Etrurians vs Greeks: May ACE I/D polymorphism still be considered as a marker of susceptibility to SSc?

Objective: SSc is characterized by immune dysfunction and microvascular involvement. A different genetic background may determine a different polymorphic allele frequency between different populations, and data from literature reported conflicting results about the role of genetic components in predisposing to the disease. We carried out this study in order to compare the ACE I/D polymorphism genotype distribution and alleles frequency in two different populations from the Mediterranean area.

Hypertrophic cardiomyopathy in systemic sclerosis. A report of two cases.

We describe two patients with diffuse systemic sclerosis (SSc) where the echocardiogram revealed asymmetric hypertrophy of the interventricular septum with signs of subaortic obstruction consistent with hypertrophic obstructive cardiomyopathy. Hypertrophic cardiomyopathy is associated with the human lymphocyte antigen (HLA DR3), and this may provide a possible link with SSc, as this HLA phenotype is common in the latter condition. However, further studies should examine whether a true association exists.