Neonatal Marfan syndrome
Participants needed for Neonatal Marfan syndrome study.
Neonatal Marfan syndrome (nMFS), also termed as ‘early onset’ or ‘rapidly progressive’ MFS, represents the most severe features of MFS in early childhood. It is a rare condition relative to classic MFS.
Early identification through genetic testing, can improve the diagnosis of this severe condition and determine an effective treatment plan and early surgical management to save and prolong the patient’s life.
Neonatal Marfan Syndrome Study
Dr. Dianna Milewicz and Alana Cecchi, MS, CGC, at the University of Texas Health Science Center at Houston are looking for individuals with neonatal or infantile Marfan syndrome who are interested in participating in a research study looking at the medical complications of neonatal Marfan syndrome, including poor weight gain and appetite.
Who is eligible?
Individuals who have all of the following:
Diagnosis of neonatal Marfan syndrome (also referred to as infantile or early-onset Marfan syndrome) given by a geneticist or cardiologist.
Cardiac or heart valve disease diagnosed within the first year of life, usually affecting the mitral or tricuspid valves.
FBN1 gene mutation, with above criteria met.
Participation involves:
Review of your child’s medical history and medical records.
Completing a 3-day food diary for your child.
No travel required.
Contact for more information: Alana Cecchi at MAC@uth.tmc.edu (preferred) or 713-500-7072.