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

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.

SUBMITTER: Ghosh S 

PROVIDER: S-EPMC8084012 | biostudies-literature |

REPOSITORIES: biostudies-literature