Cardiac Genetics
14 views | +0 today
Follow
Your new post is loading...
Your new post is loading...
Scooped by Tricia S
Scoop.it!

NBA prospect has career-ending condition

Former Baylor star Isaiah Austin has been diagnosed with a serious medical condition and will not be able to pursue a career in the NBA, the school announced Sunday.
Tricia S's insight:

Basketball star diagnosed with Marfan syndrome. 

more...
No comment yet.
Scooped by Tricia S
Scoop.it!

Double or compound sarcomere mutations in hyper... [Heart Rhythm. 2012] - PubMed - NCBI

pub med article link

 

Tricia S's insight:

double mutations can confer gene dosage effect in HCM; predispose to adverse event. 

more...
No comment yet.
Scooped by Tricia S
Scoop.it!

Genomics|Resources|Video on familial hypercholesterolemia

Genomics|Resources|Video on familial hypercholesterolemia | Cardiac Genetics | Scoop.it
Tricia S's insight:

CDC podcast on familial hypercholesterolemia

more...
No comment yet.
Scooped by Tricia S
Scoop.it!

Truncations of titin causing dilated cardiomyop... [N Engl J Med. 2012] - PubMed - NCBI

Truncations of titin causing dilated cardiomyop... [N Engl J Med. 2012] - PubMed - NCBI | Cardiac Genetics | Scoop.it
PubMed comprises more than 22 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Tricia S's insight:

TTN truncating mutations in 25% of familial DCM and 18% of sporadic DCM; free pubmed article

more...
No comment yet.
Scooped by Tricia S
Scoop.it!

Mayo Clinic - Sports Guidelines for Long QT Syndrome Patients May Be Too Strict, Mayo Clinic Finds

Mayo Clinic - Sports Guidelines for Long QT Syndrome Patients May Be Too Strict, Mayo Clinic Finds | Cardiac Genetics | Scoop.it
Tricia S's insight:

Long QT and exercise guidelines

more...
Tricia S's comment, June 20, 2013 11:37 AM
Of note, "If the patient chose to continue competitive athletics, the decision had to be agreed on by the physician, the patient, and both parents, depending on the patient's age. In addition to the patient's treatment, such as medications, each athlete obtained an automated external defibrillator, and the athlete's school officials and coaches were notified."
Scooped by Tricia S
Scoop.it!

Scientists hoping to ease interpretation of the DNA ‘book of life’ - The Boston Globe

Scientists hoping to ease interpretation of the DNA ‘book of life’ - The Boston Globe | Cardiac Genetics | Scoop.it
The public tends to see DNA as holding almost-mystical power to inform us about what treatments to take or what diseases to guard against. But in reality, interpreting a healthy person’s genome with the current tools and understanding of human genetics is tricky.
Tricia S's insight:

Good graphic to use for counseling about VUS and HCM. 

more...
No comment yet.
Scooped by Tricia S
Scoop.it!

Familial hypercholesterolaemia is underdiagnosed... [Eur Heart J. 2013] - PubMed - NCBI

PubMed comprises more than 23 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Tricia S's insight:

new paper on FH.  says incidence is 1/200 and
not 1/500

also, new genereview on FH available as well: http://www.ncbi.nlm.nih.gov/books/NBK174884/

more...
No comment yet.
Scooped by Tricia S
Scoop.it!

The Familial Hypercholesterolemia Summit 2013

Tricia S's insight:

FH Summit in Annapolis, MD -- Sept 19th, 2013.  sponsored by FH foundation. 

more...
No comment yet.
Scooped by Tricia S
Scoop.it!

European Society of Cardiology launches AF patient website - PMLiVE

European Society of Cardiology launches AF patient website - PMLiVE | Cardiac Genetics | Scoop.it
European Society of Cardiology launches AF patient website http://t.co/mH9NOSWsrY
Tricia S's insight:

website: http://www.afibmatters.org/

more...
No comment yet.
Scooped by Tricia S
Scoop.it!

When in Doubt, Kick them Out? Long QT Syndrome Sports Guidelines

In a video originally posted on www.theheart.org, Mayo Clinic cardiologist Douglas Packer, M.D., and Michael Ackerman, M.D., Ph.D., cardiologist and Director...
Tricia S's insight:

YouTube video on exercise limitations and long QT.  (Mayo experience)

 

more...
No comment yet.
Scooped by Tricia S
Scoop.it!

Seeking Clues to a Heart Killer in the DNA Binding a Family

Seeking Clues to a Heart Killer in the DNA Binding a Family | Cardiac Genetics | Scoop.it
Scientists are studying the DNA of the Del Sontro family for mutations or aberrations, hoping to see if genetics can explain why heart disease strikes apparently healthy people.
more...
Tricia S's comment, May 20, 2013 10:35 AM
Family is part of study at NIH with Dr. Leslie Biesecker (likely WGS)