A Cautionary Tale
Three months ago, a 45 year old Englishman emailed us for advice. He was diagnosed with Marfan Syndrome since childhood when his dislocated lenses were discovered. Where could he go to have his heart checked? The Marfan Trust Hotline advised GP referral to his regional genetic Marfan Syndrome clinic where a family history was taken (he was the only one affected), and a brief physical examination performed. His echocardiogram was normal, with no sign of aortic aneurysm or heart valve leakage.
Blood tests subsequently revealed no mutation/gene error in the Marfan gene for Fibrillin-1. However, a mutation was found in the gene ADAMTSL4, the commonest gene to cause dislocated lenses with no heart problem. The geneticist announced “you do not have Marfan Syndrome”, which left the patient giddy with delight. He had accepted the wrong diagnosis for 40 years.
These are other conditions which overlap with true Marfan Syndrome:
Joint Hypermobility Syndrome
Adolescent Idiopathic Scoliosis
Mitral Valve Prolapse
Pectus Deformity (pigeon chest or dip in the chest)
Tall slim body build
Aortic aneurysms of the abdominal aorta
If there are any serious doubts about the diagnosis of Marfan Syndrome, you can always ask to be referred to your regional genetic clinic for an updated genetic opinion. Your family doctor will know where the nearest regional genetic clinic is located. If not, please contact hotline 020 8725 5248 for further information.
We need your help to carry on our hotline. Without funding we can’t continue on with the work we do. If you can donate anything large or small to keep the hotline open, it would be greatly appreciated. For ways to donate visit our donation page or contact Louise Taylor on 020 8725 1189 or at firstname.lastname@example.org.