Incidence, morphology, and progression of bicuspid aortic valve in pediatric and young adult subjects with coexisting congenital heart defects

Abstract Introduction Turner syndrome (TS) is caused by the absence or structural abnormality of X chromosome. Compared with the general population, the prevalence of congenital heart defects is significantly higher in women with TS, especially with 45,X karyotype. Moreover, congenital heart defects represent the major risk for aortic dissection in TS individuals. Purpose There is a lack of reliable evidence whether the extremely variable cardiovascular phenotype including presence of aortic coarctation (CoA) and bicuspid aortic valve (BAV) in TS women may be influenced by the parental origin of the retained X chromosome. Methods DNA samples were collected from peripheral lymphocytes of 48 women with non-mosaic 45,X karyotype and from buccal swab of their biological parents' cheek. Subsequently, the single normal X-chromosome origin was identified. Based on genetic evaluation, patients were divided into two subgroups according to the parenteral original of X chromosome - maternal (XM), and paternal (XP). Complete cardiovascular examination (echocardiography, MRI of the heart and great vessels) was performed in each of our study patient. Differences between the prevalence of BAV and CoA in two above mentioned subgroups were tested by Student's t-test using R Statistical Software version 2.15.3. Results The origin of the single X chromosome was as follows: in 14 (29.2%) individuals was proved paternal and in 34 (70.8%) maternal origin of X chromosome. The prevalence of BAV in the whole group was 47.9%, in XP 58%, in XM 44.1%; the prevalence of CoA in the whole group was 8.3%, in XP 7.1%, in XM 8.8%. There was no statistically significant difference identified between the prevalence of BAV and CoA in XP and XM subgroups. Conclusions Our study confirmed an extremely high prevalence of BAV and CoA in non-mosaic women with X chromosome monosomy but no clear evidence for X-linked genomic imprinting effect on the CoA and BAV development in TS individuals was found. However, further studies of larger numbers of TS patients are crucial to finally clarify the real relationship of genomic imprinting and cardiovascular disease in TS. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): Supported by the grant from Ministry of Health of the Czech Republic VES 2017

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Bicuspid Aortic Valve: Morphology, Clinic, Diagnosis, Complications

Rational Pharmacotherapy in Cardiology ◽

10.20996/1819-6446-2021-02-05 ◽

2021 ◽

Vol 17 (1) ◽

pp. 111-118

Author(s):

Y. L. Trysvetava

Keyword(s):

Surgical Treatment ◽

Aortic Valve ◽

Bicuspid Aortic Valve ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Defects ◽

Treatment Technique ◽

Aortic Lesion ◽

Valve Dysfunction ◽

Echocardiographic Study

Bicuspid aortic valve refers to common (0.5-2% of the population) congenital heart defects that are asymptomatic throughout life, with valve dysfunction and/or aortopathy (pathia- from Greek pathos disease), manifested by expansion, aneurysm or dissection of the vessel. The pathogenesis of the formation of a bicuspid valve is unknown, a genetic component is noted, since the defect develops as sporadic, familial, in combination with other congenital heart defects and with hereditary connective tissue disorders. Morphogenetic studies suggest that different phenotypes of bicuspid aortic valve can be considered as etiologically different diseases, with valve dysfunction or valve dysfunction and aortopathy. Aortic lesion is characterized by phenotypic heterogeneity due to genetic or hemodynamic features. Researchers are discussing the relationship between the phenotype of the bicuspid aortic valve and aortopathy to predict the course of the disease and select the optimal surgical treatment technique. Diagnosis of heart disease is based on the results of an echocardiographic study, magnetic resonance imaging. Surgical treatment is performed for significant hemodynamic disturbances resulting from insufficiency or stenosis of the aortic valve, in cases of infective endocarditis, the risk of which is high, with aneurysm or aortic dissection.

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Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) – A case report and review of congenital heart defects reported in the human ciliopathies

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2012.07.010 ◽

2012 ◽

Vol 55 (11) ◽

pp. 605-610 ◽

Cited By ~ 20

Author(s):

Natalya Karp ◽

Lars Grosse-Wortmann ◽

Sarah Bowdin

Keyword(s):

Case Report ◽

Aortic Valve ◽

Aortic Stenosis ◽

Atrial Septal Defect ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Septal Defect ◽

Severe Aortic Stenosis ◽

Heart Defects ◽

Joubert Syndrome

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Quadricuspid aortic valve: an unexpected echocardiographic finding.

Medical Ultrasonography ◽

10.11152/mu.2013.2066.182.4cv ◽

2016 ◽

Vol 18 (2) ◽

pp. 250 ◽

Cited By ~ 3

Author(s):

Carlos Manuel Aboitiz-Rivera ◽

Ruben Blachman-Braun ◽

Mario Fernando Lanza ◽

Roberto Berebichez-Fridman ◽

María José Díaz-Huízar ◽

...

Keyword(s):

Aortic Valve ◽

General Population ◽

Literature Review ◽

Aortic Valve Replacement ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Defects ◽

Quadricuspid Aortic Valve ◽

Hispanic Population ◽

Echocardiographic Finding

Quadricuspid aortic valve (QAV) is an anatomic valvular variant, with a prevalence of 0.008% to 0.033% in the general population, and 1.46% in patients that undergo aortic valve replacement. The QAV can be an isolated valvular abnormality or associated with other congenital heart defects. In this article, we present three of the few reported cases of QAV in the Hispanic population, all of which were asymptomatic and without evidence of hemodynamic alterations or other associated heart defects. Additionally a literature review is provided.

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CABG With Internal Thoracic Artery in Children With Congenital Heart Defects: A Good Option When It Is the Only One

World Journal for Pediatric and Congenital Heart Surgery ◽

10.1177/2150135120940151 ◽

2020 ◽

Vol 11 (6) ◽

pp. 748-752

Author(s):

Christian Kreutzer ◽

Gustavo Bastianelli ◽

Benjamin Chiostri ◽

Guillermo Gutierrez ◽

Daniel Alberto Klinger ◽

...

Keyword(s):

Coronary Artery ◽

Aortic Valve ◽

Valve Replacement ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Internal Thoracic Artery ◽

Pulmonary Valve ◽

Heart Defects ◽

Right Ventricular Outflow Tract ◽

Pulmonary Valve Replacement

Objective: Coronary complications may present during or after repair of congenital heart defects. We report coronary artery bypass grafting (CABG) by internal thoracic artery (ITA) grafts to either coronary artery in children with congenital anomalies. Methods: Four cases who underwent CABG with ITA grafts from March 2016 to March 2020 were retrospectively reviewed. Results: At the time of operation, patient’s ages and weight were 7 and 20 months old and 14 and 15 years old and 6.5, 10, 40, and 45 kg, respectively. Diagnosis were anomalous origin of the left coronary artery from the pulmonary artery with leftward lateral ostial origin (n = 1), neopulmonary annulus hypoplasia post arterial switch with contiguous right coronary artery (RCA) arising from the left facing sinus (n = 1), RCA stenosis after the Ross procedure (n = 1), and right coronary ostial obstruction after aortic valve replacement in truncus arteriosus (n = 1). Procedures included left ITA to left coronary ostium (n = 1), right ventricular outflow tract (RVOT) enlargement with pulmonary valve replacement with left ITA to RCA (n = 1), RVOT enlargement with pulmonary valve replacement with right ITA to RCA (n = 1), and aortic valve re-replacement, pulmonary valve replacement, and right ITA to RCA (n = 1). At last follow-up, all four patients were asymptomatic, with normal ventricular function, and all grafts were patent. Conclusions: The use of CABG in children is valuable alternative when dealing with complex coronary anatomy not suitable for classic repairs. In children, graft patency is required to be longer than 50 years; therefore, use of arterial grafts seems mandatory.

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Risk of congenital heart defects is influenced by genetic variation in folate metabolism

Cardiology in the Young ◽

10.1017/s1047951112000431 ◽

2012 ◽

Vol 23 (1) ◽

pp. 89-98 ◽

Cited By ~ 13

Author(s):

Karen E. Christensen ◽

Yassamin Feroz Zada ◽

Charles V. Rohlicek ◽

Gregor U. Andelfinger ◽

Jacques L. Michaud ◽

...

Keyword(s):

Aortic Valve ◽

Ventricular Septal Defect ◽

Aortic Valve Stenosis ◽

Congenital Heart Defects ◽

Odds Ratio ◽

Multiple Testing ◽

Congenital Heart ◽

Septal Defect ◽

Heart Defects ◽

Folate Metabolism

AbstractGenetic disturbances in folate metabolism may increase risk for congenital heart defects. We examined the association of heart defects with four polymorphisms in folate-related genes (methylenetetrahydrofolate reductase (MTHFR) c.677C > T, MTHFR c.1298A > C, methionine synthase reductase (MTRR) c.66A > G, and reduced folate carrier (SLC19A1) c.80A > G) in a case–control study of children (156 patients, 69 controls) and mothers of children with heart defects (181 patients, 65 controls), born before folic acid fortification. MTRR c.66A > G in children modified odds ratios for overall heart defects, specifically ventricular septal defect and aortic valve stenosis (p-value below 0.05). The 66GG and AG genotypes were associated with decreased odds ratios for heart defects (0.42, 95% confidence interval (0.18–0.97) and 0.39 (0.18–0.84), respectively). This overall association was driven by decreased risk for ventricular septal defect for 66GG and AG (odds ratio 0.32 (0.11–0.91) and 0.25 (0.09–0.65)) and decreased odds ratio for aortic valve stenosis for 66AG (0.27 (0.09–0.79)). The association of ventricular septal defect and 66AG remained significant after correction for multiple testing (p = 0.0044, multiple testing threshold p = 0.0125). Maternal MTHFR 1298AC genotype was associated with increased odds ratio for aortic valve stenosis (2.90 (1.22–6.86), p = 0.0157), but this association did not meet the higher multiple testing threshold. No association between MTHFR c.677C > T or SLC19A1 c.80A > G and heart defect risk was found. The influence of folate-related polymorphisms may be specific to certain types of heart defects; larger cohorts of mothers and children with distinct sub-classes are required to adequately address risk.

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