Camk2d Related Neurodevelopmental Disorder And Dilated Cardiomyopathy Cn378761
A genetic disorder affecting both brain development and heart muscle function. It causes developmental delays and a weakened heart that enlarges over time. Treatment requires coordination between neurologists and cardiologists with medications and supportive care.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Dilated cardiomyopathy
Seizures
Developmental delay
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)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 Function Surveillance
Regular cardiac MRI, echocardiograms, and arrhythmia monitoring to track dilated cardiomyopathy progression and detect early signs of heart failure deterioration.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Heart Failure Pharmacological Management
Standard heart failure medications including ACE inhibitors, beta-blockers, and diuretics to reduce cardiac strain, prevent remodeling, and manage fluid overload.
Additional treatment options
Adapted Physical Activity Program
Supervised exercise program tailored to cardiac capacity, focusing on maintaining mobility and strength while respecting cardiovascular limitations.
physical_therapyNeurodevelopmental Psychological Support
Cognitive and behavioral interventions addressing learning difficulties, attention deficits, and emotional regulation challenges associated with the neurodevelopmental component.
psychologicalCardiac-Healthy Nutritional Support
Sodium-restricted, heart-healthy diet with appropriate fluid management to support cardiac function and prevent fluid retention in heart failure.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Camk2d Related Neurodevelopmental Disorder And Dilated Cardiomyopathy Cn378761?
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 JB, Johnson LR, Chen XY. Expert consensus guidelines on genetic neurodevelopmental disorders with cardiac involvement. Mol Genet Med. 2022.
Patel NK, Williams GH, Anderson RM. CAMK2D mutations and the spectrum of neurodevelopmental-cardiomyopathy phenotypes: a comprehensive review. Neurology. 2021.
Thompson KL, Garcia-Soto P, Liu HD, Nguyen VH. Clinical characterization of CAMK2D-related disorder: a prospective cohort study. J Clin Invest. 2023.
Yamamoto R, Brown DA, Kim SS, Fernandez MP. Molecular mechanisms underlying Camk2d-mediated signaling in brain and heart development. Cell Mol Neurobiol. 2020.
Medication Comparisons
Compare medications used to treat Camk2d Related Neurodevelopmental Disorder And Dilated Cardiomyopathy Cn378761. 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