Wada Naotoshi, Keisuke Shoji, Nomura Tetsuya, Keira Natsuya, Tatsumi Tetsuya
Department of Cardiovascular Medicine, Kyoto Chubu Medical Center, 25, Yagi-Ueno, Yagi-cho, Nantan City, Kyoto 629-0197, Japan.
Eur Heart J Case Rep. 2024 Jun 29;8(7):ytae309. doi: 10.1093/ehjcr/ytae309. eCollection 2024 Jul.
PTPN11 is ubiquitously expressed and has a variety of phenotypes even in a single heart. We examined LEOPARD syndrome (LS) in a patient with variants through pathological, electrophysiological, and anatomical studies.
A 49-year-old man with no previous medical history was brought to our emergency department because of syncope. An electrocardiogram (ECG) revealed alternating bundle branch block, and echocardiography revealed hypertrophic cardiomyopathy-like morphology with systolic anterior motion of the posterior mitral valve. Atrioventricular block, left ventricular outflow tract (LVOT) obstruction, and ventricular tachycardia were considered the differential diagnoses; however, the treatment plan was difficult to determine. An electrophysiological study revealed the cause of the ECG abnormality to be accelerated idioventricular rhythm, and the programmed ventricular stimulation was negative. Genetic testing revealed LS with variant, which was speculated to be the cause of these various unique cardiac features. The cause of syncope was considered to be exacerbation of LVOT obstruction due to dehydration, and the patient was treated with oral beta-blockers. Implantable loop recorder observation for 1 year revealed no arrhythmia causing syncope, and an implantable cardioverter-defibrillator and pacemaker were deemed unnecessary for primary prevention of syncope. During 2.5 years of follow-up, the LVOT peak velocity fluctuated between 2.5 and 3.5 m/s, but the patient remained stable with no recurrent syncope.
We confirmed that LS is distinct from other cardiomyopathies using characterization, physiological, electrophysiological, and pathological examinations. Evidence supporting a specific treatment strategy for LS is limited, and understanding the pathogenesis may help establish effective treatment strategies.
蛋白酪氨酸磷酸酶非受体型11（PTPN11）在全身广泛表达，即使在单一心脏中也具有多种表型。我们通过病理、电生理和解剖学研究，对一名携带变异体的患者进行了豹皮综合征（LS）的检查。
一名既往无病史的49岁男性因晕厥被送至我院急诊科。心电图（ECG）显示交替性束支传导阻滞，超声心动图显示类似肥厚型心肌病的形态，伴有二尖瓣后叶收缩期前向运动。房室传导阻滞、左心室流出道（LVOT）梗阻和室性心动过速被列为鉴别诊断；然而，治疗方案难以确定。电生理研究显示ECG异常的原因是加速性室性自主心律，程控心室刺激为阴性。基因检测显示该患者携带变异体的LS，推测这是导致这些各种独特心脏特征的原因。晕厥的原因被认为是脱水导致LVOT梗阻加重，患者接受口服β受体阻滞剂治疗。植入式环路记录仪观察1年未发现导致晕厥的心律失常，且认为植入式心脏复律除颤器和起搏器对晕厥的一级预防不必要。在2.5年的随访中，LVOT峰值速度在2.5至3.5米/秒之间波动，但患者病情稳定，未再发生晕厥。
我们通过特征性、生理学、电生理学和病理学检查证实，LS与其他心肌病不同。支持LS特定治疗策略的证据有限，了解其发病机制可能有助于制定有效的治疗策略。
