No abstract text is available yet for this article.
February 2018: Circulation. Cardiovascular Imaging
Deane Yim, Hazumu Nagata, Christopher Z Lam, Lars Grosse-Wortmann, Mike Seed, Edgar Jaeggi, Shi-Joon Yoo
BACKGROUND: It is advocated that heterotaxy should be segregated into right or left isomerism according to atrial appendage morphology. However, atrial situs determination is often based on the pattern of associated findings rather than on atrial morphology itself, which can be difficult to define. The objective was to assess how often concordant patterns of isomerism classified by atrial appendage morphology, bronchopulmonary pattern, and splenic status are breached using cardiac magnetic resonance or computed tomography...
February 2018: Circulation. Cardiovascular Imaging
Maliha Zahid, Abha Bais, Xin Tian, William Devine, Dong Ming Lee, Cyrus Yau, Daniel Sonnenberg, Lee Beerman, Omar Khalifa, Cecilia W Lo
BACKGROUND: Our prior work on congenital heart disease (CHD) with heterotaxy, a birth defect involving randomized left-right patterning, has shown an association of a high prevalence of airway ciliary dysfunction (CD; 18/43 or 42%) with increased respiratory symptoms. Furthermore, heterotaxy patients with ciliary dysfunction were shown to have more postsurgical pulmonary morbidities. These findings are likely a reflection of the common role of motile cilia in both airway clearance and left-right patterning...
2018: PloS One
Helen M Bellchambers, Stephanie M Ware
Mutation of ZIC3 causes X-linked heterotaxy, a syndrome in which the laterality of internal organs is disrupted. Analysis of model organisms and gene expression during early development suggests ZIC3-related heterotaxy occurs due to defects at the earliest stage of left-right axis formation. Although there are data to support abnormalities of the node and cilia as underlying causes, it is unclear at the molecular level why loss of ZIC3 function causes such these defects. ZIC3 has putative roles in a number of developmental signalling pathways that have distinct roles in establishing the left-right axis...
2018: Advances in Experimental Medicine and Biology
Robert H Anderson, Diane E Spicer, Rohit Loomba
Pediatric cardiologists treating patients with severe congenital cardiac defects define "visceral heterotaxy" on the basis of isomerism of the atrial appendages. The isomeric features represent an obvious manifestation of disruption of left-right asymmetry during embryonic development. Thus, there are two subsets of individuals within the overall syndrome, with features of either right or left isomerism. Within the heart, it is only the atrial appendages that are truly isomeric. The remainder of the cardiac components shows variable morphology, as does the arrangement of the remaining body organs...
February 6, 2018: Journal of Cardiovascular Development and Disease
Stéphanie Cupers, Christine Van Linthout, Brigitte Desprechins, Léon Rausin, Martine Demarche, Marie-Christine Seghaye
No abstract text is available yet for this article.
January 8, 2018: Clinics and Practice
Marwan M Refaat, Jad Ballout, Moussa Mansour
With improved surgical techniques and medical management for patients with congenital heart diseases, more patients are living longer and well into adulthood. This improved survival comes with a price of increased morbidity, mainly secondary to increased risk of tachyarrhythmias. One of the major arrhythmias commonly encountered in this subset of cardiac patients is AF. Similar to the general population, the risk of AF increases with advancing age, and is mainly secondary to the abnormal anatomy, abnormal pressure and volume parameters in the hearts of these patients and to the increased scarring and inflammation seen in the left atrium following multiple surgical procedures...
December 2017: Arrhythmia & Electrophysiology Review
Adil Omer, Dana Haddad, Leszek Pisinski, Alan V Krauthamer
We report a case of absent pituitary infundibulum and ectopic neurohypophysis in a 4-year-old patient presenting clinically with hypopituitarism as well as heterotaxy syndrome complicated by global developmental delay and growth retardation. The clinical and laboratory workup of our patient suggested underlying hypopituitarism related to either congenital or acquired pathology, necessitating MRI to distinguish between them. We explain the various structural causes of hypopituitarism and detail how to predict the MRI findings and treatment, based on a fundamental understanding of the anatomy and pathophysiology of the hypothalamic pituitary axis and distinguishing anterior versus posterior pituitary hormone derangements...
September 2017: Journal of Radiology Case Reports
John N Griffin, Florencia Del Viso, Anna R Duncan, Andrew Robson, Woong Hwang, Saurabh Kulkarni, Karen J Liu, Mustafa K Khokha
Canonical Wnt signaling coordinates many critical aspects of embryonic development, while dysregulated Wnt signaling contributes to common diseases, including congenital malformations and cancer. The nuclear localization of β-catenin is the defining step in pathway activation. However, despite intensive investigation, the mechanisms regulating β-catenin nuclear transport remain undefined. In a patient with congenital heart disease and heterotaxy, a disorder of left-right patterning, we previously identified the guanine nucleotide exchange factor, RAPGEF5...
December 27, 2017: Developmental Cell
Spyridon Pagkratis, Sara Kryeziu, Miranda Lin, Samah Hoque, Juan Carlos Bucobo, Jonathan M Buscaglia, Georgios V Georgakis, Aaron R Sasson, Joseph Kim
RATIONALE: Heterotaxy with polysplenia is an extremely rare congenital condition resulting from abnormal arrangement of organs in the abdominal and thoracic cavities during embryologic development. When a malignancy such as pancreatic cancer develops under these conditions, surgical resection becomes particularly complex. This case report demonstrates successful pancreatic cancer resection despite the patient's complicated anatomy. PATIENT CONCERNS: An 82-year-old female presented to our institution with complaints of mild right upper quadrant pain radiating to the mid-epigastric region...
December 2017: Medicine (Baltimore)
Verity L Hartill, Glenn van de Hoek, Mitali P Patel, Rosie Little, Christopher M Watson, Ian R Berry, Amelia Shoemark, Dina Abdelmottaleb, Emma Parkes, Chiara Bacchelli, Katarzyna Szymanska, Nine V Knoers, Peter J Scambler, Marius Ueffing, Karsten Boldt, Robert Yates, Paul J Winyard, Beryl Adler, Eduardo Moya, Louise Hattingh, Anil Shenoy, Claire Hogg, Eamonn Sheridan, Ronald Roepman, Dominic Norris, Hannah M Mitchison, Rachel H Giles, Colin A Johnson
DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain assembly and cilia motility, and DNAAF1 mutations cause primary ciliary dyskinesia (PCD; MIM 613193). We describe four families with DNAAF1 mutations and complex congenital heart disease (CHD). In three families, all affected individuals have typical PCD phenotypes. However, an additional family demonstrates isolated CHD (heterotaxy) in two affected siblings, but no clinical evidence of PCD. We identified a homozygous DNAAF1 missense mutation, p...
February 1, 2018: Human Molecular Genetics
Phillip S Adams, Maliha Zahid, Omar Khalifa, Brian Feingold, Cecilia W Lo
BACKGROUND: NO bioavailability has not been systematically examined in congenital heart disease (CHD). To assess NO in patients with CHD, we measured nasal NO (nNO) generated by the nasal epithelia, given blood NO is difficult to measure (half-life, <2 ms). Given NO's role in hemodynamic regulation and the association of NO bioavailability with heart failure risk, we hypothesized NO levels may differ with varying severity of CHD physiologic characteristics. METHODS AND RESULTS: Six-hundred eighteen subjects, 483 with CHD and 135 controls, had nNO measured noninvasively via the nares using American Thoracic Society/European Respiratory Society guidelines...
December 6, 2017: Journal of the American Heart Association
Xiaofang Wang, Yifan Shi, Shi Zeng, Jiawei Zhou, Jia Zhou, Hongxia Yuan, Lin Wang, Weiyuan Shi, Qichang Zhou
BACKGROUND: To investigate the differences in cardiovascular disease, extracardiac anomalies and outcomes between fetuses with levocardia and dextrocardia. METHODS: Clinical demographics, prenatal features, postnatal characteristics and the outcomes of fetuses with levocardia or dextrocardia were recorded and analyzed. RESULTS: Sixty-five fetuses with dextrocardia and thirty-eight fetuses with levocardia were enrolled. Right ventricle outlet obstruction, atrioventricular septal defect and intestinal malrotation were common in both groups...
November 23, 2017: BMC Pregnancy and Childbirth
Mary C Niu, Heather A Dickerson, Judson A Moore, Caridad de la Uz, Santiago O Valdés, Jeffrey J Kim, David E Bard, Shaine A Morris, Christina Y Miyake
BACKGROUND: Heterotaxy syndrome (HS) is a rare disorder with complex anatomy involving misarrangements of the cardiac conduction system. Arrhythmias may be related to anatomic variations and contribute to morbidity. OBJECTIVE: The purpose of this study was to investigate the associations between arrhythmias, anatomy, and outcomes in a large HS cohort. METHODS: A single-center retrospective review of patients ≤21 years of age diagnosed with HS was performed...
December 8, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Christine L van Velzen, Johannes C F Ket, Peter M van de Ven, Nico A Blom, Monique C Haak
BACKGROUND: The prenatal detection rate of congenital heart defects (CHDs) is increasing, but reported rates vary. OBJECTIVE: To determine the performance of the second-trimester anomaly scan to detect CHD. SEARCH STRATEGY: PubMed and Embase were searched for relevant studies in any language from inception to February 3, 2017. The search terms included "prenatal diagnosis" or "pregnancy," "cardiovascular diseases" or "cardiac defects," "congenital," and "specificity," or "sensitivity," or "cohort study...
November 2, 2017: International Journal of Gynaecology and Obstetrics
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"