Genetics and biomarkers in congenital heart disease l.jpg
This presentation is the property of its rightful owner.
Sponsored Links
1 / 12

Genetics and Biomarkers in Congenital Heart Disease PowerPoint PPT Presentation


  • 89 Views
  • Uploaded on
  • Presentation posted in: General

Genetics and Biomarkers in Congenital Heart Disease. SSA Conference, November 9, 2010. Allen D. Everett, MD Associate Professor, Pediatric Cardiology Helen B. Taussig Children’s Congenital Heart Center. Translating Congenital Heart Disease for the Non-Cardiologist.

Download Presentation

Genetics and Biomarkers in Congenital Heart Disease

An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -

Presentation Transcript


Genetics and biomarkers in congenital heart disease l.jpg

Genetics and Biomarkers in Congenital Heart Disease

SSA Conference, November 9, 2010

Allen D. Everett, MD

Associate Professor, Pediatric Cardiology

Helen B. Taussig Children’s Congenital Heart Center


Translating congenital heart disease for the non cardiologist l.jpg

Translating Congenital Heart Disease for the Non-Cardiologist

This is a difficult task but I hope to better than this translation:


Genetics of congenital heart disease l.jpg

Genetics of Congenital Heart Disease


Genetics of congenital heart disease4 l.jpg

Genetics of Congenital Heart Disease

Syndromic-Congenital heart disease associated with other defects such as brain, liver, etc. Uncommon, and tend to be single gene defects

Noonan’s (CHD, hematologic, neurologic) PTPN11

Alagille’s (CHD, liver disease) JAG1

Holt-Oram (CHD, skeletal defects) TBX5


Genetics of congenital heart disease5 l.jpg

Genetics of Congenital Heart Disease

  • Non-syndromic-Congenital heart disease alone. Sporadic and common.

    • Incidence of gene mutations is low. In Hypoplastic left heart syndrome, the incidence of mutations in NKX2.5, NOTCH1, HAND1 and GJA1 is 2%.

  • Therefore occurrence is related to multifactoral inheritance of a multitude of susceptibility genes (unknown) with low penetrance mutations (being discovered) superimposed on unfavorable environmental conditions (unknown).


Slide6 l.jpg

Genetics of Congenital Heart Disease

  • Chromosomal deletions

    • 22q11: Tetralogy of Fallot, Interrupted aortic arch and Tricuspid atresia.

    • Other less common are 9q34, 1q21.1, 16p11.2 and 17p11.2.

    • The use of genomic array technologies for routine genetic screening is identifying an increasing number of chromosome microdeletions in children with CHD.


Genetics of congenital heart disease7 l.jpg

Genetics of Congenital Heart Disease

MW Wessels and PJ Willems. Clin. Genetics, 2010 78:103


Biomarkers in congenital heart disease l.jpg

Biomarkers in Congenital Heart Disease

  • Biomarker (HUPO): Used to indicate or measure a biological process (for instance, levels of a specific protein in blood or spinal fluid, genetic mutations, or brain abnormalities observed in a PET scan or other imaging test). Detecting biomarkers specific to a disease can aid in the identification, diagnosis, and treatment of affected individuals and people who may be at risk but do not yet exhibit symptoms.


Biomarkers in congenital heart disease9 l.jpg

Biomarkers in Congenital Heart Disease

  • Classic example is measurement of specific heart muscle proteins (troponin I) released into the circulation after a myocardial infarction.

  • The heart also secretes hormones into the circulation when the workload of the heart is excessive.

    • Brain naturetic peptide (BNP)


Biomarkers in congenital heart disease10 l.jpg

Biomarkers in Congenital Heart Disease

  • BNP

    • Shown to be a significant diagnostic measure of heart failure in adults

    • In patients with pulmonary hypertension, a significant predictor of sudden death

    • In children with CHD a potential indicator of poor heart function and recovery after heart surgery

    • In the non-surgical setting the levels are so high in children with CHD that they have little value.

    • May be useful in detecting transplant rejection.


Biomarkers in congenital heart disease11 l.jpg

Biomarkers in Congenital Heart Disease

  • Brain Injury Biomarkers

    • 36-60% of neonates having surgery for CHD will have evidence of new brain injury on MRI

    • Peri-operative brain injury is the most significant morbidity of CHD repair. The average Psychomotor Development Index score after CHD repair is 85, with normal 100.

    • Identification of circulating brain specific proteins released with injury (similar to what happens with a myocardial infarction) will help improve and standardize perioperative care to reduce brain injury.


Translating congenital heart disease for the non cardiologist12 l.jpg

Translating Congenital Heart Disease for the Non-Cardiologist

I hope my translation came out better than this:


  • Login