Autoimmune polyendocrine syndrome with atrial septal defect

Area of Science:

• Endocrinology
• Cardiology
• Genetics

Background:

• Atrial septal defects (ASDs) are commonly associated with genetic syndromes.
• Autoimmune polyendocrine syndrome (APS) is a group of rare genetic disorders characterized by autoimmune endocrine and non-endocrine diseases.
• The co-occurrence of ASD and APS has not been previously documented in medical literature.

Observation:

• A 44-year-old woman was diagnosed with autoimmune polyendocrine syndrome type II.
• The patient exhibited symptomatic and laboratory-confirmed celiac disease, Hashimoto thyroiditis, and Sjögren syndrome.
• She also had a positive anti-glutamic acid decarboxylase antibody, indicating a risk for type-1 diabetes, though she remained asymptomatic.

Findings:

• The patient had a history of sinus venosus type atrial septal defect, diagnosed at age 38.
• The atrial septal defect was discovered during an investigation for symptoms of tiredness and chest pain.
• This case presents the first reported instance of concomitant autoimmune polyendocrine syndrome type II and atrial septal defect.

Implications:

• This finding suggests a potential, previously unrecognized link between autoimmune polyendocrine syndrome and congenital heart defects like ASD.
• Further research is warranted to explore the underlying mechanisms and genetic factors that may contribute to this association.
• Clinicians should consider screening for cardiac abnormalities in patients diagnosed with autoimmune polyendocrine syndrome, and vice versa.