Some Isolated Cardiac Malformations Can Be Related to Laterality Defects

Versacci, Paolo; Pugnaloni, Flaminia; Digilio, María Cristina; Putotto, Carolina; Unolt, Marta; Calcagni, Giulio; Baban, Anwar; Marino, Bruno

doi:10.3390/jcdd5020024

Cited by 21 publications

(19 citation statements)

References 178 publications

(217 reference statements)

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“…[4][5][6][7][8][9][10][11] Recently, new hypotheses have been proposed on the development of atrial septum based on the experimental data. 12,13 Goddeeris et al 12 used a genetic marker and novel magnetic resonance microscopy technique to demonstrate the origins of the dorsal mesenchymal protrusion in the dorsal mesocardium, and its valuable contribution to atrioventricular septation. They showed that sonic hedgehog signalling is required within the dorsal mesocardium for its contribution to the atria.…”

Section: Discussionmentioning

confidence: 99%

A rare cause of abnormal pulmonary venous drainage: septum primum malposition

et al. 2020

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Objectives: This study aimed to evaluate the clinical features of patients with septum primum malposition, imaging tools used for diagnosis, and their effects on the surgical approach. Materials and methods: Patients diagnosed with septum primum malposition in our paediatric cardiac centre between 1 January, 2015 and 1 January, 2019 were included in the study. In all patients, the age, reason for admission, transthoracic echocardiography, cardiac multidetector CT angiography findings, and subsequent surgical data were evaluated. Results: Fifteen patients were diagnosed with septum primum malposition during the study period. The median age was 12 months (2 months–10 years). Six patients were left isomeric, and the rest were situs solitus; 80% of the patients (n = 12) had additional secundum atrial septal defect. There was cardiac pathology in 46% of the patients (n = 7) in addition to the abnormal pulmonary venous drainage, ventricular septal defect (n = 3), left ventricularhypoplasia (n = 2), cortriatriatum sinister (n = 2), double outlet right ventricle (n = 1), and atrioventricular septal defect (n = 1). There was bilateral superior caval vein in three patients, right-sided superior caval vein in 11 patients, and left-sided superior caval vein in one patient. All three patients with total abnormal pulmonary venous drainage were left atrial isomeric. There were differences between the results of transthoracic echocardiography and CT angiographies in two patients. The surgical strategy was changed in three patients after the preoperative diagnosis of septum primum malposition. Conclusion: Septum primum malposition should be kept in mind during the imaging of complex CHDs specifically during the segmental analysis of the pathologies with heterotaxy syndromes; it should be differentiated from other aetiologies of abnormal pulmonary venous drainage as accurate diagnosis would facilitate the ideal surgery in these complex pathologies requiring a detailed preoperative preparation.

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Section: Discussionmentioning

confidence: 99%

A rare cause of abnormal pulmonary venous drainage: septum primum malposition

et al. 2020

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“…There is evidence that mutations in cilia genes are also involved in isolated CHD-especially AVSDs and D-transposition of the great arteries (D-TGA) (Versacci et al 2018). In patients with CHD but no HTX, there is a high incidence of ciliary motion defects-up to 51% in one study (Garrod et al 2014).…”

Section: Heterotaxy and Ciliopathiesmentioning

confidence: 99%

Genetic Basis of Human Congenital Heart Disease

Nees¹,

Chung

2019

Cold Spring Harb Perspect Biol

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Congenital heart disease (CHD) is the most common major congenital anomaly with an incidence of ∼1% of live births and is a significant cause of birth defect-related mortality. The genetic mechanisms underlying the development of CHD are complex and remain incompletely understood. Known genetic causes include all classes of genetic variation including chromosomal aneuploidies, copy number variants, and rare and common singlenucleotide variants, which can be either de novo or inherited. Among patients with CHD, ∼8%-12% have a chromosomal abnormality or aneuploidy, between 3% and 25% have a copy number variation, and 3%-5% have a single-gene defect in an established CHD gene with higher likelihood of identifying a genetic cause in patients with nonisolated CHD. These genetic variants disrupt or alter genes that play an important role in normal cardiac development and in some cases have pleiotropic effects on other organs. This work reviews some of the most common genetic causes of CHD as well as what is currently known about the underlying mechanisms. C ongenital heart disease (CHD) is the most common major congenital anomaly with an incidence of ∼1% of live births (Hoffman and Kaplan 2002; Calzolari et al. 2003). CHD is a significant cause of birth defect-related mortality (

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“…Abnormal ciliary structure or function is associated with syndromic ciliopathies which include primary ciliary dyskinesia (PCD) and HTX, both of which are associated with CHD (Sutherland & Ware, ). However, there is evidence that mutations in cilia genes are also involved in isolated CHD, especially atrioventricular septal defects and D‐TGA (Versacci et al, ). In patients with CHD but no HTX, there is a high incidence of ciliary motion defects, up to 51% in one study (Garrod et al, ).…”

Section: Monogenic Causes Of Isolated Chdmentioning

confidence: 99%

“…However, there is evidence that mutations in cilia genes are also involved in isolated CHD, especially atrioventricular septal defects and D-TGA (Versacci et al, 2018). In patients with CHD but no HTX, there is a high incidence of ciliary motion defects, up to 51% in one study (Garrod et al, 2014).…”

Section: Heterotaxy and Ciliopathiesmentioning

confidence: 99%

The genetics of isolated congenital heart disease

Nees

Chung

2019

American J of Med Genetics Pt C

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The genetic mechanisms underlying congenital heart disease (CHD) are complex and remain incompletely understood. The majority of patients with CHD have an isolated heart defect without other organ system involvement, but the genetic basis of isolated CHD has been even more difficult to elucidate compared to syndromic CHD. Our understanding of the genetics of isolated CHD is advancing in large part due to advances in next generation sequencing, and the list of genes associated with CHD is rapidly expanding. Variants in hundreds of genes have been identified that may cause or contribute to CHD, but a genetic cause can still only be identified in about 20–30% of patients. Identifying a genetic cause for CHD can have an impact on clinical outcomes and prognosis and thus it is important for clinicians to understand when and what to test in patients with isolated CHD. This chapter reviews some of the known genetic mechanisms that contribute to isolated inherited and sporadic CHD as well as recommendations for evaluation and genetic testing in patients with isolated CHD.

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Some Isolated Cardiac Malformations Can Be Related to Laterality Defects

Cited by 21 publications

References 178 publications

A rare cause of abnormal pulmonary venous drainage: septum primum malposition

A rare cause of abnormal pulmonary venous drainage: septum primum malposition

Genetic Basis of Human Congenital Heart Disease

The genetics of isolated congenital heart disease

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