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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

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Unexpected manifestation of cardiac amyloidosis

Sauid Ishaq1,2, Fei Lin1, Joe Martins3

  • 1Department of Gastroenterology and Cardiology, Dudley group of Hospital, Dudley, UK.

BMJ Case Reports
|August 6, 2018
PubMed

Insights

Cardiac amyloidosis diagnosis is challenging. Unexplained, recurrent ascites may indicate this serious heart condition, prompting earlier detection and intervention for better outcomes.

Area of Science:

  • Cardiology
  • Internal Medicine
  • Nephrology

Background:

  • Cardiac amyloidosis is a progressive condition often diagnosed late.
  • Hypertension and left ventricular systolic dysfunction are common comorbidities.
  • Ascites can be a non-specific symptom in cardiovascular disease.

Observation:

  • A patient presented with unexplained, recurrent ascites and stable hypertension.
  • Cardiovascular symptoms were initially non-specific, delaying diagnosis.
  • The patient experienced significant cardiovascular deterioration over two years.

Findings:

  • Cardiac amyloidosis was diagnosed at an end-stage after a two-year diagnostic delay.
  • Unexplained, recurrent ascites was a prominent, yet initially misleading, symptom.
  • The case highlights diagnostic challenges in identifying cardiac amyloidosis.

Implications:

  • There is a need for improved diagnostic criteria for cardiac amyloidosis.
  • Unexplained, recurrent ascites should be considered a potential early indicator.
  • Earlier recognition of cardiac amyloidosis can improve patient prognosis.

Keywords:
cirrhosisheart failure

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