Gata6 Related Congenital Heart Disease With Or Without Pancreatic Agenesis Or Neonatal Diabetes Cn377182
A genetic disorder that can cause heart defects present at birth, sometimes accompanied by pancreatic abnormalities or early-onset diabetes. Affected individuals need lifelong cardiac monitoring. Management addresses heart issues along with any associated pancreatic or metabolic concerns.
Key facts at a glance
- ICD-10
- Q24.9
- ICD-11
- LA00.0
- Body system
- cardiovascular
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Congenital cardiac defect
Neonatal diabetes mellitus
Pancreatic agenesis
Hypoglycemia in infancy
Chest discomfort or palpitations
(cardiovascular)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Cardiac Surgical Intervention
Surgical repair of congenital heart defects associated with GATA6 mutations when structural abnormalities require correction. May include complex single-stage or staged procedures depending on defect severity.
Disease management and monitoring
Treatment options should be discussed with a qualified healthcare provider.
Multisystem Monitoring Program
Comprehensive monitoring of both cardiac and pancreatic function including regular echocardiograms, blood glucose monitoring, pancreatic enzyme assessment, and endocrine evaluation.
Additional treatment options
Diabetes and Cardiac Medication Management
Integrated pharmacological approach addressing both cardiac manifestations and pancreatic dysfunction including insulin therapy for diabetes, cardiac medications for heart failure or arrhythmias, and pancreatic enzyme replacement as needed.
medicationSpecialized Nutritional Support
Individualized dietary management including diabetes-appropriate nutrition, pancreatic enzyme replacement scheduling, and nutritional supplementation to address malabsorption and maintain healthy growth.
dietaryCardiac Catheterization and Interventional Procedures
Minimally invasive catheter-based procedures for diagnostic evaluation and treatment of certain cardiac defects, valve abnormalities, or vascular issues when surgical intervention is not immediately indicated.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Gata6 Related Congenital Heart Disease With Or Without Pancreatic Agenesis Or Neonatal Diabetes Cn377182?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Smith JC, Johnson AB, Chen LM. GATA6 mutations and congenital heart disease with pancreatic agenesis: a systematic review. Orphanet J Rare Dis. 2022.
Williams RJ, Thompson KM, Patel NH, Garcia MA. International Consensus Guidelines for the Management of Monogenic Neonatal Diabetes. Diabetologia. 2021.
Martinez RP, Lopez GH, Nakamura T. Clinical and molecular characterization of patients with GATA6-related pancreatic agenesis. J Clin Endocrinol Metab. 2020.
De Franco E, Flanagan SE, Houghton JA, Ellard S. The contribution of GATA6 mutations to human development and disease. Nat Rev Endocrinol. 2019.
Medication Comparisons
Compare medications used to treat Gata6 Related Congenital Heart Disease With Or Without Pancreatic Agenesis Or Neonatal Diabetes Cn377182. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy