What is Marfan syndrome?

Generally, Marfan syndrome is a rare hereditary connective tissue disorder transmitted as an autosomal dominant trait. If related symptoms occur, prompt medical attention is recommended. Detailed analysis is as follows:

Marfan syndrome is a rare genetic connective tissue disease primarily caused by defects in the fibrillin-1 gene. This genetic defect leads to abnormalities in the structure and function of connective tissues, affecting multiple systems including the cardiovascular, skeletal, ocular, and respiratory systems. Additionally, this condition tends to cluster in families, with other family members often exhibiting similar symptoms.

If symptoms arise, timely medical consultation is advised to evaluate the medical history and symptoms, and to determine if there are similarly affected individuals within the family. A comprehensive assessment using various diagnostic tests should also be conducted to identify characteristic features involving the skeleton, eyes, cardiovascular system, and other related areas.

In daily life, it is recommended that individuals with Marfan syndrome seek early diagnosis, follow standardized treatment protocols, undergo regular monitoring, and actively prevent complications, which can help improve their quality of life.