Familial calcification of aorta and calcific aortic valve disease associated with immunologic abnormalities

Am Heart J. 1993 Oct;126(4):904-9. doi: 10.1016/0002-8703(93)90705-e.

Abstract

We report three patients of the same family with linear calcification of the ascending aorta, severe calcific mixed aortic valve disease associated with increased levels of globulins, lambda-chain gammopathy, an increased T4/T8 lymphocyte ratio, and other immunologic abnormalities. None of the patients had syphilis, atherosclerosis, abnormalities of calcium or phosphorus metabolism, lymphadenopathy, or other systemic diseases. It is postulated that these cases and some previously reported in the literature as idiopathic represent a distinct pathologic entity, familial or sporadic, in which localized vascular and valvular calcific disease is associated with an underlying immunologic disorder or autoimmune process.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Aorta
  • Aortic Diseases / diagnosis
  • Aortic Diseases / genetics*
  • Aortic Diseases / immunology
  • Aortic Valve Insufficiency / diagnosis
  • Aortic Valve Insufficiency / genetics*
  • Aortic Valve Insufficiency / immunology
  • Aortic Valve Stenosis / diagnosis
  • Aortic Valve Stenosis / genetics*
  • Aortic Valve Stenosis / immunology
  • Autoimmune Diseases / diagnosis
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / immunology
  • CD4-CD8 Ratio
  • Calcinosis / diagnosis
  • Calcinosis / genetics*
  • Calcinosis / immunology
  • Female
  • Humans
  • Hypergammaglobulinemia / diagnosis
  • Hypergammaglobulinemia / genetics*
  • Hypergammaglobulinemia / immunology
  • Immunoglobulin Light Chains*
  • Male
  • Middle Aged
  • Pedigree

Substances

  • Immunoglobulin Light Chains