PDF(Pubmed)
Abstract：
UNASSIGNED: Myocardial abnormalities are sometimes overlooked in congenital heart disease (CHD). The co-existence of hypertrophic cardiomyopathy is so uncommon that it is assumed to be a coincidence rather than an association.
UNASSIGNED: A 24-year-old gentleman, who was previously clinically well following a staged Fontan palliation for single-ventricle CHD, was transferred to our centre following an out-of-hospital cardiac arrest. He had return of spontaneous circulation after a period of cardiopulmonary resuscitation. Initial electrocardiogram showed sinus bradycardia. Computed tomography pulmonary angiography ruled out pulmonary embolism. Transthoracic echocardiography and cardiac magnetic resonance (CMR) demonstrated marked ventricular hypertrophy with no left ventricular outflow tract obstruction. Punctate areas of late gadolinium enhancement were noted in the basal septum, and T1 values were consistent with fibrosis. Cardiac catheterization demonstrated low Fontan pressures and normal coronaries. Ventricular tachycardia rapidly degenerating into ventricular fibrillation was induced during electrophysiological studies. Genetic testing demonstrated a pathogenic cardiac myosin-binding protein C variant consistent with co-existent hypertrophic cardiomyopathy. Bisoprolol was initiated and a subcutaneous implantable cardiac defibrillator implanted 4 weeks after his initial presentation. Two years on, he remains well with no therapies from his defibrillator. As well as Fontan surveillance, cascade testing, exercise prescription, and pre-conception counselling were addressed during follow-up.
UNASSIGNED: In CHD, ventricular hypertrophy may relate to congenital or acquired systemic outflow tract obstruction. Contemporary CMR techniques combined with genetic testing can be useful in differentiating between hypertrophy caused by congenital anomaly vs. concurrent cardiomyopathies. Multidisciplinary expertise is critical for accurate diagnosis and optimal care.
UNASSIGNED: A 24-year-old gentleman, who was previously clinically well following a staged Fontan palliation for single-ventricle CHD, was transferred to our centre following an out-of-hospital cardiac arrest. He had return of spontaneous circulation after a period of cardiopulmonary resuscitation. Initial electrocardiogram showed sinus bradycardia. Computed tomography pulmonary angiography ruled out pulmonary embolism. Transthoracic echocardiography and cardiac magnetic resonance (CMR) demonstrated marked ventricular hypertrophy with no left ventricular outflow tract obstruction. Punctate areas of late gadolinium enhancement were noted in the basal septum, and T1 values were consistent with fibrosis. Cardiac catheterization demonstrated low Fontan pressures and normal coronaries. Ventricular tachycardia rapidly degenerating into ventricular fibrillation was induced during electrophysiological studies. Genetic testing demonstrated a pathogenic cardiac myosin-binding protein C variant consistent with co-existent hypertrophic cardiomyopathy. Bisoprolol was initiated and a subcutaneous implantable cardiac defibrillator implanted 4 weeks after his initial presentation. Two years on, he remains well with no therapies from his defibrillator. As well as Fontan surveillance, cascade testing, exercise prescription, and pre-conception counselling were addressed during follow-up.
UNASSIGNED: In CHD, ventricular hypertrophy may relate to congenital or acquired systemic outflow tract obstruction. Contemporary CMR techniques combined with genetic testing can be useful in differentiating between hypertrophy caused by congenital anomaly vs. concurrent cardiomyopathies. Multidisciplinary expertise is critical for accurate diagnosis and optimal care.
摘要：
先天性心脏病（CHD）有时会忽略心肌异常。肥厚型心肌病的共存是如此罕见，以至于被认为是巧合而不是关联。
■一位24岁的绅士,他以前在临床上很好地接受了单心室冠心病的分阶段Fontan姑息治疗，在院外心脏骤停后被转移到我们中心。经过一段时间的心肺复苏后，他恢复了自发循环。初始心电图显示窦性心动过缓。计算机断层扫描肺动脉造影排除了肺栓塞。经胸超声心动图和心脏磁共振（CMR）显示明显的心室肥厚，没有左心室流出道阻塞。在基底隔膜中注意到晚钆增强的点状区域，和T1值与纤维化一致。心导管检查显示Fontan压力低，冠状动脉正常。在电生理研究过程中会诱发室性心动过速迅速退化为心室纤颤。遗传测试表明，致病性心肌肌球蛋白结合蛋白C变体与共存的肥厚型心肌病一致。在初次就诊4周后，开始使用比索洛尔，并植入皮下植入式心脏除颤器。两年过去了,他的除颤器没有治疗，他仍然很好。还有Fontan的监视,级联测试,运动处方,并在随访期间解决了孕前咨询。
■在冠心病中，心室肥厚可能与先天性或后天性流出道阻塞有关。当代CMR技术结合基因检测可用于区分先天性异常引起的肥大与并发心肌病。多学科专业知识对于准确诊断和最佳护理至关重要。
■一位24岁的绅士,他以前在临床上很好地接受了单心室冠心病的分阶段Fontan姑息治疗，在院外心脏骤停后被转移到我们中心。经过一段时间的心肺复苏后，他恢复了自发循环。初始心电图显示窦性心动过缓。计算机断层扫描肺动脉造影排除了肺栓塞。经胸超声心动图和心脏磁共振（CMR）显示明显的心室肥厚，没有左心室流出道阻塞。在基底隔膜中注意到晚钆增强的点状区域，和T1值与纤维化一致。心导管检查显示Fontan压力低，冠状动脉正常。在电生理研究过程中会诱发室性心动过速迅速退化为心室纤颤。遗传测试表明，致病性心肌肌球蛋白结合蛋白C变体与共存的肥厚型心肌病一致。在初次就诊4周后，开始使用比索洛尔，并植入皮下植入式心脏除颤器。两年过去了,他的除颤器没有治疗，他仍然很好。还有Fontan的监视,级联测试,运动处方,并在随访期间解决了孕前咨询。
■在冠心病中，心室肥厚可能与先天性或后天性流出道阻塞有关。当代CMR技术结合基因检测可用于区分先天性异常引起的肥大与并发心肌病。多学科专业知识对于准确诊断和最佳护理至关重要。
