Maron Martin S, Finley John J, Bos J Martijn, Hauser Thomas H, Manning Warren J, Haas Tammy S, Lesser John R, Udelson James E, Ackerman Michael J, Maron Barry J
Division of Cardiology, Hypertrophic Cardiomyopathy Center, Tufts Medical Center, Boston, Massachussetts 02111, USA.
Circulation. 2008 Oct 7;118(15):1541-9. doi: 10.1161/CIRCULATIONAHA.108.781401. Epub 2008 Sep 22.
Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease characterized by a diverse clinical and phenotypic spectrum. This study reports the prevalence, morphology, clinical course, and management of an underrecognized subgroup of HCM patients with left ventricular apical aneurysms.
Of 1299 HCM patients, 28 (2%) were identified with left ventricular apical aneurysms, including a pair of identical twins. Aneurysms were recognized at a wide age range (26 to 83 years), including 12 patients (43%) who were <or=50 years of age. Apical aneurysms varied considerably in size (maximum dimension, 10 to 66 mm), were dyskinetic/akinetic with thin rims, and were associated with transmural (and often more extensive) myocardial scarring identified by late gadolinium enhancement cardiovascular magnetic resonance. Apical aneurysms were recognized by echocardiography in only 16 of 28 patients (57%) but by cardiovascular magnetic resonance in the 12 patients undetected by echocardiography. Left ventricular chamber morphology varied; however, 19 patients (68%) showed an "hourglass" contour, with midventricular hypertrophy producing muscular narrowing and intracavitary gradients in 9 patients (74+/-42 mm Hg). Sarcomeric protein missense mutations known to cause other phenotypic expressions of HCM were present in 3 patients. Over 4.1+/-3.7 years of follow-up, 12 patients (43%) with left ventricular apical aneurysms experienced adverse disease complications (event rate, 10.5%/y), including sudden death, appropriate implantable cardioverter-defibrillator discharges, nonfatal thromboembolic stroke, and progressive heart failure and death.
Patients with left ventricular apical aneurysms represent an underappreciated subset in the heterogeneous HCM disease spectrum with important clinical implications, often requiring a high index of suspicion and cardiovascular magnetic resonance for identification. Apical aneurysms in HCM are associated with substantial cardiovascular morbidity and mortality and raise novel treatment considerations.
肥厚型心肌病（HCM）是最常见的遗传性心脏病，具有多样的临床和表型谱。本研究报告了HCM患者中一个未被充分认识的左心室心尖部室壁瘤亚组的患病率、形态、临床病程及治疗情况。
在1299例HCM患者中，28例（2%）被确诊有左心室心尖部室壁瘤，其中包括一对同卵双胞胎。室壁瘤在较宽的年龄范围内被发现（26至83岁），包括12例（43%）年龄≤50岁的患者。心尖部室壁瘤大小差异很大（最大直径10至66毫米），表现为运动减弱/无运动，边缘较薄，并且与钆延迟增强心血管磁共振成像所显示的透壁性（且通常范围更广）心肌瘢痕形成有关。28例患者中只有16例（57%）通过超声心动图发现心尖部室壁瘤，而另外12例未被超声心动图发现的患者是通过心血管磁共振成像确诊的。左心室腔形态各异；然而，19例患者（68%）呈现“沙漏”形轮廓，其中9例患者（74±42毫米汞柱）因心室中部肥厚导致肌性狭窄和心腔内压力阶差。3例患者存在已知可导致HCM其他表型表现的肌节蛋白错义突变。在4.1±3.7年的随访中，12例（43%）左心室心尖部室壁瘤患者出现了不良疾病并发症（事件发生率为10.5%/年），包括心源性猝死、植入式心律转复除颤器恰当放电、非致死性血栓栓塞性卒中以及进行性心力衰竭和死亡。
左心室心尖部室壁瘤患者是异质性HCM疾病谱中一个未得到充分认识的亚组，具有重要的临床意义，通常需要高度怀疑并借助心血管磁共振成像来确诊。HCM中的心尖部室壁瘤与显著的心血管发病率和死亡率相关，并引发了新的治疗考量。
