CARDIOVASCULAR DISEASE AND INCREASED PREVALENCE OF MORBIDITY AND MORTALITY IN MARFAN SYNDROME
CARDIOVASCULAR DISEASE AND INCREASED PREVALENCE OF MORBIDITY AND MORTALITY IN MARFAN SYNDROME

Summary/Abstract: Marfan syndrome is an autosomal dominantly transmitted genetic abnormalitydue to a mutation in the FBN1 gene on chromosome 15, which encodes fibrillin-1 glycoprotein, component of the extracellular matrix, leading to the formation of abnormal connective tissue. The changes that occur due to abnormal connective tissue led to multisystemic implications, it should be noted that cardiovascular damage is the major cause of morbidity and mortality. The prevalence in Marfan syndrome is 1 in 5000 / 10,000 live births, not differentiated by sex. Genetic diagnosis, an essential part of the Ghent criteria for diagnosing Marfan syndrome, is based on the identification of the FBN1 gene, located on the short arm of chromosome 15q21.1. The essentialpillarinthe effective managementof Marfan syndrome isthe diagnosis,monitoring and therapeutic intervention of cardiovascular damage represented by mitral valve prolapse, mitral regurgitation, aortic dilation, aortic aneurism and aortic dissection. The progress of contemporary medicine in the field of cardiology has led to an increase in life expectancy in patients with Marfan syndrome.

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