Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for atrioventricular septal defect 4 is limited due to its rarity and the recent identification of its genetic basis. Conditions like AVSD4 affect a small number of individuals, which restricts the scope of systematic clinical studies. As research continues, there is hope for more comprehensive understanding and characterization of the clinical features associated with this condition.
To navigate atrioventricular septal defect 4, consider consulting a cardiologist with expertise in congenital heart defects, particularly those familiar with genetic conditions. Genetic counseling is also recommended to discuss the implications of GATA4 mutations for you and your family. While there are currently no specific patient organizations for AVSD4, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, seeking out a genetic counselor can help you understand testing options and family planning.
Actionable guidance for navigating care for atrioventricular septal defect 4
To navigate atrioventricular septal defect 4, consider consulting a cardiologist with expertise in congenital heart defects, particularly those familiar with genetic conditions. Genetic counseling is also recommended to discuss the implications of GATA4 mutations for you and your family. While there are currently no specific patient organizations for AVSD4, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, seeking out a genetic counselor can help you understand testing options and family planning.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for atrioventricular septal defect 4 is limited due to its rarity and the recent identification of its genetic basis. Conditions like AVSD4 affect a small number of individuals, which restricts the scope of systematic clinical studies. As research continues, there is hope for more comprehensive understanding and characterization of the clinical features associated with this condition.
To navigate atrioventricular septal defect 4, consider consulting a cardiologist with expertise in congenital heart defects, particularly those familiar with genetic conditions. Genetic counseling is also recommended to discuss the implications of GATA4 mutations for you and your family. While there are currently no specific patient organizations for AVSD4, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, seeking out a genetic counselor can help you understand testing options and family planning.
Actionable guidance for navigating care for atrioventricular septal defect 4
To navigate atrioventricular septal defect 4, consider consulting a cardiologist with expertise in congenital heart defects, particularly those familiar with genetic conditions. Genetic counseling is also recommended to discuss the implications of GATA4 mutations for you and your family. While there are currently no specific patient organizations for AVSD4, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, seeking out a genetic counselor can help you understand testing options and family planning.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for atrioventricular septal defect 4 is limited due to its rarity and the recent identification of its genetic basis. Conditions like AVSD4 affect a small number of individuals, which restricts the scope of systematic clinical studies. As research continues, there is hope for more comprehensive understanding and characterization of the clinical features associated with this condition.
To navigate atrioventricular septal defect 4, consider consulting a cardiologist with expertise in congenital heart defects, particularly those familiar with genetic conditions. Genetic counseling is also recommended to discuss the implications of GATA4 mutations for you and your family. While there are currently no specific patient organizations for AVSD4, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, seeking out a genetic counselor can help you understand testing options and family planning.
Actionable guidance for navigating care for atrioventricular septal defect 4
To navigate atrioventricular septal defect 4, consider consulting a cardiologist with expertise in congenital heart defects, particularly those familiar with genetic conditions. Genetic counseling is also recommended to discuss the implications of GATA4 mutations for you and your family. While there are currently no specific patient organizations for AVSD4, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, seeking out a genetic counselor can help you understand testing options and family planning.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.