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Case report
Hereditary transthyretin amyloidosis caused by the rare Phe33Leu mutation
  1. Anna Björkenheim,
  2. Barna Szabó and
  3. Áron József Sztaniszláv
  1. Department of Cardiology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden
  1. Correspondence to Dr Anna Björkenheim; anna.bjorkenheim{at}


Hereditary transthyretin amyloidosis is a rare progressive systemic disease. We describe a physically active 46-year-old man who presented with dyspnoea on exertion. An echocardiogram showed increased left ventricular wall thickness and diastolic dysfunction, but normal systolic function. The QRS voltage on ECG was normal. The patient was diagnosed with hypertrophic cardiomyopathy, and several years passed before establishment of the accurate diagnosis of hereditary transthyretin amyloidosis caused by the rare mutation ATTR Phe33Leu, previously described in only five case reports. Further investigation revealed neuropathy and nephropathy, and the patient developed severe heart failure. The patient is treated with tafamidis, has undergone heart transplantation and is currently planned for liver transplant. Hereditary transthyretin amyloidosis is likely underdiagnosed, especially in patients presenting with cardiomyopathy. A discrepancy between the left ventricular mass indicated by echocardiogram and that on ECG is an important indicator of amyloidosis, as is involvement of multiple organs.

  • heart failure
  • renal system
  • neurology (drugs and medicines)
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  • Contributors The patient is currently under the care of BS. AJS performed the ablations and AB the cardioverter defibrillator implant. AB proposed the case report. All authors discussed the results and contributed substantially to the manuscript and approved the final version. All authors agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy of any part of this report are appropriately investigated and resolved.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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