Human Genetics of Atrial Septal Defect

Area of Science:

• Human Genetics
• Cardiovascular Diseases
• Developmental Biology

Background:

• Atrial septal defects (ASD) are classified by location, but genetic distinctions are vital.
• Differentiating isolated/familial ASD from syndromic ASD with extracardiac features is key for genetic counseling.

Purpose of the Study:

• To review current knowledge on genetic alterations in different ASD subtypes.
• To highlight associations between genetic factors and ASD pathogenesis.
• To provide an overview of genetic alterations in isolated, familial, and syndromic ASD.

Main Methods:

• Review of human genetics studies.
• Analysis of genome-wide association studies (GWAS).
• Examination of genetic alterations in cardiac transcription factors and sarcomeric proteins.

Main Results:

• Isolated/familial ASD often involve genes for cardiac transcription factors and sarcomeric proteins.
• Syndromic ASD show diverse genetic alterations across various pathways.
• Stable genetic associations and frequently observed syndromes linked to ASD pathogenesis are identified.

Conclusions:

• Genetic analysis is essential for classifying ASD subtypes.
• Understanding genetic pathways in cardiomyogenesis aids in ASD pathogenesis research.
• Genetic counseling requires distinguishing between syndromic and non-syndromic ASD forms.