And so begins the story of Gianmarco and his father, a story about a rare disease, family inheritance and diagnostic odyssey.
Gianmarco and his father have Marfan syndrome (MFS), a syndrome that is caused by a mutation in a gene, FBN1, the one that makes fibrillin. This mutation results in abnormal connective tissue because the protein doesn’t fulfill its function and the greatest risk is to have problems like the enlargement of the aorta. About 75% of the time, the condition is inherited from a parent with the condition [1].
The odyssey for this family began with the grandfather at the beginning of 1900’s. The grandfather was diagnosed too late because at the time the syndrome was almost unknown, so the symptoms ended up in a report but no one gave him a diagnosis.
The diagnostic criteria of MFS were agreed upon internationally in 1996 [2].
Fulvio, Gianmarco’s father, didn’t know that he had inherited this syndrome even though some phenotypes, such as the length of his limbs and some heart and eye problems, could have created a suspicion for his doctors. During this period the diagnostic criteria were not yet ready.
In 2000, when Gianmarco was 6 years old, a pediatrician started investigating his phenotype because he had a friend, an orthopedist, who was working on MFS and he was told about the new criteria to diagnose this rare disease. Gianmarco at the time had just 2 peculiar characteristics of Marfan Syndrome: long limbs and a slight pectus deformity. The pediatrician started to do some tests.
No sooner had the tests begun than Fulvio was rushed into surgery because his aorta was abnormally enlarged.
