Key result
A 34-year-old male was diagnosed with wild-type transthyretin cardiac amyloidosis, contradicting its typical presentation only in the elderly, and ultimately died despite blood pressure control.
Why the study?
Wild-type transthyretin amyloidosis is considered a disease of the elderly that is often misdiagnosed or attributed to normal aging, but it may also occur in young individuals.
Case Report (n=1)
This case demonstrates that wild-type transthyretin cardiac amyloidosis can occur in young individuals and should be considered in young patients with unexplained cardiac distress and left ventricular hypertrophy.
ATTRwt may occur in young adults with unexplained LVH; single case leaves open need for prevalence studies before changing diagnostic thresholds.
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.
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Ghosh et al. (2021) conducted a case report in Wild type transthyretin cardiac amyloidosis (n=1). Amlodipine, telmisartan, and chlorthalidone was evaluated on Blood pressure control and symptom resolution. A 34-year-old male was diagnosed with wild-type transthyretin cardiac amyloidosis, contradicting its typical presentation only in the elderly, and ultimately died despite blood pressure control.
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