Kassamali Ali Asghar, Vaishnav Joban, Czarny Matthew J, Blake Victoria, Gupta Vrinda, Johnson Jeremy, Zimmerman Stefan L, Madrazo Jose A, Carrick Richard T
Johns Hopkins University, Krieger School for Arts and Science, Baltimore, Maryland, USA.
Division of Cardiology, Johns Hopkins Medical Center, Baltimore, Maryland, USA.
JACC Case Rep. 2025 Aug 6;30(22):104495. doi: 10.1016/j.jaccas.2025.104495.
Cardiac amyloidosis (CA) and hypertrophic cardiomyopathy often manifest with overlapping clinical features, making diagnosis and management challenging.
We describe a 79-year-old man presenting with exertional dyspnea and presyncope who was diagnosed with transthyretin CA with left ventricular outflow tract (LVOT) obstruction and was treated with concurrent mavacamten and tafamidis.
There is substantial overlap in the clinical phenotypes of hypertrophic cardiomyopathy and CA, and the presence of hemodynamically significant LVOT does not exclude the possibility of CA as an underlying diagnosis. Endomyocardial biopsy may be required when noninvasive testing is ambiguous or in the presence of overlapping disease features.
TAKE-HOME MESSAGES: Hemodynamically significant LVOT obstruction is a rare but clinically relevant manifestation of CA that may lead to diagnostic ambiguity and difficult management decisions. Tafamidis and mavacamten can be used safely in combination to provide symptom relief and slow disease progression in obstructive transthyretin CA.
心脏淀粉样变性（CA）和肥厚型心肌病常表现出重叠的临床特征，这使得诊断和管理具有挑战性。
我们描述了一名79岁男性，出现劳力性呼吸困难和先兆晕厥，被诊断为伴有左心室流出道（LVOT）梗阻的转甲状腺素蛋白CA，并接受了马伐卡坦和他法米地同时治疗。
肥厚型心肌病和CA的临床表型有很大重叠，血流动力学上显著的LVOT存在并不排除CA作为潜在诊断的可能性。当无创检测不明确或存在重叠疾病特征时，可能需要进行心内膜活检。
血流动力学上显著的LVOT梗阻是CA的一种罕见但临床相关的表现，可能导致诊断模糊和困难的管理决策。他法米地和马伐卡坦可以安全联合使用，以缓解症状并减缓梗阻性转甲状腺素蛋白CA的疾病进展。
