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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
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Transthyretin Cardiac Amyloidosis
1Division of Cardiology, Hunter Holmes McGuire Veterans Affairs Medical Center, Richmond, VA, USA. anit.mankad@va.gov.
Current Cardiology Reports
|August 26, 2017
Summary
Transthyretin cardiac amyloidosis is a progressive heart disease often misdiagnosed. Increased awareness of this condition and its diagnostic tools is crucial for timely identification and management.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Transthyretin (TTR)-related cardiac amyloidosis is an infiltrative cardiomyopathy that can be mistaken for other heart conditions.
- It accounts for 18% of all cardiac amyloidosis cases, highlighting its clinical significance.
- Wild-type TTR (ATTRwt) causes sporadic disease, affecting up to 36% of individuals over 80.
- Hereditary TTR amyloidosis (ATTRm) is an inherited disorder with over 100 mutations, often impacting the heart and nervous system.
Purpose of the Study:
- To provide a comprehensive review of transthyretin cardiac amyloidosis.
- To increase awareness of the prevalence, signs, symptoms, and diagnostic methods for TTR cardiac amyloidosis.
- To emphasize the importance of differentiating this progressive cardiomyopathy from other forms of left ventricular hypertrophy.
Main Methods:
- This study is a comprehensive review of existing literature on transthyretin cardiac amyloidosis.
- It synthesizes information on epidemiology, clinical presentation, diagnostic approaches, and current research.
- Focuses on differentiating ATTRwt and ATTRm forms.
Main Results:
- ATTRwt amyloidosis is a common, slowly progressive condition in the elderly.
- ATTRm, particularly the Val122Ile mutation in African Americans, is a significant cause of hereditary cardiac amyloidosis in the USA.
- Early identification is essential due to the progressive nature of the disease.
- No FDA-approved treatments exist, but research into reducing mutated TTR is ongoing.
Conclusions:
- Transthyretin cardiac amyloidosis is an underdiagnosed condition requiring greater clinical awareness.
- Understanding the distinct features of ATTRwt and ATTRm is vital for accurate diagnosis.
- Further research and development of targeted therapies are needed for this progressive cardiomyopathy.
Keywords:
Cardiac amyloidosisHeart failureHereditary amyloidosisRestrictive cardiomyopathyTransthyretinMore Related Videos
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