Wild type transthyretin cardiac amyloidosis in a young individual: A case report

Medicine (Baltimore). 2021 Apr 30;100(17):e25462. doi: 10.1097/MD.0000000000025462.

Abstract

Rationale: Senile systemic amyloidosis, a disease of elderly is caused by amyloid deposition of wild-type transthyretin. The symptoms often overlap with other heart diseases. Hence it is either misdiagnosed or considered as a normal aging process in majority of cases.

Patient concerns: We present a young patient of wild-type transthyretin amyloidosis, contradicting its only senile presence. The 34-year-old man presented with dyspnoea on exertion. He was suffering from hypertension for consecutive 3 years.

Diagnosis: Echocardiography demonstrated left ventricular hypertrophy with reduced global longitudinal strain and apical sparing. Congo red staining and immuno-histochemical staining of the abdominal fat biopsy confirmed transthyretin amyloid deposition. Genetic analysis revealed absence of any mutant variant/s of transthyretin gene, confirming wild-type transthyretin amyloidosis.

Intervention: A combination of amlodipine 5 mg, telmisartan 40 mg, and chlorthalidone 12.5 mg once daily was given to control the blood pressure of the patient.

Outcome: Blood pressure was controlled but he continued to have exertional dyspnoea. The patient expired in December 2019.

Lessons: A systematic diagnosis for wild type transthyretin amyloid cardiomyopathy (ATTR-CM) shall be considered in young cardiac patients suffering from cardiac distress with unknown etiology.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Fat / metabolism
  • Adult
  • Amyloid Neuropathies, Familial / blood*
  • Cardiomyopathies / blood*
  • Fatal Outcome
  • Humans
  • Male
  • Prealbumin / metabolism*

Substances

  • Prealbumin
  • TTR protein, human

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related