scholarly journals Quadricuspid aortic valve: an unexpected echocardiographic finding.

2016 ◽  
Vol 18 (2) ◽  
pp. 250 ◽  
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. 

Abstract 18284: Incidence of Epilepsy is Elevated in Children and Young Adults With Congenital Heart Defects Compared With the General Population: A Nationwide Cohort Study

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Morten Olsen ◽  
Bradley S Marino ◽  
Michelle Leisner ◽  
Jessica G Woo ◽  
Nicolas L Madsen
Keyword(s):  
Young Adults ◽  
Preterm Birth ◽  
General Population ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Birth Registry ◽  
Registration System ◽  
Children And Young Adults

Perioperative seizures related to surgery for congenital heart defects (CHD) are well described; however, few data exist on the long-term risk of epilepsy in patients with CHD. We aimed to estimate the incidence of epilepsy in children and young adults with CHD compared with the general population. Methods: Utilizing data from the Danish National Registry of Patients (DNRP) we identified all patients diagnosed with CHD before the age of 15 years between 1980 and 2010 who were born during the same period. The DNRP is a nationwide hospital discharge registry covering all Danish hospitals. Previously validated methodology using the DNRP was applied to measure the outcome, epilepsy, as well as presence of extra cardiac defects (ECD) and/or syndromes. We used the Danish Medical Birth Registry to identify preterm birth (gestational age<37 weeks). For each CHD subject, we identified 10 controls from the general population using the Danish Civil Registration System, matched by sex and birth year. A unique personal identifier assigned at birth and used in all Danish public registries enabled virtually complete follow up for migration, death, or epilepsy until January 1, 2013. We computed cumulative incidences and hazard ratios (HR) (split at 5 years of age to obtain proportional hazards) of time from CHD diagnosis (index date for controls) to epilepsy. Results: We identified 14,665 CHD subjects with a median age at diagnosis of 2 (IQR 19) months. By 15 years of age, the cumulative incidence of epilepsy was 4% among CHD subjects. The HR of epilepsy among CHD subjects compared with the control cohort was 3.7 (95% CI: 3.2-4.3) below 5 years of age, and 2.4 (95% CI: 2.1-2.7) from 5 to 33 years of age. In the older age group, HR for patients with severe CHD was 2.8 (95% CI: 2.3-3.5), and for mild and moderate CHD was 2.2 (95% CI: 1.8-2.6). After exclusion of all subjects with ECDs and/or syndromes and preterm birth, corresponding HRs were 2.2 (95% CI: 1.6-3.0) and 1.7 (95% CI: 1.3-2.2), respectively. Conclusion: The epilepsy risk was markedly increased in CHD subjects compared with the age and gender matched controls. These findings add evidence to support the importance of developing neuro-protective measures and potentially long-term epilepsy surveillance strategies in the CHD population.

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

2016 ◽  
Vol 12 (3) ◽  
pp. 261-269 ◽  
Author(s):  
Talha Niaz ◽  
Joseph T. Poterucha ◽  
Jonathan N. Johnson ◽  
Cecilia Craviari ◽  
Thomas Nienaber ◽  
...  
Keyword(s):  
Young Adult ◽  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects

scholarly journals Disability Among Young Adults With Congenital Heart Defects: Congenital Heart Survey to Recognize Outcomes, Needs, and Well‐Being 2016–2019

2021 ◽  
Author(s):  
Karrie F. Downing ◽  
Matthew E. Oster ◽  
Scott E. Klewer ◽  
Charles E. Rose ◽  
Wendy N. Nembhard ◽  
...  
Keyword(s):  
General Population ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Self Care ◽  
Well Being ◽  
Measurement Information ◽  
Limited Information ◽  
Healthcare Needs ◽  
Patient Reported

Background Disabilities have implications for health, well‐being, and health care, yet limited information is available on the percentage of adults with congenital heart defects (CHD) living with disabilities. We evaluated the prevalence of disability and associated characteristics among the 2016–2019 CH STRONG (Congenital Heart Survey to Recognize Outcomes, Needs, and Well‐Being) population‐based sample of 19‐ to 38‐year‐olds with CHD from 3 US locations. Methods and Results Prevalence of disability types (hearing, vision, cognition, mobility, self‐care, living independently) were compared with similarly aged adults from the general population as estimated by the American Community Survey and standardized to the CH STRONG eligible population to reduce nonresponse bias and confounding. Health‐related quality of life (HRQOL) was measured via Patient‐Reported Outcomes Measurement Information System Global Health Scale T‐scores standardized to US 18‐ to 34‐year‐olds. Separate multivariable regression models assessed associations between disability and HRQOL. Of 1478 participants, 40% reported disabilities, with cognition most prevalent (29%). Of those reporting disability, 45% ever received disability benefits and 46% were unemployed. Prevalence of disability types were 5 to 8 times higher in adults with CHD than the general population. Those with ≥1 disability had greater odds of being female, and of having non‐Hispanic Black maternal race and ethnicity, severe CHD, recent cardiac care, and noncardiac congenital anomalies. On average, adults with CHD and cognition, mobility, and self‐care disabilities had impaired mental HRQOL and those with any disability type had impaired physical HRQOL. Conclusions Two of 5 adults with CHD may have disabilities, which are associated with impaired HRQOL. These results may inform healthcare needs and services for this growing population.

scholarly journals Images of Anomalous Origin of The Right Coronary Artery From the Pulmonary Artery

2019 ◽  
Vol 22 (4) ◽  
pp. E308-E309
Author(s):  
He Fan ◽  
Weng Jiakan ◽  
He Qicai ◽  
Qian Ximing ◽  
Chen Huaidong
Keyword(s):  
Coronary Artery ◽  
General Population ◽  
Pulmonary Artery ◽  
Coronary Arteries ◽  
Congenital Heart Defects ◽  
Right Coronary Artery ◽  
Congenital Heart ◽  
Heart Defects ◽  
Anomalous Origin ◽  
The Right

Anomalies of the coronary arteries -- especially their abnormal origin from the pulmonary artery (ARCAPA) trunk -- are among the least common. They’re also the most dangerous of congenital heart defects with an incidence of 0.002% in the general population [Williams 2006]. The diagnosis exceedingly is difficult because anatomical abnormalities of the coronary arteries are subtle. We present a case of an anomalous origin of the right coronary artery.

The contribution of X-chromosome genomic imprinting to the bicuspid aortic valve and aortic coarctation prevalence in women with Turner syndrome

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
E Klaskova ◽  
P Vrtel ◽  
R Vrtel ◽  
K Adamova ◽  
D.I.T.A Vrbicka ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Genomic Imprinting ◽  
Bicuspid Aortic Valve ◽  
X Chromosome ◽  
Congenital Heart Defects ◽  
Aortic Coarctation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Funding Source

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

scholarly journals Bicuspid Aortic Valve: Morphology, Clinic, Diagnosis, Complications

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.

scholarly journals The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis

QJM ◽  
2007 ◽  
Vol 100 (12) ◽  
pp. 743-753 ◽  
Author(s):  
I.M. van Beynum ◽  
M. den Heijer ◽  
H.J. Blom ◽  
L. Kapusta
Keyword(s):  
Literature Review ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Meta Analysis

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

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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