Human Heterotaxy Syndrome

Shiraishi, Isao; Ichikawa, Hajime

doi:10.1253/circj.cj-12-0957

Cited by 113 publications

(76 citation statements)

References 106 publications

(72 reference statements)

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“…Surgical interventions are typically palliative, considering that a normal anatomy is rarely achieved. Factors that increase operative risk have been described as: complications with pulmonary venous obstruction (PVO), pulmonary arterial distortion, atrioventricular valve regurgitation (AVVR), elevated pulmonary vascular resistance and impaired ventricular function [4,5,6]. The purpose of this study was to evaluate the early- and mid-term results following surgery in patients with heterotaxy syndrome.…”

Section: Introductionmentioning

confidence: 99%

Early- and Middle-Term Surgical Outcomes in Patients with Heterotaxy Syndrome

Chen

Ma²,

Cui³

et al. 2015

Cardiology

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Objectives: Heterotaxy syndrome is a recognized risk factor for surgical cardiac interventions. We evaluated the early- and middle-term results of a surgical intervention for patients with heterotaxy syndrome. Methods: A total of 42 patients with heterotaxy syndrome were enrolled (September 2008 to March 2015). Left and right atrial isomerism were identified in 26% (11 out of 42) and 74% of patients (31 out of 42), respectively. The median age of the patients at the time of surgery was 6.8 months (range: 5 days to 22.3 years). Biventricular repair was completed in 3 patients with left atrial isomerism. Seventeen out of 39 patients who were scheduled for single ventricular repair completed a modified Fontan procedure. Results: The hospital mortality rate was 4.7% (2 out of 42). Another 5 deaths occurred in the remaining survivors following hospital discharge with a follow-up duration of 45.8 ± 23.6 months (range: 13-111 months). The 1-year and 5-year survival rates were 88.1% (37/42) and 83.3% (35/42), respectively. Univariate analysis and multivariate analysis identified pulmonary venous obstruction and atrioventricular valve replacement as additional risk factors for mortality. Conclusions: Right ventricular bypass surgery remains the preferred palliative procedure for patients with heterotaxy syndrome. Based on the current results, the early- and middle-term outcomes are satisfactory.

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Section: Introductionmentioning

confidence: 99%

Early- and Middle-Term Surgical Outcomes in Patients with Heterotaxy Syndrome

Chen

Ma²,

Cui³

et al. 2015

Cardiology

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“…The consequences of aberrations to proper L-R patterning can be severe. Heterotaxy (see Glossary) is a heritable disorder present in approximately 1 in 10,000 births and is characterized by randomization of body situs ( situs ambiguous ) [1]. Notably, the incidence of congenital heart disease (CHD) is significantly increased in heterotaxy patients; transposition of the great arteries and ventricular septal defects are particularly prevalent [2].…”

Section: Left-right Asymmetry In Vertebrates: Development and Diseasementioning

confidence: 99%

“…Notably, the incidence of congenital heart disease (CHD) is significantly increased in heterotaxy patients; transposition of the great arteries and ventricular septal defects are particularly prevalent [2]. Extracardiac malformations including multiple spleens (polysplenia), a midline liver, and extrahepatic biliary atresia may also present in heterotaxy patients [1]. In addition to being a complex genetic condition, model organism studies suggest that abnormalities of L-R patterning can also be induced by environmental factors [3].…”

Section: Left-right Asymmetry In Vertebrates: Development and Diseasementioning

confidence: 99%

Left–Right Patterning: Breaking Symmetry to Asymmetric Morphogenesis

2017

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Vertebrates exhibit striking left-right (L-R) asymmetries in the structure and position of the internal organs. Symmetry is broken by motile cilia-generated asymmetric fluid flow, resulting in a signaling cascade — the Nodal-Pitx2 pathway — being robustly established within mesodermal tissue on the left side only. This pathway impinges upon various organ primordia to instruct their side-specific development. Recently, progress has been made in understanding both the breaking of embryonic L-R symmetry and how the Nodal-Pitx2 pathway controls lateralized cell differentiation, migration, and other aspects of cell behavior, as well as tissue-level mechanisms, that drive asymmetries in organ formation. Proper execution of asymmetric organogenesis is critical to health, making furthering our understanding of L-R development an important concern.

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“…During vertebrate embryogenesis, the cardiovascular system, the organs of the chest and abdomen, and even the brain, develop morphological and/or functional asymmetries (Aizawa, 2013; Burn and Hill, 2009; Franco et al, 2014; Perloff, 2011; Roussigne et al, 2012). Developmental defects in laterality specification and asymmetric morphogenesis are sometimes compatible with embryogenesis, and occasionally, fully mirror-image individuals develop to term (Bartram et al, 2005; Peeters and Devriendt, 2006; Shiraishi and Ichikawa, 2012; Sutherland and Ware, 2009). Left-right (L-R) defects are often much less pervasive and usually strike organs at random, resulting in severe visceral misalignment, organ malformations and malfunctions (Burdine and Caspary, 2013; Hirokawa et al, 2012; Yoshiba and Hamada, 2014).…”

Section: Introductionmentioning

confidence: 99%

Symmetry breakage in the vertebrate embryo: When does it happen and how does it work?

Blum

Schweickert

Vick

et al. 2014

Developmental Biology

105

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Asymmetric development of the vertebrate embryo has fascinated embryologists for over a century. Much has been learned since the asymmetric Nodal signaling cascade in the left lateral plate mesoderm was detected, and began to be unraveled over the past decade or two. When and how symmetry is initially broken, however, has remained a matter of debate. Two essentially mutually exclusive models prevail. Cilia-driven leftward flow of extracellular fluids occurs in mammalian, fish and amphibian embryos. A great deal of experimental evidence indicates that this flow is indeed required for symmetry breaking. An alternative model has argued, however, that flow simply acts as an amplification step for early asymmetric cues generated by ion flux during the first cleavage divisions. In this review we critically evaluate the experimental basis of both models. Although a number of open questions persist, the available evidence is best compatible with flow-based symmetry breakage as the archetypical mode of symmetry breakage.

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Human Heterotaxy Syndrome

Cited by 113 publications

References 106 publications

Early- and Middle-Term Surgical Outcomes in Patients with Heterotaxy Syndrome

Early- and Middle-Term Surgical Outcomes in Patients with Heterotaxy Syndrome

Left–Right Patterning: Breaking Symmetry to Asymmetric Morphogenesis

Symmetry breakage in the vertebrate embryo: When does it happen and how does it work?

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