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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Clinical profile of patients with cardiac amyloidosis in India
Bishav Mohan1, Suvir Singh2, Rohit Tandon1
1Dayanand Medical College & Hospital Unit Hero DMC Heart Institute, Ludhiana, India.
Insights
Cardiac amyloidosis (CA) is underdiagnosed in India. This study highlights high mortality and persistent symptoms in CA patients, suggesting a need for earlier diagnosis, especially in resource-limited settings.
Area of Science:
- Cardiology
- Amyloidosis Research
- Indian Healthcare
Background:
- Cardiac amyloidosis (CA) is a significant cause of heart failure, often underdiagnosed in India.
- Limited data exists on the clinical presentation and outcomes of CA patients in the Indian subcontinent.
- Late diagnosis contributes to poor prognosis in CA.
Purpose of the Study:
- To present single-center data on cardiac amyloidosis patients in India.
- To describe the clinical characteristics, outcomes, and diagnostic challenges of CA in this population.
- To propose an algorithm for earlier CA diagnosis in resource-constrained environments.
Main Methods:
- Retrospective analysis of 13 cardiac amyloidosis patients over four years.
- Data collection included patient demographics, clinical presentation, diagnosis, and follow-up outcomes.
- A diagnostic algorithm was developed based on clinical experience.
Main Results:
- Median age of patients was 65 years; 69% presented with symptomatic heart failure.
- Eight patients had confirmed light-chain (AL) amyloidosis.
- Mortality was high (46%), with 30% dying within six months; 71% of survivors had persistent NYHA class III/IV symptoms.
Conclusions:
- Cardiac amyloidosis in India is associated with significant morbidity and mortality.
- Early diagnosis is crucial for improving patient outcomes.
- The proposed algorithm may aid in earlier CA detection in resource-limited settings.
Abstract:
Limited data exists on patients with cardiac amyloidosis (CA) in India, due to underdiagnosis and late presentation. We present single centre data from 13 patients over a 4 year period with a median age of 65 years. A majority presented with symptomatic heart failure (69%) and eight patients had confirmed AL amyloidosis. At the end of the follow up period, 46% patients died, with 30% of the overall cohort dead within six months. Among the survivors, 71% continue to have NYHA grade III/IV symptoms. A suggested algorithm for earlier diagnosis in resource constrained settings is also presented.
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