Isolated subaortic stenosis is a disease with unknown etiology. Although familial clusters of the disease suggest a genetic basis, a consistent mode of inheritance was not found. The current treatments are not satisfactory. We interrogated the possibility of an autoimmune basis. As autoimmune disease frequently appear together in a patient or relatives, we studied association between isolated subaortic stenosis and autoimmune disease in a cohort of 14 patients.
History of common autoimmune disease in the patient or relatives, thorough physical examination, and laboratory test (fluorescent antinuclear antibody, antibody against double-strand deoxyribonucleic acid, rheumatoid factor, anti-thyroid peroxidase antibodies, tissue transglutaminase, and anti-endomysial antibody were measured.
We found a patient with vitiligo and subaortic stenosis, and a patient with diabetes mellitus type I among the relatives of the patients. All laboratory test results were normal or borderline.
In conclusion, we found weak evidences for an association between isolated subaortic stenosis and autoimmune disease. Further studies are required to interrogate this hypothesis.