<i>FOX</i>gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease

Laux, Daniéla; Malan, Valérie; Bajolle, Fanny; Boudjemline, Younès; Amiel, Jeanne; Bonnet, Damien

doi:10.1017/s1047951112001904

Cited by 12 publications

(7 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Alveolar capillary dysplasia is a congenital pulmonary vascular abnormality, often associated with misalignment of the pulmonary vessels. The disease is associated with CHD in about 10% of the cases, prevalently consisting in partial or complete AVCD and various degrees of left heart obstruction (small left ventricle with or without aortic coarctation) [79].…”

Section: Alveolar Capillary Dysplasiamentioning

confidence: 99%

Genetics of atrioventricular canal defects

et al. 2020

View full text Add to dashboard Cite

Atrioventricular canal defect (AVCD) represents a quite common congenital heart defect (CHD) accounting for 7.4% of all cardiac malformations. AVCD is a very heterogeneous malformation that can occur as a phenotypical cardiac aspect in the context of different genetic syndromes but also as an isolated, non-syndromic cardiac defect. AVCD has also been described in several pedigrees suggesting a pattern of familiar recurrence. Targeted Next Generation Sequencing (NGS) techniques are proved to be a powerful tool to establish the molecular heterogeneity of AVCD. Given the complexity of cardiac embryology, it is not surprising that multiple genes deeply implicated in cardiogenesis have been described mutated in patients with AVCD. This review attempts to examine the recent advances in understanding the molecular basis of this complex CHD in the setting of genetic syndromes or in nonsyndromic patients.

show abstract

Section: Alveolar Capillary Dysplasiamentioning

confidence: 99%

Genetics of atrioventricular canal defects

et al. 2020

View full text Add to dashboard Cite

show abstract

“…In about 10% of cases, alveolar capillary dysplasia is associated with CHD, in particular, partial or complete AVCD and various degrees of left heart obstruction. 89 AVCD in these cases may consist in a small left ventricle with or without aortic coarctation.…”

Section: Alveolar Capillary Dysplasia With Misaligned Pulmonary Veinsmentioning

confidence: 99%

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

et al. 2018

View full text Add to dashboard Cite

The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex previously associated with functional cilia abnormalities and aberrant Hedgehog (Hh) signaling. Hh signaling coordinates multiple aspects of left-right lateralization and cardiovascular growth. Being active at the venous pole the secondary heart field (SHF) is essential for normal development of dorsal mesenchymal protrusion and AVCD formation and septation. Experimental data show that perturbations of different components of the Hh pathway can lead to developmental errors presenting with partially overlapping manifestations and AVCD as a common denominator. We review the potential role of Hh signaling in the pathogenesis of AVCD in different genetic disorders. AVCD can be viewed as part of a "developmental field," according to the concept that malformations can be due to defects in signal transduction cascades or pathways, as morphogenetic units which may be altered by Mendelian mutations, aneuploidies, and environmental causes.

show abstract

“…Four patients presented a cardiac malformation as described in the literature 23–26. In our series, a patient presents a total anomalous pulmonary venous connection.…”

Section: Discussionmentioning

confidence: 65%

Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study

Jourdan-Voyen

Touraine

Masutti

et al. 2019

Arch Dis Child Fetal Neonatal Ed

View full text Add to dashboard Cite

ObjectiveAlveolar capillary dysplasia (ACD) is one of the causes of pulmonary hypertension. Its diagnosis is histological but new pathogenetic data have emerged. The aim of this study was to describe a French cohort of patients with ACD to improve the comprehension and the diagnosis of this pathology which is probably underdiagnosed.MethodsA retrospective observational study was conducted in French hospitals. Patients born between 2005 and 2017, whose biological samples were sent to the French genetic reference centres, were included. Clinical, histological and genetic data were retrospectively collected.ResultsWe presented a series of 21 patients. The mean of postmenstrual age at birth was 37.6 weeks. The first symptoms appeared on the median of 2.5 hours. Pulmonary hypertension was diagnosed in 20 patients out of 21. Two cases had prolonged survival (3.3 and 14 months). Histological analysis was done on lung tissue from autopsy (57.1% of cases) or from percutaneous biopsy (28.6%). FOXF1 was found abnormal in 15 patients (71.4%): 8 deletions and 7 point mutations. Two deletions were found by chromosomal microarray.ConclusionThis study is one of the largest clinically described series in literature. It seems crucial to integrate genetics early into diagnostic support. We propose a diagnostic algorithm for helping medical teams to improve diagnosis of this pathology.

show abstract

FOXgene cluster defects in alveolar capillary dysplasia associated with congenital heart disease

Cited by 12 publications

References 24 publications

Genetics of atrioventricular canal defects

Genetics of atrioventricular canal defects

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study

Contact Info

Product

Resources

About