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首页> 外文期刊>American journal of medical genetics, Part A >Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
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Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients

机译：非身份性心房心动过速在骚扰患者中独立地发生肥厚性心肌病

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摘要

Multifocal atrial tachycardia (MAT) has a well‐known association with Costello syndrome, but is rarely described with related RAS/MAPK pathway disorders (RASopathies). We report 11 patients with RASopathies (Costello, Noonan, and Noonan syndrome with multiple lentigines [formerly LEOPARD syndrome]) and nonreentrant atrial tachycardias (MAT and ectopic atrial tachycardia) demonstrating overlap in cardiac arrhythmia phenotype. Similar overlap is seen in RASopathies with respect to skeletal, musculoskeletal and cutaneous abnormalities, dysmorphic facial features, and neurodevelopmental deficits. Nonreentrant atrial tachycardias may cause cardiac compromise if sinus rhythm is not restored expeditiously. Typical first‐line supraventricular tachycardia anti‐arrhythmics (propranolol and digoxin) were generally not effective in restoring or maintaining sinus rhythm in this cohort, while flecainide or amiodarone alone or in concert with propranolol were effective anti‐arrhythmic agents for acute and chronic use. Atrial tachycardia resolved in all patients. However, a 4‐month‐old boy from the cohort was found asystolic (with concurrent cellulitis) and a second patient underwent cardiac transplant for heart failure complicated by recalcitrant atrial arrhythmia. While propranolol alone frequently failed to convert or maintain sinus rhythm, fleccainide or amiodarone, occasionally in combination with propranolol, was effective for RASopathy patient treatment for nonreentrant atrial arrhythmia. Our analysis shows that RASopathy patients may have nonreentrant atrial tachycardia with and without associated cardiac hypertrophy. While nonreentrant arrhythmia has been traditionally associated with Costello syndrome, this work provides an expanded view of RASopathy cardiac arrhythmia phenotype as we demonstrate mutant proteins throughout this signaling pathway can also give rise to ectopic and/or MAT.
机译：多灶性心房心动过速（MAT）具有众所周知的与Costello综合征相关联，但很少用相关的RAS / MAPK途径障碍（Rasopathies）进行描述。我们报告11例rasopathies（Costello，Noonan和Noonan综合征，具有多次母语[以前的豹综合征]）和非身份心房心动过速（垫和异位心房心动过缓），证明了心律失常表型重叠。对于骨骼，肌肉骨骼和皮肤异常，疑似面部特征和神经发作的缺陷，在Rasopathies中观察到类似的重叠。如果窦性心律并未迅速恢复，那么非身高性心房的心动过速可能会导致心脏妥协。典型的第一线上暑期心动过速抗心律失常（普萘洛尔和地氧嘧啶）通常在恢复或维持该队列中的窦性心律而不是有效，而单独的氨纶或胺碘酮单独或与普萘洛尔的音乐会是有效的抗心律失常，用于急性和慢性用途。所有患者都解决了心房心动过速。然而，来自队列的一个4个月大的男孩被发现是asystolic（具有并发蜂窝织炎）和第二名患者接受心力衰竭的心脏移植因顽固性心间心律失常而复杂。虽然单独的普萘洛尔经常未能转化或维持窦性心律，绵羊酰胺或胺碘酮，但偶尔与普萘洛尔组合，对于非身心心律失常的骚扰患者治疗是有效的。我们的分析表明，Rasopathy患者可能具有非身份心房心动过速，并且没有相关的心脏肥大。虽然非身份心律失常传统上与Costello综合征有关，但这项工作提供了令人讨厌的心律失常表型的扩展视图，因为我们在整个信号传导途径中展示突变蛋白也可以产生异位和/或垫。

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