Embryonic development of bicuspid aortic valves

Soto-Navarrete, María Teresa; López‐Unzu, Miguel A.; Durán, Ana C.; Fernández, Borja

doi:10.1016/j.pcad.2020.06.008

Cited by 36 publications

(45 citation statements)

References 75 publications

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“…16 It is known that the myocardium of the left ventricle is composed of the first heart field, while the myocardium and endocardium of the atria, right ventricle, and outflow tract are mainly formed by the second heart field. 17 Thus, the aortic valves, developed from the outflow tract, have the same cellular origin as the myocardium of the partial ventricle. In addition, aortic valve morphogenesis arises at embryonic day (E)9.5, and the mature valves with fine defined leaflets are shaped at about E16.5 in mouse embryos, 16 while Lamin A/C start to be expressed in mouse extra-embryonic tissues around E8-9 and in the embryo around E10-12, playing an important role in cell differentiation, lineage specification, and tissue development.…”

Section: Discussionmentioning

confidence: 99%

“…Then, the tube loops rightward to morphologically form the atria, ventricles, and outflow tract 16 . It is known that the myocardium of the left ventricle is composed of the first heart field, while the myocardium and endocardium of the atria, right ventricle, and outflow tract are mainly formed by the second heart field 17 . Thus, the aortic valves, developed from the outflow tract, have the same cellular origin as the myocardium of the partial ventricle.…”

Section: Discussionmentioning

confidence: 99%

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A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

Tao

Duan

et al. 2021

Clinical Laboratory Analysis

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Background: Laminopathies caused by LMNA gene mutations are characterized by different clinical manifestations. Among them, cardiac involvement is one of the most severe phenotypes.Case presentation: A 30-year-old man visited the hospital because of palpitations, shortness of breath, and fatigue. He also had muscular dystrophy, joint contractures, scoliosis, and mild dysphagia. A novel de novo heterozygous LMNA splice variant (c.810+1G>T) with dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, and progressive cardiac conduction defect was identified by genetic analysis. The patient also presented with congenital aortic valve malformation, which has never been reported in laminopathies. Conclusions:The LMNA mutation (c.810+1G>T) was identified for the first time, enriching the mutation spectrum of the LMNA gene. The correlation between an LMNA mutation and congenital aortic valve malformation deserves further study.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

Tao

Duan

et al. 2021

Clinical Laboratory Analysis

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“…The mechanisms for BAV valvulopathy are not clear. Gene mutations or expression changes causes BAV Sievers types, which may be directly associated with different subtypes of valvulopathy 33 . In our study, male sex is also related to AR ≥ 2+ or m-s AS+ AR ≥ 2+, suggesting some genetic influence on the development of specific types of valvulopathy.…”

Section: Discussionmentioning

confidence: 99%

Demographic Characteristics, BAV Sievers Types, and Interactions Between BAV-Associated Valvulopathy and Aortopathy Differently Affect BAV Comorbidities and Outcomes of Aortic Valve Replacement

Zhao

et al. 2020

Preprint

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Background: Bicuspid aortic valve (BAV) is a common congenital disorder. The relationship between demographic and clinical characteristics, BAV Sievers types, BAV associated valvulopathy and/or aortopathy and outcomes of aortic valve replacement (AVR) are interwoven and complicate and have not been fully elucidated. We sought to find these interactions in a large cohort of BAV patients. Methods: We retrospectively reviewed the data of 992 BAV patients and collected the complete demographic and clinical data (baseline characteristic, BAV Sievers types, BAV valvulopathy and aortopathy, and pre-, intra- and postoperative data) to comprehensively analyze these relationships. Results: In 992 BAV patients, sex differences could be found in demography (body surface area [BSA], age and serum triglyceride), comorbidities, cardiac performance (left ventricular dimension and ejection fraction,), valvulopathy and aortopathy. Sievers types had the same distribution among male and female patients, and had an impact on the incidence of valvulopathy and aortopathy. In the entire cohort, the factors associated with valvulopathy included age, sex, BSA, systolic blood pressure (SBP) and aortopathy, while factors associated with aortopathy were age, sex, BSA and valvulopathy. Aortopathy and valvulopathy promoted the occurrence of each other. Similar risk factors for valvulopathy and aortopathy in male patients were found. For 658 BAV patients underwent AVR, the preoperative demographic characteristics were similar to the whole cohort. More males were required to have simultaneous ascending aortic replacement (AAR). For postoperative early adverse events (EAE) and total ICU hours > 24 hours, the only predict factors were age and aortic cross clamp (ACC) time, while LVEF changes (including postoperative LVEF <50%, LVEF increase or decrease more or less than 5% or 10%) were related to sex, SBP, preoperative LVEF, valvulopathy and aortopathy, AAR, ACC time. Postoperative length of stay > 7 days could be affected by SBP, AAR, aortic stenosis and ACC time. Conclusion: Our study revealed comprehensive relationships between demographic characteristics, BAV Sievers types, valvulopathy and aortopathy, and the possible risk factors for adverse outcomes after AVR in BAV patients. Sex, SBP, age, Sievers types, subtypes and interactions between aortopathy and valvulopathy differently impact on aortopathy, valvulopathy and the short outcomes of AVR.

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“…Although many of these suggestions were made decades before developmental molecular genetics existed, these potential mechanisms remain and there is evidence for each of them as potential mechanisms for BAV in the literature today. Numerous mechanisms to explain development of BAV have been proposed ( Figure 6A) over the last century [122][123][124][125][126][127]. These include excessive cushion/leaflet fusion, failure to form the main cushions, abnormal outflow tract septation, and the absence of one of the leaflet primordia, primarily the ICVS that will form the non-coronary leaflet.…”

Section: Mechanisms Underpinning Bavmentioning

confidence: 99%

“…This is particularly so with NOTCH1 . Variants are readily reported in genomic studies, but mouse knock out studies do not recapitulate the BAV (see [ 127 ]). Some of this may relate to incomplete penetrance where the mice carry a variant but are not subject to malformation (as is commonly seen in BAV families) or variable expressivity where variations of phenotype are seen.…”

Section: The Genomics Of Bavmentioning

confidence: 99%

New Concepts in the Development and Malformation of the Arterial Valves

Henderson

Eley

Chaudhry

2020

JCDD

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Although in many ways the arterial and atrioventricular valves are similar, both being derived for the most part from endocardial cushions, we now know that the arterial valves and their surrounding structures are uniquely dependent on progenitors from both the second heart field (SHF) and neural crest cells (NCC). Here, we will review aspects of arterial valve development, highlighting how our appreciation of NCC and the discovery of the SHF have altered our developmental models. We will highlight areas of research that have been particularly instructive for understanding how the leaflets form and remodel, as well as those with limited or conflicting results. With this background, we will explore how this developmental knowledge can help us to understand human valve malformations, particularly those of the bicuspid aortic valve (BAV). Controversies and the current state of valve genomics will be indicated.

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Embryonic development of bicuspid aortic valves

Cited by 36 publications

References 75 publications

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

Demographic Characteristics, BAV Sievers Types, and Interactions Between BAV-Associated Valvulopathy and Aortopathy Differently Affect BAV Comorbidities and Outcomes of Aortic Valve Replacement

New Concepts in the Development and Malformation of the Arterial Valves

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