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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
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 Cardiol Sin
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
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
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
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
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
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
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
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
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
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
Angela E Scheuerle, Arthur S Aylsworth
BACKGROUND: Pharmaceutical pregnancy exposure registries seek to evaluate temporal associations between drug exposures and adverse outcomes, particularly congenital anomalies. These registries record observed associations that may or may not be causally-related to the exposure. Most major congenital malformations (i.e., structural birth defects) result from abnormal development during embryogenesis. A standardized catalog of defects of concern (colloquially the "BPA Codes") is used both in public health surveillance programs and pregnancy exposure registries...
August 11, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Daniel Kelly, Neil Johnson, Grushen Veldtman, Samuel Kocoshis, Rohit Kohli
No abstract text is available yet for this article.
August 6, 2016: Journal of Pediatric Gastroenterology and Nutrition
Rohit S Loomba, Gabrielle C Geddes, Donald Basel, Dudley W Benson, Steven R Leuthner, David A Hehir, Nancy Ghanayem, Amanda J Shillingford
Heterotaxy (HTX) is a laterality defect resulting in abnormal arrangement of the thoracic and abdominal organs across the right-left axis, and is associated with multiple anatomic and physiologic disruptions. HTX often occurs in association with complex congenital heart disease. Splenic abnormalities are also common and convey an increased risk of bacteremia (bacteremia) with a high associated mortality. We performed a systematic review of the literature studying the risk of infection in HTX patients and strategies that can be utilized to prevent such infections...
July 18, 2016: Congenital Heart Disease
Patrice Bouvagnet, Anne Guimier, Jeanne Amiel, Christopher T Gordon
No abstract text is available yet for this article.
June 2016: Médecine Sciences: M/S
Aimee D C Paulussen, Anja Steyls, Jo Vanoevelen, Florence Hj van Tienen, Ingrid P C Krapels, Godelieve Rf Claes, Sonja Chocron, Crool Velter, Gita M Tan-Sindhunata, Catarina Lundin, Irene Valenzuela, Balint Nagy, Iben Bache, Lisa Leth Maroun, Kristiina Avela, Han G Brunner, Hubert J M Smeets, Jeroen Bakkers, Arthur van den Wijngaard
Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients with abnormal arrangement of thoracic and visceral organs. Several reports have shown relevance of ZIC3 gene variants in both familial and sporadic cases and with a predominance of mutations detected in zinc-finger domains. No studies so far have assessed the functional consequences of ZIC3 variants in an in vivo model organism. A study population of 348 patients collected over more than 10 years with a large variety of congenital heart disease including heterotaxy was screened for variants in the ZIC3 gene...
July 13, 2016: European Journal of Human Genetics: EJHG
Sowmya Balasubramanian, Alaina K Kipps, Shea N Smith, Theresa A Tacy, Elif Seda Selamet Tierney
BACKGROUND: Present resource-based relative value unit (RVU) assignment for echocardiography is based on Current Procedural Terminology (CPT) codes, which do not incorporate complexity of diagnosis, time spent for image acquisition, or interpretation of echocardiograms. The objective of this study was to determine whether CPT-based RVU assignment accurately reflects physician effort in performing and interpreting pediatric echocardiographic examinations. METHODS: Cardiac complexity category (CCC) and physician time for study interpretation of 123 echocardiograms (June to September 2013) were prospectively assigned...
July 9, 2016: Journal of the American Society of Echocardiography
Juan Carlos Pelayo, Andrea Lo
Intestinal rotation abnormality (IRA) predisposes to lethal midgut volvulus. An understanding of intestinal development illustrates the process of normal intestinal rotation and fixation. An appreciation of the clinical presentation and consequences of missed IRA will enhance clinical suspicion and timely evaluation. Selecting the appropriate imaging modality to diagnose IRA requires an understanding of the benefits and limitations of each. The Ladd's procedure continues to be the appropriate surgical treatment for IRA with or without volvulus...
July 1, 2016: Pediatric Annals
Bari Murtuza, Antony Hermuzi, David S Crossland, Gareth Parry, Stephen Lord, Mark Hudson, Milind P Chaudhari, Simon Haynes, John J O'Sullivan, Asif Hasan
OBJECTIVES: Adults with failing Fontan circulation (FFC) represent a heterogeneous, high-risk group for cardiac transplantation with poor reported outcomes. We studied the impact of mode of Fontan failure (preserved versus impaired systolic ventricular function) and end-organ dysfunction on early survival in adults undergoing cardiac transplantation for FFC. METHODS: A single-centre, retrospective study of 26 adults (≥16 years) with FFC undergoing cardiac transplantation between 1990 and 2015...
July 11, 2016: European Journal of Cardio-thoracic Surgery
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