Living with ATTRV122I amyloidosis
An inherited condition in which an abnormal protein builds up in the heart muscle, usually appearing in adulthood.
Understanding ATTRV122I amyloidosis
Also called TTR-related familial amyloidotic cardiomyopathy, it mostly affects the heart muscle. It usually appears in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Abnormal heart rhythm (arrhythmia)
- Thickened heart muscle
- Enlarged heart
- Stiff heart muscle (restrictive cardiomyopathy)
- Protein buildup in the heart (cardiac amyloidosis)
- Heart electrical conduction problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in TTR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Hypertrophic Cardiomyopathy Association and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Hypertrophic Cardiomyopathy Association, Children's Cardiomyopathy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Hypertrophic Cardiomyopathy Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the TTR gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: attr cardiomyopathy; attrv122i-related amyloidosis; transthyretin amyloid cardiopathy; transthyretin related familial amyloid cardiomyopathy; transthyretin-related familial amyloid cardiomyopathy; ttr-related amyloid cardiomyopathy
Patient organizations
- Hypertrophic Cardiomyopathy AssociationATTRV122I amyloidosis · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with ATTRV122I amyloidosis.
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