New Onset Mitral Regurgitation Caused by Mitral Valve Prolapse in a Male Patient with Dominant Pretibial Dystrophic Epidermolysis Bullosa

Uysal, PinarIncel; Akdoğan, Neslihan; Çavdarlı, Büşra; Kahraman, Devrim; Berkalp, Berkten; Gököz, Özay

doi:10.4103/ijd.ijd_176_21

Cited by 2 publications

(1 citation statement)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…BMPER regulates cardiomyocyte size and changes in the mitral valve have been detected in BMPER knockout mice (Willis et al 2013). COL17A1 has been linked to mitral regurgitation and mitral valve prolapse in humans (Uysal et al 2022). CRIP1 expression has been associated with cardiac hypertrophy and an increased risk of stroke (Zeller et al 2017).…”

Section: Discussionmentioning

confidence: 99%

Mitral valve transcriptome analysis in thirty-four age-matched Cavalier King Charles Spaniels with or without myxomatous mitral valve disease

Reimann

Cremer

Christiansen

et al. 2023

Preprint

View full text Add to dashboard Cite

We here report the results of a mitral valve transcriptome study designed to identify genes and molecular pathways involved in development of myxomatous mitral valve disease (MMVD) in dogs. The study is focused on a cohort of elderly age-matched dogs (n=34, age ~10 years) from a single breed – Cavalier King Charles Spaniels – with a high incidence of MMVD. The cohort comprises 19 dogs (10♀, 9♂) without MMVD, or with early stages of MMVD, and 15 dogs (6♀, 9♂) with congestive heart failure caused by MMVD. I.e. we compare gene expression in breed and age matched groups of dogs, which only differ with respect to severity of disease. We identify 56 genes, which are differentially expressed between the two groups. In this list of genes, we confirm an enrichment of genes related to the TNFβ signaling pathway, extracellular matrix organization, vascular development, and endothelium damage, which also have been identified in previous studies. However, the genes with the greatest difference in expression between the two groups are CNTN3 and MYH1. Both genes encode proteins, which are predicted to have an effect on the contractile activity of myocardial cells, which in turn may have an effect on valvular performance and hemodynamics across the mitral valve. This may result in shear forces with impact on MMVD progression.

show abstract

Section: Discussionmentioning

confidence: 99%

Mitral valve transcriptome analysis in thirty-four age-matched Cavalier King Charles Spaniels with or without myxomatous mitral valve disease

Reimann

Cremer

Christiansen

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

Mitral valve transcriptome analysis in thirty-four age-matched Cavalier King Charles Spaniels with or without congestive heart failure caused by myxomatous mitral valve disease

Reimann,

Cremer,

Christiansen

et al. 2023

Mamm Genome

View full text Add to dashboard Cite

We here report the results of a mitral valve transcriptome study designed to identify genes and molecular pathways involved in development of congestive heart failure (CHF) following myxomatous mitral valve disease (MMVD) in dogs. The study is focused on a cohort of elderly age-matched dogs (n = 34, age ~ 10 years) from a single breed—Cavalier King Charles Spaniels (CKCS)—with a high incidence of MMVD. The cohort comprises 19 dogs (10♀, 9♂) without MMVD-associated CHF, and 15 dogs (6♀, 9♂) with CHF caused by MMVD; i.e., we compare gene expression in breed and age-matched groups of dogs, which only differ with respect to CHF status. We identify 56 genes, which are differentially expressed between the two groups. In this list of genes, we confirm an enrichment of genes related to the TNFβ-signaling pathway, extracellular matrix organization, vascular development, and endothelium damage, which also have been identified in previous studies. However, the genes with the greatest difference in expression between the two groups are CNTN3 and MYH1. Both genes encode proteins, which are predicted to have an effect on the contractile activity of myocardial cells, which in turn may have an effect on valvular performance and hemodynamics across the mitral valve. This may result in shear forces with impact on MMVD progression.

show abstract

New Onset Mitral Regurgitation Caused by Mitral Valve Prolapse in a Male Patient with Dominant Pretibial Dystrophic Epidermolysis Bullosa

Cited by 2 publications

References 5 publications

Mitral valve transcriptome analysis in thirty-four age-matched Cavalier King Charles Spaniels with or without myxomatous mitral valve disease

Mitral valve transcriptome analysis in thirty-four age-matched Cavalier King Charles Spaniels with or without myxomatous mitral valve disease

Mitral valve transcriptome analysis in thirty-four age-matched Cavalier King Charles Spaniels with or without congestive heart failure caused by myxomatous mitral valve disease

Contact Info

Product

Resources

About