Pediatric Surgery Department, Gaslini Children Hospital, Genova, Italy.
J Thorac Cardiovasc Surg. 2010 May;139(5):1177-82. doi: 10.1016/j.jtcvs.2009.08.024. Epub 2009 Nov 11.
Poland syndrome is a rare congenital anomaly characterized by complete or partial agenesis of the pectoralis major muscle variably associated with other thoracic malformations, upper limb malformations, or both. More than 20 patients with dextrocardia and left-sided Poland syndrome have been previously described. The association between these 2 rare anomalies suggests a causal relationship, but the etiopathogenetic mechanism has not been clarified yet. We studied the clinical correlation between these 2 anomalies, and we tried to elucidate whether dextrocardia or Poland syndrome comes first.
This is a multicentric multidisciplinary study conducted over the last 5 years. We identified 122 patients with Poland syndrome, and we investigated heart position through different imaging techniques. Logistic regression statistical analyses were carried out.
We observed dextrocardia in 14 (11.5%) patients, which was never associated with situs inversus. All of them presented with left-sided Poland syndrome and partial agenesis of 2 or more ribs. Conversely, all patients with Poland syndrome with partial agenesis of 2 or more ribs presented with dextrocardia, whereas dextrocardia was never associated with partial agenesis of a single rib. Three patients with dextrocardia presented with simple congenital heart defects.
These findings suggest that mechanical factors during embryonic life could explain the strong association between left-sided Poland syndrome and dextrocardia. According to this hypothesis, partial agenesis of 2 or more ribs is needed to displace the heart toward the right side. The peculiar features of dextrocardia when associated with Poland syndrome (neither associated with situs inversus nor complex intracardiac anomalies) support our hypothesis.
波兰综合征是一种罕见的先天性畸形，其特征为胸大肌完全或部分缺失，可伴有其他胸壁畸形、上肢畸形或两者兼有。此前已有 20 多例右旋心伴左侧波兰综合征患者的报道。这两种罕见异常之间的关联提示存在因果关系，但病因发病机制尚未阐明。我们研究了这两种异常之间的临床相关性，并试图阐明右旋心或波兰综合征是先出现的。
这是一项在过去 5 年中进行的多中心多学科研究。我们共鉴定了 122 例波兰综合征患者，并通过不同的影像学技术研究了心脏位置。采用逻辑回归统计分析。
我们观察到 14 例（11.5%）患者存在右旋心，且从不伴有内脏逆位。所有患者均表现为左侧波兰综合征伴 2 根或更多肋骨部分缺失。相反，所有伴有 2 根或更多肋骨部分缺失的波兰综合征患者均存在右旋心，而右旋心从未与单根肋骨部分缺失相关。3 例右旋心患者伴发单纯性先天性心脏病。
这些发现提示胚胎期机械因素可能解释左侧波兰综合征与右旋心之间的强相关性。根据这一假说，需要 2 根或更多肋骨的部分缺失才能使心脏向右移位。当与波兰综合征相关时，右旋心的特殊特征（既不伴有内脏逆位，也不伴有复杂的心脏内畸形）支持我们的假说。
