Understanding Marfan Syndrome: A Genetic Heart Condition

a day a focus on a genetic heart condition that affects an estimated 50 thousand americans both men and women

equally here is how doctors identify and help patients fight this potentially deadly condition

ready when tara cortez's husband ozzy was diagnosed with marfan syndrome in 2015

the couple wasn't actually that surprised it wasn't a shocker it was more

like it was just a confirmation their oldest son zayden also tested positive for the same gene mutation

their youngest son xavier did not when we decided to have children we knew there was a 50 50 chance of them

coming out with marfan syndrome but it was a risk we were willing to take dr roman yusupov medical geneticist

and director of the marfan clinic at joe dimaggio children's hospital says the condition is a connective

tissue disorder that can cause an enlargement of the aorta and you don't know about it because you

don't have any symptoms but unfortunately it may create an aneurysm and it can

rupture causing sudden death the doctor says marfan syndrome happens in one out of

every 20 000 births equally in all races and ethnic groups

if there is family history genetic testing can be done even prenatally or newborn baby

but frequently we discover that somebody may have marfan syndrome uh after about five years of age or

older in adolescence that's when the external signs of marfan syndrome become more evident

including long limbs so i'm bigger than every other seven-year-old ozzy has gone

through four open-heart surgeries and he and tara are hoping that early intervention

will help zayden avoid similar serious complications at seven his aorta is already large

at five it was the size of a twelve-year-old along with routine doctor visits and diagnostic testing

zayden takes daily medication to slow down the growth of his aorta i have to take medicine every day and i

put my pills in my chocolate because my pills taste very nasty we're trying to stop all the

things that dad has had to go through but she's lucky to be here today

we're trying to stop all those things from happening to our son and research that could lead to a cure

for marfan syndrome is advancing rapidly thanks in part to money raised for research during

the annual marfan walk in may local 10 always participates in that so to find out more on how to support

that effort look for this story in the health section of local 10.com