Maron B J, Tajik A J, Ruttenberg H D, Graham T P, Atwood G F, Victorica B E, Lie J T, Roberts W C
Circulation. 1982 Jan;65(1):7-17. doi: 10.1161/01.cir.65.1.7.
The clinical and morphologic features of hypertrophic cardiomyopathy in 20 patients recognized as having cardiac disease in the first year of life are described. Fourteen of these 20 infants were initially suspected of having heart disease solely because a heart murmur was identified. However, the infants showed a variety of clinical findings, including signs of marked congestive heart failure (in the presence of non-dilated ventricular cavities and normal or increased left ventricular contractility) and substantial cardiac enlargement on chest radiograph. Other findings were markedly different from those usually present in older children and adults with hypertrophic cardiomyopathy (e.g., right ventricular hypertrophy on the ECG and cyanosis). Consequently, in 14 infants, the initial clinical diagnosis was congenital cardiac malformation other than hypertrophic cardiomyopathy. Twelve of the 14 infants who underwent left-heart catheterization showed substantial obstruction to left ventricular outflow (peak systolic pressure gradient greater than or equal to 35 mm Hg). However, unlike older patients with hypertrophic cardiomyopathy, infants with this condition commonly had marked obstruction to right ventricular outflow (35-106 mm Hg) (nine patients); in six patients, the magnitude of obstruction to right ventricular outflow was at least as great as that to left ventricular outflow. Asymmetric hypertrophy of the ventricular septum relative to the left ventricular free wall was present in the 16 patients who had echocardiographic or necropsy examination. Ventricular septal thickening was substantial in patients studied both before and after 6 months of age (mean 16 mm), indicating that in patients with hypertrophic cardiomyopathy, marked left ventricular hypertrophy may be present early in life and is probably congenital. The clinical course was variable in these patients, but the onset of marked congestive heart failure in the first year of life appeared to be an unfavorable prognostic sign; nine of the 11 infants with congestive heart failure died within the first year of life. In infants with hypertrophic cardiomyopathy, unlike older children and adults with this condition, sudden death was less common (two patients) than death due to progressive congestive heart failure.
本文描述了20例在出生后第一年内被诊断为患有心脏病的肥厚型心肌病患者的临床和形态学特征。这20例婴儿中，有14例最初仅仅因为发现心脏杂音而被怀疑患有心脏病。然而，这些婴儿表现出了各种各样的临床症状，包括明显的充血性心力衰竭迹象（心室腔未扩张，左心室收缩力正常或增强）以及胸部X线片显示心脏明显增大。其他症状与年长儿童和成人肥厚型心肌病通常出现的症状明显不同（例如，心电图显示右心室肥大和发绀）。因此，在14例婴儿中，最初的临床诊断为除肥厚型心肌病以外的先天性心脏畸形。在接受左心导管检查的14例婴儿中，有12例显示左心室流出道存在明显梗阻（收缩压峰值梯度大于或等于35 mmHg）。然而，与年长的肥厚型心肌病患者不同，患有这种疾病的婴儿通常右心室流出道也有明显梗阻（35 - 106 mmHg）（9例）；在6例患者中，右心室流出道梗阻的程度至少与左心室流出道梗阻程度相同。在接受超声心动图或尸检的16例患者中，均出现了室间隔相对于左心室游离壁的不对称肥厚。6个月龄前后接受研究的患者室间隔增厚明显（平均16 mm），这表明肥厚型心肌病患者在生命早期可能就存在明显的左心室肥厚，且可能是先天性的。这些患者的临床病程各不相同，但出生后第一年内出现明显的充血性心力衰竭似乎是一个不良的预后指标；11例患有充血性心力衰竭的婴儿中有9例在出生后第一年内死亡。在肥厚型心肌病婴儿中，与年长儿童和成人不同，猝死并不常见（2例），而因进行性充血性心力衰竭导致的死亡更为常见。
