Key result
Aortic dilatation and mitral regurgitation drive major morbidity and mortality in Marfan syndrome.
Why the study?
Cardiovascular involvement is variable and represents the major cause of morbidity and mortality in Marfan syndrome.
This review provides a comprehensive description of cardiovascular manifestations, genotype-phenotype correlations, and assessment of cardiovascular abnormalities in Marfan syndrome.
Mandates vigilant cardiovascular surveillance in Marfan syndrome; leaves open genotype-specific risk thresholds for prospective validation.
Marfan syndrome (MFS) is an autosomal dominant inherited disease of the connective tissue with multiorgan involvement (skeleton, cardiovascular, eyes, skin, lungs). Cardiovascular involvement is variable and represents the major cause of morbidity and mortality in Marfan syndrome. We provide a comprehensive description of cardiovascular manifestations in Marfan syndrome, genotype-phenotype correlations and assessment of cardiovascular abnormalities and complications.
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Lazea et al. (2021) conducted a review in Marfan syndrome. Cardiovascular manifestations, primarily aortic dilatation and mitral regurgitation, are highly variable and represent the major cause of morbidity and mortality in Marfan syndrome.
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