Quadricuspid aortic valve and anomalous origin of the left circumflex coronary artery in a young man with Down syndrome

Bassareo, Pier Paolo; Hasan, Tammam; Bonvicini, Marco; Mercuro, Giuseppe

doi:10.1002/ccr3.126

Cited by 2 publications

(3 citation statements)

References 5 publications

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“…Patients with QAV mostly present with aortic insufficiency and less commonly aortic stenosis [5]. More than half will present in adulthood with features of aortic insufficiency and more than 50% will require aortic valvular replacement in the sixth and seventh decade of life due to worsening aortic regurgitation [2, 19]. Infective endocarditis occurs in 1.4% of these patients [8] depending on the Hurwitz classification and its effect on dynamics of blood flow across the valve as mechanical stress on the abnormal valves [20] is thought to play a key role.…”

Section: Discussionmentioning

confidence: 99%

Quadricuspid Aortic Valve: Report of Two Cases and Brief Review

Oladiran

Nwosu

Dhital

et al. 2019

Case Reports in Cardiology

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Quadricuspid aortic valve (QAV) is a rare congenital cardiac defect characterized by the presence of four aortic valve leaflets of equal or varying sizes. Even rarer is its clinical presentation with aortic stenosis. Diagnosis of QAV could be challenging but is of great importance as patients often present with progressive aortic regurgitation. We present 2 cases of QAV presenting differently: one with aortic stenosis requiring valve replacement and the other with aortic regurgitation requiring close monitoring.

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Section: Discussionmentioning

confidence: 99%

Quadricuspid Aortic Valve: Report of Two Cases and Brief Review

Oladiran

Nwosu

Dhital

et al. 2019

Case Reports in Cardiology

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“…The exactly genetic causation of CHD is unclear and about ~50% Down syndrome patients [25] have CHD; therefore, the parents or their babies/fetus who have abnormal karyotypes were excluded from this study.…”

Section: Methodsmentioning

confidence: 99%

“…All the control and CHD subjects recruited in this study and their babies/fetus were all diagnosed in the Prenatal Diagnosis Center (also called the Medical Genetic Center) by karyotype analysis of peripheral blood or amniotic fluid. The exactly genetic causation of CHD is unclear and about ~50% Down syndrome patients [ 25 ] have CHD; therefore, the parents or their babies/fetus who have abnormal karyotypes were excluded from this study.…”

Section: Methodsmentioning

confidence: 99%

Parental Genetic Variants, MTHFR 677C>T and MTRR 66A>G, Associated Differently with Fetal Congenital Heart Defect

Guo

Wang

Tie

et al. 2017

BioMed Research International

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Background Congenital heart defect (CHD) is one of the most common birth defects in the world. The methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes are two of the most important candidate genes for fetal CHD. However, the correlations between the two genes and fetal CHD were inconsistent in various reports. Therefore, this study is aimed to evaluate the parental effects of the two genes on fetal CHD via three genetic polymorphisms, MTHFR 677C>T (rs1801133), MTHFR 1298 A>C (rs1801131), and MTRR 66A>G (rs1801394). Methods Parents with pregnancy history of fetal CHD were divided into two subgroups: ventricular septal defect (VSD) (21) and non-VSD groups (78). VSD, non-VSD, and 114 control parents (controls) were analyzed in this study. Genotyping of these genetic polymorphisms was done by sequencing. Results The MTHFR 677C>T polymorphism of either mothers or fathers was independently associated with fetal non-VSD (P < 0.05) but not VSD, while the MTRR 66A>G polymorphism was independently associated with fetal VSD (P < 0.05) but not non-VSD. No significance was found for MTHFR 1298A>C polymorphism. Conclusion In either maternal or paternal group, the MTHFR 677C>T polymorphism was independently related to fetal non-VSD, while the MTRR 66A>G polymorphism was independently related to fetal VSD.

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Quadricuspid aortic valve and anomalous origin of the left circumflex coronary artery in a young man with Down syndrome

Cited by 2 publications

References 5 publications

Quadricuspid Aortic Valve: Report of Two Cases and Brief Review

Quadricuspid Aortic Valve: Report of Two Cases and Brief Review

Parental Genetic Variants, MTHFR 677C>T and MTRR 66A>G, Associated Differently with Fetal Congenital Heart Defect

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