Attrv122i Amyloidosis C4275067
A hereditary condition where abnormal proteins build up in the heart, causing it to thicken and stiffen over time. It primarily affects older adults. Treatment focuses on managing heart symptoms and slowing disease progression.
Key facts at a glance
- ICD-10
- Q24.9
- ICD-11
- LA00.0
- Body system
- cardiovascular
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Chest discomfort or palpitations
(cardiovascular)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Fatigue
(cardiovascular)Lower extremity edema
(cardiovascular)Palpitations
(cardiovascular)Macroglossia
(cardiovascular)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
Disease management and monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Transthyretin Stabilizer Therapy
Tafamidis and similar TTR stabilizers bind to transthyretin tetramers, preventing their dissociation and subsequent amyloid fibril formation. These disease-modifying agents slow functional decline and reduce mortality in ATTR amyloidosis.
Gene Silencing Therapy
Patisiran and inotersen reduce hepatic production of mutant transthyretin through RNA interference mechanisms. These therapies achieve significant TTR reduction and improve neuropathy outcomes and quality of life measures.
Additional treatment options
Cardiac Device Implantation
Permanent pacemaker implantation addresses conduction system disease and heart block common in ATTR amyloidosis. ICD consideration for primary prevention of sudden cardiac death in selected high-risk patients.
procedureHeart Failure Symptomatic Management
Diuretics relieve volume overload symptoms while neurohormonal antagonists may be used cautiously. Beta-blockers and ACE inhibitors require careful titration due to autonomic dysfunction and orthostatic hypotension in amyloidosis.
medicationComprehensive Cardiac and Systemic Monitoring
Regular echocardiography with strain imaging, BNP/NT-proBNP trending, and periodic cardiac MRI assess disease progression and treatment response. Neurologic examinations and autonomic testing complement cardiac surveillance.
monitoringWhen 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 Attrv122i Amyloidosis C4275067?
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.
Benson MD, Waddington-Cruz M, Berk JL, et al. Recommendations for the diagnosis and management of hereditary transthyretin amyloidosis. Amyloid J. 2022.
Rapezzi C, Merlo L, Lorenzini M, et al. Cardiac amyloidosis due to Val122Ile transthyretin mutation: clinical features and therapeutic challenges. J Card Fail. 2021.
Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018.
Ioannou A, Baksi AJ, Schofield RA, et al. Outcomes of patients with hereditary transthyretin amyloidosis receiving disease-modifying therapies: systematic review and meta-analysis. Eur Heart J. 2023.
Medication Comparisons
Compare medications used to treat Attrv122i Amyloidosis C4275067. 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