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2019 2
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102 results

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Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
Bolkier Y, Barel O, Marek-Yagel D, Atias-Varon D, Kagan M, Vardi A, Mishali D, Katz U, Salem Y, Tirosh-Wagner T, Jacobson JM, Raas-Rothschild A, Chorin O, Eliyahu A, Sarouf Y, Shlomovitz O, Veber A, Shalva N, Javasky E, Ben Moshe Y, Staretz-Chacham O, Rechavi G, Mane S, Anikster Y, Vivante A, Pode-Shakked B. Bolkier Y, et al. J Med Genet. 2022 Jul;59(7):691-696. doi: 10.1136/jmedgenet-2021-107775. Epub 2021 Jul 2. J Med Genet. 2022. PMID: 34215651
BACKGROUND: The molecular basis of heterotaxy and congenital heart malformations associated with disruption of left-right asymmetry is broad and heterogenous, with over 25 genes implicated in its pathogenesis thus far. ...Additionally, we detected a homozygous disease caus …
BACKGROUND: The molecular basis of heterotaxy and congenital heart malformations associated with disruption of left-right asymmetry i …
Heterotaxy syndrome: Prenatal diagnosis, concomitant malformations and outcomes.
Akalın M, Demirci O, Kumru P, Yücel İK. Akalın M, et al. Prenat Diagn. 2022 Apr;42(4):435-446. doi: 10.1002/pd.6110. Epub 2022 Feb 4. Prenat Diagn. 2022. PMID: 35102577
OBJECTIVE: The aim of this study is to define cardiac and extracardiac malformations in fetuses with heterotaxy syndrome and to determine perinatal and childhood prognosis. ...Fetuses with heterotaxy syndrome were grouped as right atrial isomerism (RAI) and left atr …
OBJECTIVE: The aim of this study is to define cardiac and extracardiac malformations in fetuses with heterotaxy syndrome and to deter …
Whither heterotaxy?
Anderson RH, Spicer DE, Loomba RS, Tretter JT. Anderson RH, et al. Cardiol Young. 2021 Jul;31(7):1197-1199. doi: 10.1017/S1047951121002821. Cardiol Young. 2021. PMID: 34323209 No abstract available.
Human Laterality Disorders: Pathogenesis, Clinical Manifestations, Diagnosis, and Management.
Soofi M, Alpert MA, Barbadora J, Mukerji B, Mukerji V. Soofi M, et al. Am J Med Sci. 2021 Sep;362(3):233-242. doi: 10.1016/j.amjms.2021.05.020. Epub 2021 May 28. Am J Med Sci. 2021. PMID: 34052215 Review.
Situs inversus totalis is mirror image reversal of thoraco-abdominal organs/great vessels. Situs ambiguus, better known as heterotaxy, is abnormal arrangement of thoraco-abdominal organs across the left-right axis excluding situs inversus totali …
Situs inversus totalis is mirror image reversal of thoraco-abdominal organs/great vessels. Situs ambiguus, better known …
Heterotaxy: fluctuat nec mergitur.
Houyel L, Moreau de Bellaing A, Bonnet D. Houyel L, et al. Cardiol Young. 2021 Jul;31(7):1200-1201. doi: 10.1017/S1047951121002961. Cardiol Young. 2021. PMID: 34323208
The International Pediatric and Congenital Cardiac Code (IPCCC) states that visceral heterotaxy is defined as "a congenital malformation in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. By convention, i …
The International Pediatric and Congenital Cardiac Code (IPCCC) states that visceral heterotaxy is defined as "a congenital malformat …
Clinical implications of airway anomalies and stenosis in patients with heterotaxy syndrome.
Wang CC, Wu MH, Wu ET, Lu F, Chen SJ. Wang CC, et al. Pediatr Pulmonol. 2022 Sep;57(9):2074-2081. doi: 10.1002/ppul.25981. Epub 2022 Jun 2. Pediatr Pulmonol. 2022. PMID: 35582940
In heterotaxy syndrome, bronchopulmonary situs usually reflects atrial situs, resulting in either right (RAI) or left atrial isomerism (LAI). This study determines airway anomalies and its implications in patients with heterotaxy. This retrospective st …
In heterotaxy syndrome, bronchopulmonary situs usually reflects atrial situs, resulting in either right (RAI) or left a …
The genetic landscape of cardiovascular left-right patterning defects.
Wells JR, Padua MB, Ware SM. Wells JR, et al. Curr Opin Genet Dev. 2022 Aug;75:101937. doi: 10.1016/j.gde.2022.101937. Epub 2022 Jun 28. Curr Opin Genet Dev. 2022. PMID: 35777348 Review.
Heterotaxy is a disorder with complex congenital heart defects and diverse left-right (LR) patterning defects in other organ systems. Despite evidence suggesting a strong genetic component in heterotaxy, the majority of molecular causes remain unknown. Established g …
Heterotaxy is a disorder with complex congenital heart defects and diverse left-right (LR) patterning defects in other organ systems. …
Perioperative outcomes of Fontan operation: Impact of heterotaxy syndrome.
Lin HC, Wu MH, Wang JK, Lin MT, Chen CA, Lu CW, Chen YS, Huang SC, Chiu SN. Lin HC, et al. J Formos Med Assoc. 2022 Jan;121(1 Pt 1):89-97. doi: 10.1016/j.jfma.2021.01.014. Epub 2021 Feb 3. J Formos Med Assoc. 2022. PMID: 33549407 Free article.
We aim to identify the perioperative outcomes and impact of heterotaxy syndrome (HS) after Fontan operation in a tertiary pediatric cardiology center. ...
We aim to identify the perioperative outcomes and impact of heterotaxy syndrome (HS) after Fontan operation in a tertiary pediatric c …
Post-operative Morbidity and Mortality After Fontan Procedure in Patients with Heterotaxy and Other Situs Anomalies.
Duong SQ, Zaniletti I, Lopez L, Sutherland SM, Shin AY, Collins RT 2nd. Duong SQ, et al. Pediatr Cardiol. 2022 Jun;43(5):952-959. doi: 10.1007/s00246-021-02804-w. Epub 2022 Jan 22. Pediatr Cardiol. 2022. PMID: 35064275
Heterotaxy is a complex, multisystem disorder associated with single ventricle heart disease and decreased survival. Ciliary dysfunction is common in heterotaxy and other situs abnormalities (H/SA) and may increase post-operative complications. ...
Heterotaxy is a complex, multisystem disorder associated with single ventricle heart disease and decreased survival. Ciliary dysfunct …
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.
Breuer K, Riedhammer KM, Müller N, Schaidinger B, Dombrowsky G, Dittrich S, Zeidler S, Bauer UMM, Westphal DS, Meitinger T, Dakal TC, Hitz MP, Breuer J, Reutter H, Hilger AC, Hoefele J. Breuer K, et al. Eur J Hum Genet. 2022 Aug;30(8):946-954. doi: 10.1038/s41431-022-01100-2. Epub 2022 Apr 26. Eur J Hum Genet. 2022. PMID: 35474353 Free PMC article.
The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes ranging from situs inversus totalis to heterotaxy, mostly associated with complex congenital heart defects (CHD) and situs abnormalities such as intestinal malrotat …
The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes ranging from situs inversus totalis to …
102 results