The John Ritter Foundation and Olivia Petrera-Cohen’s family invite you to join the “Love for Livie Legacy Benefit” on November 3rd, 2017 at Lavo in NYC. All proceeds from this benefit will be used to fund research on the disease that took Olivia from her family a month before her second birthday.

Olivia had a rare disease called Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS), a disease described a few years ago by Dr. Milewicz and her research group at the UTHealth John Ritter Research Program. It is our hope that sweet, brave, beautiful Livie’s spirit and legacy will live on in this effort to help other children with this disease.

For more information on MSMDS, or to support Livie’s legacy by attending the benefit or making a donation go to loveforlivie.org



Amy Yasbeck and Dr. Dianna Milewicz were on Good Day LA the weekend of the 2017 LA marathon, raising awareness and discussing aortic disease to combat the continued toll this disease takes. Watch the video clip here.

St. Patrick’s day weekend is a big one for Team Ritter. We have two opportunities for LA to show us some Team Ritter spirit.

Event 1: Team Ritter is participating in the LA Marathon on March 19th. Help us support and cheer the team on!

Read about  our Team Ritter champions at this link.

Event 2: Also on March 19th is the 7th annual Adler Paddler in Long Beach, a FREE race in memory of SoCal racer Steve Adler who passed away from a thoracic aortic dissection. Read about the event and register for free here.

Click here to apply!

The John Ritter Foundation (JRF) is proud to announce it has been selected as an official charity of the TCS New York City Marathon to take place on Sunday, November 5, 2017.  We are honored to have been chosen once again.

We are looking for a team of people who are passionate about increasing awareness of aortic dissection and its risk factors, committed to raising money to support our mission, and who want to train for and run the marathon.  Here is what some past Team Ritter runners had to say about the experience:

“You have to do it!  Great race. Great Team.”

“Hands down — absolutely go for it!!!  It is a fabulous experience running the NYC marathon and working with the JRF team is great.  It’s a rewarding experience and if you have a passion for aortic disease, raising awareness and other aspects of aortic health and education, this is the organization you want to be part of!!”

If you are interested in applying for a spot on the team, please fill out an application here. Have questions?  Please send an email to info@JohnRitterFoundation.org.

If you are not a runner but would like to support Team Ritter, please send an email describing your skills or interests and how you would like to help to info@JohnRitterFoundation.org.  Donations to the JRF can also be made through our website.  Thank you for your support!

#TeamRitter

The  inaugural John Ritter Foundation Community Symposium was held on Saturday, January 14th, 2017 in the Texas Medical Center.

The half day event presented medical expert perspectives on aortic disease and is available for viewing at this link.

Alternate video livestreamed from the symposium is also available on the JRF Facebook page.

Hollywood actor, Alan Thicke, died due to an acute aortic dissection.  This is the same cause of death that led to the tragic loss of life of fellow Hollywood comedian and actor John Ritter over 13 years ago in Los Angeles.  An acute aortic dissection can mimic a heart attack and if not detected and treated emergently, nearly 40% of all incidents of aortic dissection lead to death.  Yet, many of the 25,000 people a year who die from an aortic dissection could potentially be diagnosed before the dissection and treated so a dissection is prevented.

What is an Aortic Dissection?

An aortic dissection occurs when there is a tear in the wall of the aorta, the major artery coming out of the heart. The tear allows the blood to ‘dissect’ from inside the lumen of the aorta into the wall.  As the dissection progresses, the wall is torn apart and weakened, leading to aortic rupture and sudden death.

Alan Thicke complained of chest pains while playing hockey on December 13th.  His chest pains were most likely due to the acute tear in the aorta and the following aortic dissection.  His dissected aorta ruptured three hours later, ultimately leading to his death.  Alan Thicke’s aortic rupture was caused by his aortic dissection.

How To Prevent an Aortic Dissection?

Much is written about how the flaw in the aorta that leads to dissection is “undetectable” and “untreatable.” However, many people of the 25,000 people a year who die of aortic disease can be diagnosed before the dissection, and treated so that a dissection is prevented. Typically, there is a widening or ballooning out of the aorta, called an aneurysm, before the dissection occurs.  These aneurysms progressively grow larger without symptoms.  While people can live with a growing aneurysm for years, when a dissection occurs, it often kills quickly within a matter of hours.  If the aneurysm is detected, it can be surgically repaired to prevent a dissection.

The aorta is the main vessel that sends blood away from the heart to the rest of the body. It is shaped like a candy cane and is typically about as wide as a garden hose (2.5-3.5 cm). When blood is pumped by the heart, it first travels through the aorta.  An aortic aneurysm is a widening, bulging, or ballooning out of a portion of the aorta. Aneurysms usually occur where there is a weak spot in the aortic wall.

What Are the Risk Factors  For Aortic Aneurysms and Dissections?

There are several factors that can increase the risk of dissection, including genetic and environmental influences:

Genetic factors can increase the risk for aortic disease.  If you have a family member who has had an aortic dissection, this is a red flag that other family members may also be at risk for an aortic dissection.  After John Ritter’s death, his family members had imaging to determine if they had an undetected aneurysm.  It was found that John’s brother did have an aneurysm. He had it surgically repaired, and is alive and well today. Had he not taken preventative measures, the chances for aortic dissection were considerably high.

Genetic syndromes like Marfan, Loeys-Dietz and vascular Ehlers Danlos syndrome can predispose to aortic dissection.

Environmental factors that increase the chance to develop an aortic aneurysm or dissection include the following:

To learn more about the different types of genetic risks, review the Ritter Rules.

Email info@johnritterfoundation.org with any questions/requests

About The John Ritter Foundation for Aortic Health:

Founded in October 2003, just weeks after actor John Ritter’s sudden death due to an acute aortic dissection, the foundation is dedicated to improving the identification of individuals at risk for aortic dissections and the treatment of thoracic aortic disease through medical research. The foundation also seeks to provide accurate information to the general public about the disease and its risk factors, along with support to individuals who have thoracic aortic disease or have lost a loved one to the disease.  

The John Ritter Research Program got off to a great start this year. Two months into 2016, the group has already published new research identifying two new genes  for aortic disease. Your contributions to support the research program are instrumental in making this rapid pace of research possible. A brief description of these papers follows.

1. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

Published in: The Journal of  Clinical Investigation. 2016 Feb 8. pii: 83778. doi: 10.1172/JCI83778. [Epub ahead of print]

Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM.

The ascending thoracic aorta is designed to withstand biomechanical forces from pulsatile blood. Thoracic aortic aneurysms and acute aortic dissections (TAADs) occur as a result of genetically triggered defects in aortic structure and a dysfunctional response to these forces. Here, we describe mutations in the forkhead transcription factor FOXE3 that predispose mutation-bearing individuals to TAAD. We performed exome sequencing of a large family with multiple members with TAADs and identified a rare variant in FOXE3 with an altered amino acid in the DNA-binding domain (p.Asp153His) that segregated with disease in this family. Additional pathogenic FOXE3 variants were identified in unrelated TAAD families. In mice, Foxe3 deficiency reduced smooth muscle cell (SMC) density and impaired SMC differentiation in the ascending aorta. Foxe3 expression was induced in aortic SMCs after transverse aortic constriction, and Foxe3 deficiency increased SMC apoptosis and ascending aortic rupture with increased aortic pressure. These phenotypes were rescued by inhibiting p53 activity, either by administration of a p53 inhibitor (pifithrin-α), or by crossing Foxe3-/- mice with p53-/- mice. Our data demonstrate that FOXE3 mutations lead to a reduced number of aortic SMCs during development and increased SMC apoptosis in the ascending aorta in response to increased biomechanical forces, thus defining an additional molecular pathway that leads to familial thoracic aortic disease.

2. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Published in: Circulation Research. 2016 Jan 12. pii: CIRCRESAHA.115.307130. [Epub ahead of print]

Guo D, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera AL, Safi HJ, Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM.

RATIONALE: Mutations in several genes have been identified that are responsible for approximately 25% of families with familial thoracic aortic aneurysms and dissections (TAAD). However, the causative gene remains unknown in 75% of families.

OBJECTIVE: To identify the causative mutation in families with autosomal dominant inheritance of TAAD.

METHODS AND RESULTS: Exome sequencing was used to identify the mutation responsible for a large family with TAAD. A heterozygous rare variant, c.839G>T (p.Ser280Arg), was identified in LOX, encoding a lysyl oxidase, that segregated with disease in the family. Sanger and exome sequencing was performed to investigate mutations in candidate genes in an additional 410 probands from unrelated families. Additional LOX rare variants that segregated with disease in families were identified, including c.125G>A (p.Trp42*), c.604G>T (p.Gly202*), c.743C>T (p.Thr248Ile), c.800A>C (p.Gln267Pro), and c.1044T>A (p.Ser348Arg). The altered amino acids cause haploinsufficiency for LOX or are located at a highly conserved LOX catalytic domain, which is relatively invariant in the population. Expression of the LOX variants p.Ser280Arg and p.Ser348Arg had significantly lower lysyl oxidase activity when compared with the wild type protein. Individuals with LOX variants had fusiform enlargement of the root and ascending thoracic aorta, leading to ascending aortic dissections.

CONCLUSIONS: These data, along with previous studies showing the deficiency of LOX in mice or inhibition of lysyl oxidases in turkeys and rats causes aortic dissections, support the conclusion that rare genetic variants in LOX predispose to thoracic aortic disease.

ACTA2 mutations are responsible for disease in approximately 20% of families with thoracic aortic aneurysms and dissections(TAAD).  Dr. Milewicz directs the John Ritter Research Program and her research group identified ACTA2 as a gene that causes TAAD in 2009. The Milewicz group has now published an analysis of clinical data collected from a large group of people (close to 300) who have ACTA2 mutations. This information is important  in medical management of patients with ACTA2 mutations. The publication can be accessed by clicking on the article “Aortic Disease Presentation and Outcome Associated with ACTA2 Mutations” available here.

Questions? Email us at info@johnritterfoundation.org or info@johnritterresearchprogram.org

We are proud of the research being performed at the John Ritter Research Program. Check out the research group’s 21 publications for 2014 and acknowledgement of your support here.

Your philanthropic contributions and participation make a difference. When everyone gets involved, we can do more.

To learn more about getting involved by participating in research, visit the Resources page or visit www.JohnRitterResearchProgram.org.

Download a copy of the research study brochure here.

To help by donating to the John Ritter Foundation click here.

Dianna M. Milewicz, MD, PhD and Frank R. Arko III, MD talk about raising awareness for aortic disease and the future of research on this disease. They reiterate the goals of the John Ritter Foundation for Aortic Health and discuss the diagnosis of aortic disease in both non-emergency and emergency settings. Read this insightful article here.