Can you do this with your hand?

https://www.mayoclinic.org/diseases-
conditions/marfan-syndrome/symptoms-
causes/syc-20350782
Tearing Hearts, and How to Fix Them

Anwesha Gorantla
Independent Research
Mount Hebron High School
 ● Interest
Overview ● Background:
○ Genetic mutations and
connective tissue
○ What is Marfan
Syndrome
https://www.elegantthemes.com/blog/resources/asana-an-in-depth-
● Research
● Inefficiencies in treatment:
overview-and-use-case-recommendations

○ Diagnosis procedure
○ Optional Surgery
○ Drug effectiveness
● Product
My Interest

● Johns Hopkins laboratory visit

● Possible career option
○ Genetics
○ Biology
https://www.hopkinsmedicine.org/usnews/index.html
Background: Genetic Mutations

Irregularities in the DNA

● Missense
● Nonsense
● Insertion
● Deletion
● Duplication https://phys.org/news/2019-02-motor-enzyme-genome-mechanisms.html
 Background: Tissue

4 types
Nervous Muscular Epithelial Connective

http://www.austincc.edu/histologyhelp/tissues/tx_nerv_tis.html https://www.kenhub.com/en/start/c/muscle-tissue http://stevegallik.org/histologyolm_Ch02_P03.html https://ohiostate.pressbooks.pub/vethisto/chapter/

3-organization-of-connective-tissue/
 Background: Connective Tissue

4 types
Loose irregular Dense irregular Dense regular Embryonic
connective tissue connective tissue connective tissue connective tissue

https://ohiostate.pressbooks.pub/vethisto/chapter/3-organization-of-connective-tissue/ https://trello.com/c/nOS519ai/49-no-12-embryonic-connective-tissue-mesenchyme-umbilical-cord-he
What is Marfan
Syndrome?
● Connective tissue disorder

● FBN1 gene

● Most body functions

● Genetic

https://www.marfan.org/about/signs
● Aortic dilation
Research Process: Data Collection:

● Meta-Analysis
● Interviews

https://www.youtube.com/watch?v=nw6kJiwDyHk&t=2s
Drug Effectiveness

Beta-blockers:

● Slow aortic enlargement

● Losartan
● Administering it early on
● Before and after surgery

http://www.cardiosurgeon.co.uk/treatment-guide/aortic-aneurysms/
Diagnosis Procedure: Ghent Criteria
What is the Ghent Criteria:
● Ghent criteria work by
weighing the possibility of a
patient contracting the illness
against similar illnesses
● Major Criteria
● Minor Criteria
Proposed revisions to Ghent criteria:
● Details on FBN1 gene
● Accuracy vs. Efficiency
○ Medical expertise
○ Molecular testing
Treatment: Surgical Options

Elective Vs. Emergent

✅ ● Survival Rate
❌
● Life Expectancy

○ Complication

● Quality of life
 Product

Video:

● Access to information

● Reference images

https://blog.hubspot.com/marketing/14-ideas-to-grow-brand-awareness-at-
lightning-speed
● Rare illness http://www.brainfacts.org/thinking-sensing-and-
behaving/thinking-and-awareness?page=2

Awareness is KEY!
QUESTIONS?
 Works Cited

Barron, B. (2018, April 10). Asana: An In-Depth Overview and Use Case Recommendations [Illustration]. Retrieved from

https://www.elegantthemes.com/blog/wp-content/uploads/2018/04/asana-featured-image.png

Bavaria, J. E., Devereux, R. B., Dietz, H. C., Eagle, K. A., Holmes, K. W., Kindem, M., Kroner, B. L., LeMaire, S. A., Maslen, C. L.,

Milewicz, D. M., Menashe, V., Pyeritz, R. E., Ravekes, W., Song, H. K., Weinsaft, J. W., Genetically Triggered Thoracic Aortic

Aneurysms and Cardiovascular Conditions Consortium (2011). Long-term implications of emergency versus elective proximal

aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular

Conditions Consortium Registry. The Journal of thoracic and cardiovascular surgery, 143(2), 282-6.

Embryonic connective tissue, mesenchyme [Photograph]. (n.d.). Retrieved from https://trello.com/c/nOS519ai/49-no-12-embryonic-

connective-tissue-mesenchyme-umbilical-cord-he
 Works Cited (Continued)

Finger length in Marfan syndrome [Photograph]. (n.d.). Retrieved from https://www.mayoclinic.org/diseases-conditions/marfan-

syndrome/symptoms-causes/syc-20350782

[Johns hopkins hospital]. (n.d.). Retrieved from https://www.hopkinsmedicine.org/usnews/index.html

Johns Hopkins Medicine. (2015, November 30). #TomorrowsDiscoveries: therapy for aortic aneurysms—Dr. Hal Dietz [Video file].

Retrieved from https://www.youtube.com/watch?v=nw6kJiwDyHk

Marfan syndrome [Photograph]. (n.d.). Retrieved from https://www.marfan.org/about/signs

Microscopic study of the lining epithelium of the trachea [Photograph]. (n.d.). Retrieved from

http://stevegallik.org/histologyolm_Ch02_P03.html

Milewicz, D. M., Dietz, H. C., & Miller, C. (2005). Treatment of aortic disease in patients with Marfan syndrome. Circulation, 111(11),

e150-e157. https://doi.org/10.1161/01.CIR.0000155243.70456.F4
 Works Cited (Continued)

Muscle tissue [Photograph]. (n.d.). Retrieved from https://www.kenhub.com/en/start/c/muscle-tissue

[Nervous tissue under a microscope (400x)]. (n.d.). Retrieved from http://www.austincc.edu/histologyhelp/tissues/tx_nerv_tis.html

Organization of connective tissue [Photograph]. (n.d.). Retrieved from https://ohiostate.pressbooks.pub/vethisto/chapter/3-organization-of-

connective-tissue/

Thinking and awareness [Photograph]. (n.d.). Retrieved from http://www.brainfacts.org/thinking-sensing-and-behaving/thinking-and-

awareness?page=2

Toner, L. (n.d.). 8 proven ways to grow brand awareness -- fast [Photograph]. Retrieved from https://blog.hubspot.com/marketing/14-

ideas-to-grow-brand-awareness-at-lightning-speed
 Works Cited (Continued)

Umea university. (2019, February 11). [Double helix]. Retrieved from https://phys.org/news/2019-02-motor-enzyme-genome-

mechanisms.html

von Kodolitsch, Y., De Backer, J., Schüler, H., Bannas, P., Behzadi, C., Bernhardt, A. M., Hillebrand, M., Fuisting, B., Sheikhzadeh, S.,

Rybczynski, M., Kölbel, T., Püschel, K., Blankenberg, S., … Robinson, P. N. (2015). Perspectives on the revised Ghent criteria for

the diagnosis of Marfan syndrome. The application of clinical genetics, 8, 137-55. doi:10.2147/TACG.S60472