Cardiogenesis: An Embryological Perspective

Muñoz‐Chápuli, Ramón; Pérez‐Pomares, José M.

doi:10.1007/s12265-009-9146-1

Cited by 16 publications

(18 citation statements)

References 137 publications

(141 reference statements)

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“…14 An overview of the complex sequence of events that results in a well-formed heart at birth is beyond the scope of this review. 14 Disruption of any developmental step can result in a cardiac malformation. Anatomical, functional and clinical categorisations exist for the myriad described cardiac lesions (Figure 1).…”

Section: Clinical Description and Epidemiology Of Chdmentioning

confidence: 99%

“…14,71,72 Haploinsufficiency of GATA4 is now one of the most frequent rare structural anomalies identified in genome-wide CNV studies of CHD. 34,39,41,47,48,50,52,58 Unlike the typical chromosomal rearrangements at 1q21.1, 15q11.2 and 22q11.2 mediated by non-allelic homologous recombination, these 8p deletions are non-recurrent and of varying size.…”

Section: Genome-wide Cnv In Chdmentioning

confidence: 99%

“…GATA4 encodes an essential cardiac transcription factor that works in concert with other key regulators of cardiac morphogenesis like NKX2-5 and TBX5 . 14,71 …”

Section: Genome-wide Cnv In Chdmentioning

confidence: 99%

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The importance of copy number variation in congenital heart disease

Costain

Silversides

2016

npj Genomic Med

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Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD. These include de novo and inherited variants at established (chromosome 22q11.2), emerging (chromosome 1q21.1), and novel loci across the genome. Variable expression of rare CNVs provides support for the notion of a genetic spectrum of CHD that crosses traditional anatomic classification boundaries. Clinical genetic testing using genome-wide technologies (e.g., chromosomal microarray analysis) is increasingly employed in prenatal, paediatric and adult settings. CNV discoveries in CHD have translated to changes to clinical management, prognostication and genetic counselling. The convergence of findings at individual gene and at pathway levels is shedding light on the mechanisms that govern human cardiac morphogenesis. These clinical and research advances are helping to inform whole-genome sequencing, the next logical step in delineating the genetic architecture of CHD.

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Section: Clinical Description and Epidemiology Of Chdmentioning

confidence: 99%

Section: Genome-wide Cnv In Chdmentioning

confidence: 99%

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The importance of copy number variation in congenital heart disease

Costain

Silversides

2016

npj Genomic Med

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“…Embryonic stem (ES) 2 cells hold great promise for tissue engineering (1, 2). Their remarkable capacity to self-renew and their pluripotency properties make these cells ideal candidates for regenerative medicine.…”

Section: Introductionmentioning

confidence: 99%

“…Directed CM specification of ES can be promoted by biological molecules, such as BMP2, activin-A, and BMP4, or by co-culture with an endodermal cell line. Increased CM specification of ES cells can also be enhanced by small biological and non-biological molecules, including sulfonylhydrazone, an inducer of Nkx2.5, and BIO, a GSK-3 inhibitor (2, 8–13). Yet, the efficiency for ES-directed cardiac lineage is still low.…”

Section: Introductionmentioning

confidence: 99%

Inhibition of Cardiomyocytes Differentiation of Mouse Embryonic Stem Cells by CD38/cADPR/Ca2+ Signaling Pathway

Wei

Sun

Ting

et al. 2012

Journal of Biological Chemistry

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Background: The role and mechanism of cADPR, an endogenous Ca2+-mobilizing nucleotide, in cardiomyogenesis remain to be determined.Results: We found that inhibition of the cADPR cascade facilitated cardiomyocyte differentiation of mouse ES cells.Conclusion: The CD38-cADPR-Ca2+ signaling pathway antagonizes the cardiomyocyte differentiation of mouse ES cells.Significance: Inhibition of cADPR signaling should provide a good approach to enrich functional cardiomyocytes from ES cells.

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The birth of cardiac disease: Mechanisms linking gestational diabetes mellitus and early onset of cardiovascular disease in offspring

Tocantins

Diniz

Grilo

et al. 2022

WIREs Mechanisms of Disease

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Cardiovascular disease (CVD) is the biggest killer worldwide, composing a major economic burden for health care systems. Obesity and diabetes are dual epidemics on the rise and major risk factors predisposing for CVD. Increased obesity‐ and diabetes‐related incidence is now observed among children, adolescents, and young adults. Gestational diabetes mellitus (GDM) is the most common metabolic pregnancy disorder, and its prevalence is rapidly increasing. During pregnancies complicated by GDM, the offspring are exposed to a compromised intrauterine environment characterized by hyperglycemic periods. Unfavorable in utero conditions at critical periods of fetal cardiac development can produce developmental adaptations that remodel the cardiovascular system in a way that can contribute to adult‐onset of heart disease due to the programming during fetal life. Epidemiological studies have reported increased cardiovascular complications among GDM‐descendants, highlighting the urgent need to investigate and understand the mechanisms modulated during fetal development of in utero GDM‐exposed offspring that predispose an individual to increased CVD during life. In this manuscript, we overview previous studies in this area and gather evidence linking GDM and CVD development in the offspring, providing new insights on novel mechanisms contributing to offspring CVD programming by GDM, from the role of maternal–fetal interactions to their impact on fetal cardiovascular development, how the perpetuation of cardiac programming is maintained in postnatal life, and advance the intergenerational implications contributing to increased CVD premature origin. Understanding the perpetuation of CVD can be the first step to manage and reverse this leading cause of morbidity and mortality. This article is categorized under: Reproductive System Diseases > Molecular and Cellular Physiology Cardiovascular Diseases > Molecular and Cellular Physiology Metabolic Diseases > Genetics/Genomics/Epigenetics

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Cardiogenesis: An Embryological Perspective

Cited by 16 publications

References 137 publications

The importance of copy number variation in congenital heart disease

The importance of copy number variation in congenital heart disease

Inhibition of Cardiomyocytes Differentiation of Mouse Embryonic Stem Cells by CD38/cADPR/Ca2+ Signaling Pathway

The birth of cardiac disease: Mechanisms linking gestational diabetes mellitus and early onset of cardiovascular disease in offspring

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