Prenatal diagnosis of left atrial isomerism

Pepes, Spyridon; Zidere, Vita; Allan, Lindsey D.

doi:10.1136/hrt.2009.165514

Cited by 65 publications

(71 citation statements)

References 29 publications

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“…Our results support the previously published data that pulmonary vein stenosis and noncardiac anomalies strongly affect the survival for HS patients. 3,4,8,10,12,13,28 In our cohort, only 5 patients with TAPVC are still alive, all of them <2 years. Therefore, for ASP patients with TAPVC, prenatal counseling should describe the potential for pulmonary vein stenosis.…”

Section: Discussionmentioning

confidence: 77%

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Perinatal and Infant Outcomes of Prenatal Diagnosis of Heterotaxy Syndrome (Asplenia and Polysplenia)

Escobar‐Diaz

Friedman

Salem

et al. 2014

The American Journal of Cardiology

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Patients with heterotaxy syndrome (HS) have a range of anomalies and outcomes. There are limited data on perinatal outcomes after prenatal diagnosis. To determine the factors influencing perinatal and infant outcomes, we analyzed prenatal and postnatal variables in fetuses with HS from 1995 to 2011. Of 154 fetuses with HS, 61 (40%) had asplenia syndrome (ASP) and 93 (60%) had polysplenia syndrome (PSP). In the ASP group, 22 (36%) patients were elected for termination of pregnancy, 4 (10%) had fetal death, and 35 of 39 (90%) continued pregnancies were live born. In the PSP group, 12 (13%) patients were elected for termination of pregnancy, 5 (6%) had fetal death (4 with bradyarrhythmia), and 76 of 81 (94%) continued pregnancies were live born. Bradyarrhythmia was the only predictor of fetal death. In the live-born ASP group, 43% (15 of 35) died, 7 because of pulmonary vein stenosis, 4 postoperatively, and 4 because of noncardiac causes. In the live-born PSP group, 13% (10 of 76) died, 5 postoperatively, 2 from bradyarrhythmia, 1 from a cardiac event, and 2 from noncardiac causes. Pulmonary vein stenosis and noncardiac anomalies were independent risk factors for postnatal death. Only 8% of ASP patients achieved biventricular circulation, compared with 65% of PSP patients. In the live-born cohort, the 5-year survival rate was 53% for ASP and 86% for PSP. In conclusion, most PSP patients are currently alive with biventricular circulation in contrast with few ASP patients. Bradyarrhythmia was the only predictor of fetal death. Pulmonary vein stenosis and noncardiac anomalies were predictors of postnatal death.

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Section: Discussionmentioning

confidence: 77%

“…21 Importantly, atrial bradycardia or AV block are common in PSP patients and likely contribute to fetal death and overall morbidity. 12,13,17,18,22,23 …”

Section: Discussionmentioning

confidence: 99%

Perinatal and Infant Outcomes of Prenatal Diagnosis of Heterotaxy Syndrome (Asplenia and Polysplenia)

Escobar‐Diaz

Friedman

Salem

et al. 2014

The American Journal of Cardiology

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“…Consistent with this, we observed a marked thinning of the LV chamber wall in the heterotaxy mutants that would suggest poor contractility. It should be noted that although atrioventricular block is quite often present in clinical cases of heterotaxy syndromes and almost always due to left atrial isomerism (20), this is not likely to be a major cause of fetal demise in the Dnaic1 mutants, since only four out of the 34 mutant fetuses analyzed were found to have atrial isomerism (Table 1). It is interesting to note that the hypoplastic transverse arch and interrupted aortic arch phenotypes seen in the Dnaic1 mutants closely matched the phenotype of the Tgf␤ 2 KO mice (16).…”

Section: Discussionmentioning

confidence: 96%

Congenital heart disease and the specification of left-right asymmetry

Francis

Christopher

Devine

et al. 2012

American Journal of Physiology-Heart and Circulatory Physiology

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Complex congenital heart disease (CHD) is often seen in conjunction with heterotaxy, the randomization of left-right visceral organ situs. However, the link between cardiovascular morphogenesis and left-right patterning is not well understood. To elucidate the role of left-right patterning in cardiovascular development, we examined situs anomalies and CHD in mice with a loss of function allele of Dnaic1, a dynein protein required for motile cilia function and left-right patterning. Dnaic1 mutants were found to have nodal cilia required for left-right patterning, but they were immotile. Half the mutants had concordant organ situs comprising situs solitus or mirror symmetric situs inversus. The remaining half had randomized organ situs or heterotaxy. Looping of the heart tube, the first anatomical lateralization, showed abnormal L-loop bias rather than the expected D-loop orientation in heterotaxy and nonheterotaxy mutants. Situs solitus/inversus mutants were viable with mild or no defects consisting of azygos continuation and/or ventricular septal defects, whereas all heterotaxy mutants had complex CHD. In heterotaxy mutants, but not situs solitus/inversus mutants, the morphological left ventricle was thin and often associated with a hypoplastic transverse aortic arch. Thus, in conclusion, Dnaic1 mutants can achieve situs solitus or inversus even with immotile nodal cilia. However, the finding of abnormal L-loop bias in heterotaxy and nonheterotaxy mutants would suggest motile cilia are required for normal heart looping. Based on these findings, we propose motile nodal cilia patterns heart looping but heart and visceral organ lateralization is driven by signaling not requiring nodal cilia motility.

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“…La incidencia de alteraciones cromosómicas en los casos fallecidos del grupo B fue del 29%; en otras series, osciló entre el 28% y el 66%. [3][4][5][6][12][13][14][15] Coincidimos con la mayoría de los grupos en que las anomalías asociadas a CC con mayor frecuencia son las del SNC; en nuestra serie, fue más frecuente la agenesia del cuerpo calloso, pero en otros estudios la anencefalia, la hidrocefalia …”

Section: Discussionunclassified

Mortalidad fetal y neonatal en pacientes con cardiopatías congénitas aisladas y asociadas a anomalías extracardíacas

Marantz¹

2013

Arch Argent Pediat

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Prenatal diagnosis of left atrial isomerism

Cited by 65 publications

References 29 publications

Perinatal and Infant Outcomes of Prenatal Diagnosis of Heterotaxy Syndrome (Asplenia and Polysplenia)

Perinatal and Infant Outcomes of Prenatal Diagnosis of Heterotaxy Syndrome (Asplenia and Polysplenia)

Congenital heart disease and the specification of left-right asymmetry

Mortalidad fetal y neonatal en pacientes con cardiopatías congénitas aisladas y asociadas a anomalías extracardíacas

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