Abstract Introduction: Wild-type transthyretin cardiac amyloidosis (ATTRwt) is generally an age-associated disease observed in older age groups. This case is exceptional in that it reports the aggressive presentation and course of ATTRwt in a young patient, defying traditional demographic characterizations and calling for more widespread diagnostic suspicion. Case Presentation: A 19-year-old Libyan male presented with out-of-hospital ventricular fibrillation (VF) cardiac arrest, requiring one hour and around 30 defibrillation shocks to achieve successful resuscitation. His background diagnosis of ATTRwt cardiac amyloidosis had been established at the age of 17, confirmed by cardiac magnetic resonance imaging (CMRI) which revealed diffuse concentric myocardial hypertrophy with characteristic late gadolinium enhancement and nulling difficulties, and a Technetium-99m Pyrophosphate (Tc-PYP) scintigraphy at age 18 (Perugini score 2). Serological and genetic investigations have excluded AL amyloidosis and hereditary ATTR. Interventions and Outcomes: After resuscitation, a secondary prevention Implantable Cardioverter-Defibrillator (ICD) was implanted. Although efforts were made previously to obtain certain TTR stabilizers, the drug Tafamidis was not available in Egypt. The patient is now treated with standard heart failure medications, such as Angiotensin Receptor Blockers (Candesartan) and Beta-Blockers (Metoprolol), in addition to diuretics. At the 4-month follow-up, his condition remained stable with no more documented ICD shocks. Conclusion: This case highlights the importance of suspecting ATTRwt even in young patients with cardiac presentations such as VF arrest, although ATTRwt is classically linked with very old age. It also draws attention to the difficulty caused by restricted availability of specific disease-modifying therapies for controlling the course of this uncommon and aggressive disease, exploring the health disparities and their effect on possible cessation of disease progression, if resolved.
Abdelkhalek et al. (Mon,) studied this question.