Familial atrioventricular septal defect: possible genetic mechanism.

Digilio, M. Cristina; Marino, Bruno; Giannotti, Aldo; Dallapiccola, Bruno

doi:10.1136/hrt.72.3.301

Cited by 16 publications

(9 citation statements)

References 8 publications

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“…It is interesting to note that in our experience, recurrent CHD in the family was prevalently concordant [6]. In fact, our pedigrees showed vertical transmission of AVCD, including complete type, partial type and isolated cleft of the mitral valve, suggesting pathogenetic similarities between these cardiac malformations [6,7]. This pattern of recurrence indicates an autosomal-dominant mechanism with monogenic or oligogenic inheritance in selected pedigrees [3, 5-7, 16, 24, 33, 44, 48].…”

Section: Atrioventricular Canal Defectmentioning

confidence: 91%

Familial recurrence of congenital heart disease: an overview and review of the literature

Calcagni

Digilio

Sárközy³

et al. 2006

Eur J Pediatr

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Familial recurrence is one of the classic patterns for the clinical presentation of congenital heart disease (CHD). In recent years, many groups studied empiric recurrence risk in these heart defects, and the aim of this review was to analyse the patterns of inheritance detected in different types of CHD, including atrioventricular canal defect, tetralogy of Fallot, transposition of the great arteries, left-sided obstructions and atrial septal defect. These studies may influence clinical practise guidelines through accurate genetic counselling, but also, they may have important implications in the knowledge of genetic and pathogenetic mechanisms of CHD.

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Section: Atrioventricular Canal Defectmentioning

confidence: 91%

Familial recurrence of congenital heart disease: an overview and review of the literature

Calcagni

Digilio

Sárközy³

et al. 2006

Eur J Pediatr

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“…Endocardial cushion defects in DS have been extensively and largely described in previous studies from our group and others (Calcagni et al, 2017; Digilio, Marino, Giannotti, & Dallapiccola, 1994; Evans, Dharmar, Meierhenry, Marcin, & Raff, 2014; Fudge et al, 2010), whereas atypical CHDs have been studied less thoroughly. This is the first single‐center report discussing the phenotypic spectrum, management and long‐term survival of atypical CHDs in DS compared to typical CHDs and literature data.…”

Section: Discussionmentioning

confidence: 74%

“…The high prevalence of DS in subjects with isolated mitral cleft (29 out of 90 patients) reported by Zhu, Bryant, Heinle, and Nihill (2009) may suggest a possible pathogenetic connection to endocardial cushion defects (Digilio et al, 1994), though anatomical differences between isolated mitral cleft and “clefts” associated with AVSDs have been extensively described (Anderson, Zuberbuhler, Penkoske, & Neches, 1985; Nii, 2015; Seguela, Brosset, & Acar, 2011; Van Praagh, Porras, Oppido, Geva, & Van Praagh, 2003). In our cohort, the prevalence of isolated mitral cleft was 4/614, 0.7%.…”

Section: Discussionmentioning

confidence: 95%

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect

Baban

Olivini

Cantarutti

et al. 2020

American J of Med Genetics Pt A

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Morbidity and mortality in Down syndrome (DS) are mainly related to congenital heart defects (CHDs). While CHDs with high prevalence in DS (typical CHDs), such as endocardial cushion defects, have been extensively described, little is known about the impact of less common CHDs (atypical CHDs), such as aortic coarctation and univentricular hearts. In our single-center study, we analyzed, in observational, retrospective manner, data regarding cardiac features, surgical management, and outcomes of a cohort of DS patients. Literature review was performed to investigate previously reported studies on atypical CHDs in DS. Patients with CHDs were subclassified as having typical or atypical CHDs. Statistical analysis was performed for comparison between the groups. The study population encompassed 859 DS patients, 72.2% with CHDs, of which 4.7% were atypical. Statistical analysis showed a significant excess in multiple surgeries, all-cause mortality and cardiac mortality in patients with atypical CHDs (p = .0067, p = .0038, p = .0001, respectively). According to the Kaplan-Meier method, survival at 10 and 40 years was significantly higher in typical CHDs (99 and 98% vs. 91 and 84%, log rank <0.05). Among atypical CHDs, it seems that particularly multiple complex defects in univentricular physiology associate with a worse outcome. This may be due to the surgical difficulty in managing univentricular hearts with multiple defects concurring to the clinical picture or to the severity of associated defects themselves. Further studies need to address this specific issue, also considering the higher pulmonary pressures, infective complications, and potential comorbidities in DS patients. K E Y W O R D S atrioventricular septal defects, congenital heart defects, Down syndrome, left-sided congenital heart defects, univentricular physiology

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“…6,8,[11][12][13] In cardiac classification, the focus was to the spectrum of AVCDs, and the other cardiovascular anomalies were considered as secondary diagnosis. Mutations found in the present series of patients with AVCD/related defects and in published series of AVCD were reviewed and analysed for possible genotype-phenotype correlations.…”

Section: Methodsmentioning

confidence: 99%

“…Cleft mitral valve is considered the less severe form of AVCD. [8][9][10][11][12][13] A defect of the extracellular matrix has been considered a likely pathogenic mechanism for the defects in the spectrum of AVCD. 14,15 AVCD is also the most common CHD found in children with Down syndrome and one of the structural heart defects most frequently associated with extracardiac anomalies in the setting of chromosomal and mendelian disorders.…”

Section: Introductionmentioning

confidence: 99%