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Never too Grown-Up for a Congenital Heart Disease: Diagnosis of Transitional Atrioventricular Canal in a 50-Year-Old Male.

ABSTRACT: Transitional atrioventricular (AV) septal defects are uncommon congenital heart defects, and diagnosis is usually made in childhood. We present the case of intermediate AV canal diagnosed in a man referring to cardiological examination for the first time in his life at the age of fifty for exertional dyspnea. The absence of medical examination or execution of electrocardiogram or echocardiogram in childhood or in youth and the very late appearance of symptoms lead to a late diagnosis of this congenital heart disease (CHD). This case underlines the importance of including CHD in the differential diagnosis of symptoms such as chronic dyspnea, also in adulthood.

SUBMITTER: De Angelis F

PROVIDER: S-EPMC6450236 | biostudies-literature | 2019 Jan-Mar

REPOSITORIES: biostudies-literature

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Never too Grown-Up for a Congenital Heart Disease: Diagnosis of Transitional Atrioventricular Canal in a 50-Year-Old Male.

De Angelis Francesca F Savino Ketty K Colombo Alessandro A Sardone Mariagrazia M Ambrosio Giuseppe G

Journal of cardiovascular echography 20190101 1

Transitional atrioventricular (AV) septal defects are uncommon congenital heart defects, and diagnosis is usually made in childhood. We present the case of intermediate AV canal diagnosed in a man referring to cardiological examination for the first time in his life at the age of fifty for exertional dyspnea. The absence of medical examination or execution of electrocardiogram or echocardiogram in childhood or in youth and the very late appearance of symptoms lead to a late diagnosis of this con ...[more]

PMID: 31008039

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Partial and transitional atrioventricular septal defect outcomes.

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Atrioventricular canal defect in patients with RASopathies.

Project description:Congenital heart defects affect 60-85% of patients with RASopathies. We analysed the clinical and molecular characteristics of atrioventricular canal defect in patients with mutations affecting genes coding for proteins with role in the RAS/MAPK pathway. Between 2002 and 2011, 101 patients with cardiac defect and a molecularly confirmed RASopathy were collected. Congenital heart defects within the spectrum of complete or partial (including cleft mitral valve) atrioventricular canal defect were diagnosed in 8/101 (8%) patients, including seven with a PTPN11 gene mutation, and one single subject with a RAF1 gene mutation. The only recurrent mutation was the missense PTPN11 c.124 A>G change (T42A) in PTPN11. Partial atrioventricular canal defect was found in six cases, complete in one, cleft mitral valve in one. In four subjects the defect was associated with other cardiac defects, including subvalvular aortic stenosis, mitral valve anomaly, pulmonary valve stenosis and hypertrophic cardiomyopathy. Maternal segregation of PTPN11 and RAF1 gene mutations occurred in two and one patients, respectively. Congenital heart defects in the affected relatives were discordant in the families with PTPN11 mutations, and concordant in that with RAF1 mutation. In conclusion, our data confirm previous reports indicating that atrioventricular canal defect represents a relatively common feature in Noonan syndrome. Among RASopathies, atrioventricular canal defect was observed to occur with higher prevalence among subjects with PTPN11 mutations, even though this association was not significant possibly because of low statistical power. Familial segregation of atrioventricular canal defect should be considered in the genetic counselling of families with RASopathies.

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Double-orifice left and Ebstenoid right atrioventricular valve repair in right dominant partial atrioventricular canal defect.

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Chondroitin sulfate expression is required for cardiac atrioventricular canal formation.

Project description:Defects in cardiac valvulogenesis are a common cause of congenital heart disease, and the study of this process promises to provide mechanistic insights and lead to novel therapeutics. Normal valve development involves multiple signaling pathways, and recently roles have been identified for extracellular matrix components, including glycosaminoglycans. We, therefore, explored the role of the glycosaminoglycan chondroitin sulfate during zebrafish cardiac development. Beginning at 33 hr, there is a distinct zone of chondroitin sulfate expression in the atrioventricular (AV) boundary, in the cardiac jelly between the endocardium and myocardium. This expression is both spatially and temporally restricted, and is undetectable after 48 hr. Chemical as well as genetic inhibition of chondroitin synthesis results in AV canal (AVC) defects, including loss of the atrioventricular constriction, blood regurgitation, and failure of circulation. Lack of chondroitin disrupts a marker of cell migration, results in a loss of myocardial and endothelial markers of valvulogenesis, and misregulates bone morphogenetic protein expression, supporting an early role in AVC development. In summary, we have defined a requirement for chondroitin sulfate expression in the normal patterning of the AV boundary, suggesting that this component of the cardiac jelly provides a necessary signal in this critical transition in vertebrate cardiogenesis.

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Antenatal Diagnosis of a Partial Atrioventricular Canal with Ebstein's Anomaly.

Project description:The simultaneous occurrence of an atrioventricular canal defect (AVCD) and Ebstein's anomaly is extremely rare, occurring in less than 0.5% of all patients with AVCD. Only 22 cases are described in the literature. This patient's antenatal diagnosis of both Ebstein's anomaly and partial AVCD was made at 25 weeks of gestation. The delivery was organized in a tertiary center. The initial neonatal course was difficult but with adequate treatment, a rapid improvement allowed for a gap of almost 2 years before a complete surgical repair including a cone tricuspid plasty. To our knowledge, this is the first case of antenatal diagnosis, with carefully tailored delivery, neonatal care and subsequent follow-up before indication for successful surgery.

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Dynamic Annular Modeling of the Unrepaired Complete Atrioventricular Canal Annulus.

Project description:BackgroundRepair of complete atrioventricular canal (CAVC) is often complicated by atrioventricular valve regurgitation, particularly of the left-sided valve. Understanding the 3-dimensional (3D) structure of the atrioventricular canal annulus before repair may help to inform optimized repair. However, the 3D shape and movement of the CAVC annulus has been neither quantified nor rigorously compared with a normal mitral valve annulus.MethodsThe complete annuli of 43 patients with CAVC were modeled in 4 cardiac phases using transthoracic 3D echocardiograms and custom code. The annular structure was compared with the annuli of 20 normal pediatric mitral valves using 3D metrics and statistical shape analysis (Procrustes analysis).ResultsThe unrepaired CAVC annulus varied in shape significantly throughout the cardiac cycle. Procrustes analysis visually demonstrated that the average normalized CAVC annular shape is more planar than the normal mitral annulus. Quantitatively, the annular height-to-valve width ratio of the native left CAVC atrioventricular valve was significantly lower than that of a normal mitral valve in all systolic phases (P < .001).ConclusionsThe left half of the CAVC annulus is more planar than that of a normal mitral valve with an annular height-to-valve width ratio similar to dysfunctional mitral valves. Given the known importance of annular shape to mitral valve function, further exploration of the association of 3D structure to valve function in CAVC is warranted.

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Single-cell transcriptional profiles of the atrioventricular canal of 1-month-old zebrafish treated with DMSO or IWR-1-endo

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The sinus venosus myocardium contributes to the atrioventricular canal: potential role during atrioventricular node development?

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