Bicuspid aneurysm in Indian patient

[dixitworld]

Any Indian patient here who was bicuspid and have got aneurysm and what size you are following to be operated on? Is there any variation on aneurysm size by asian(Indian)

 

[tjay]

Please follow the same global criteria. Race-based thresholds haven’t been defined to the best of my knowledge.

Genetic testing to look for such markers seem to be in development and currently not validated or useful at all.

Please follow existing global practices.

 

[pellicle]

Race-based thresholds haven’t been defined to the best of my knowledge.

agreed, and we don't even really have it nailed down by genotype yet either ... as well there is likely to be some overlap (assuming there is clear racial clustering of relevant genotypes).

 

[pellicle]

Google is now making me lazy

Several genes and gene variants are associated with aortic aneurysm growth, including:

• TGF-β signaling cascade genes: Mutations in these genes, such as FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3, and SKI, are associated with thoracic aortic aneurysm (TAA). These conditions are known as TGF-β vasculopathies (TGFβVs).
• Smooth muscle contractile apparatus genes: Mutations in these genes, such as ACTA2, MYH11, MYLK, and PRKG1, are associated with TAA. These conditions are known as smooth muscle contraction vasculopathies (SMCVs).
• CDKN2BAS gene: Also known as ANRIL, this gene encodes an antisense RNA that regulates the expression of cyclin-dependent kinase inhibitors.
• DAB2IP: This gene encodes an inhibitor of cell growth.
• Rs2836411: This non-coding genetic variant is an expression quantitative trait loci (eQTL) with ERG and LINC0014 in vascular tissues.
• miR-143/145: These miRNAs are downregulated in aneurysms compared to control aorta.
  

It was quite tricky to paste the References, so I'll just leave this:

• Evaluating the monogenic contribution and genotype ...
  6 Apr 2021 — More importantly, aortic rupture and/or dissection occur in a part of patients even when the aortas are moderately dilat...
  
  PubMed Central
  
  
• 
  Genes and Abdominal Aortic Aneurysm - PMC
  The two genes with the strongest supporting evidence of contribution to the genetic risk for AAA are the CDKN2BAS gene, also known...
  
  National Institutes of Health (NIH) (.gov)
  
  
• 
  Genetic and Epigenetic Mechanisms Underlying Vascular Smooth ...
  5.3. 2. miR-143/145. The miR-143/145 cluster highly expressed in VSMCs and has been shown to be most abundantly expressed in the h...
  
  National Institutes of Health (NIH) (.gov)
  
  
• 
  A non-coding genetic variant associated with abdominal aortic ...
  Rs2836411 is an expression quantitative trait loci with ERG and LINC0014 in vascular tissues. We next investigated whether rs28364...
  
  National Institutes of Health (NIH) (.gov)
  
  
• 
  Hereditary Influence in Thoracic Aortic Aneurysm and Dissection
  Thoracic aortic aneurysm (TAA) is a potentially life-threatening condition in that it places patients at risk for aortic dissectio...
  
  
  
  National Institutes of Health (NIH) (.gov)

Frankly lit reviews are getting too easy now