ABSTRACT
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a mutation-based genetic disorder due to the accumulation of unstable transthyretin protein and presents with symptoms of congestive heart failure (CHF) and numerous extracardiac symptoms like carpal tunnel syndrome and neuropathy. Two subtypes of ATTR-CM are hereditary and wild-type, both of which have different risk factors, gender prevalence and major clinical symptoms. Timely usage of imaging modalities like echocardiography, cardiac magnetic imaging resonance, and cardiac scintigraphy has made it possible to suspect ATTR-CM in patients presenting with CHF. Management of ATTR-CM includes appropriate treatment for heart failure for symptomatic relief, prevention of arrhythmias and heart transplantation for nonresponders. With the recent approval of tafamidis in the successful management of ATTR-CM, numerous potential therapeutic points have been identified to stop or delay the progression of ATTR-CM. This article aims to provide a comprehensive review of ATTR-CM and insights into its novel therapeutics and upcoming treatments.
Subject(s)
Amyloid Neuropathies, Familial , Cardiomyopathies , Heart Failure , Humans , Amyloid Neuropathies, Familial/therapy , Amyloid Neuropathies, Familial/drug therapy , Prealbumin/genetics , Prealbumin/therapeutic use , Heart Failure/diagnosis , Heart Failure/etiology , Heart Failure/therapy , Echocardiography , Cardiomyopathies/etiology , Cardiomyopathies/geneticsABSTRACT
We present a case report of a 20-year-old male who suffered a stab injury to the left supraclavicular region, resulting in the formation of a pseudoaneurysm of the left subclavian artery. Initial endovascular management with a self-expandable covered stent graft showed promising results, but recurrence with proximal and distal end leaks necessitated further intervention. The patient's financial constraints delayed subsequent treatment, leading to worsening symptoms, including left upper limb paraparesis. Facing technical challenges due to the large size of the aneurysm and proximity to the vertebral artery, a vertebral artery confluence was performed, followed by a longer stent-graft placement to address the pseudoaneurysm successfully. This case highlights the potential advantages of endovascular approaches in complex subclavian artery injuries and emphasizes the importance of timely intervention to avoid complications and improve patient outcomes.
