PDF(Pubmed)
Abstract：
Cantu syndrome is a rare and complex multisystem disorder characterized by hypertrichosis, facial dysmorphism, osteochondroplasia and cardiac abnormalities. With only 150 cases reported worldwide, Cantu syndrome is now gaining wider recognition due to molecular testing and a growing body of literature that further characterizes the syndrome and some of its most important features. Cardiovascular pathology previously described in the literature include cardiomegaly, pericardial effusion, vascular dilation and tortuosity, and other congenital heart defects. However, cardiovascular involvement is highly variable amongst individuals with Cantu syndrome. In some instances, it can be extensive and severe requiring surgical management and long term follow up.
Herein we report a case of a fourteen-year-old female who presented with worsening pericardial effusion of unknown etiology, and echocardiographic findings of concentric left ventricular hypertrophy, a mildly dilated aortic root and ascending aorta. Her medical history was notable for hemoptysis and an episode of pulmonary hemorrhage secondary to multiple aortopulmonary collaterals that were subsequently embolized in early childhood. She was initially managed with Ibuprofen and Colchicine but continued to worsen, and ultimately required a pericardial window for the management of refractory pericardial effusion. Imaging studies obtained on subsequent visits revealed multiple dilated and tortuous blood vessels in the head, neck, chest, and pelvis. A cardiomyopathy molecular studies panel was sent, and a pathogenic variant was identified in the ABCC9 gene, confirming the molecular diagnosis of autosomal dominant Cantu syndrome.
Vascular anomalies and significant cardiac involvement are often present in Cantu syndrome, however there are currently no established screening recommendations or surveillance protocols in place. The triad of hypertrichosis, facial dysmorphism, and unexplained cardiovascular involvement in any patient should raise suspicion for Cantu syndrome and warrant further investigation. Initial cardiac evaluation and follow up should be indicated in any patient with a clinical and/or molecular diagnosis of Cantu syndrome. Furthermore, whole body imaging should be utilized to evaluate the extent of vascular involvement and dictate long term monitoring and care.
Herein we report a case of a fourteen-year-old female who presented with worsening pericardial effusion of unknown etiology, and echocardiographic findings of concentric left ventricular hypertrophy, a mildly dilated aortic root and ascending aorta. Her medical history was notable for hemoptysis and an episode of pulmonary hemorrhage secondary to multiple aortopulmonary collaterals that were subsequently embolized in early childhood. She was initially managed with Ibuprofen and Colchicine but continued to worsen, and ultimately required a pericardial window for the management of refractory pericardial effusion. Imaging studies obtained on subsequent visits revealed multiple dilated and tortuous blood vessels in the head, neck, chest, and pelvis. A cardiomyopathy molecular studies panel was sent, and a pathogenic variant was identified in the ABCC9 gene, confirming the molecular diagnosis of autosomal dominant Cantu syndrome.
Vascular anomalies and significant cardiac involvement are often present in Cantu syndrome, however there are currently no established screening recommendations or surveillance protocols in place. The triad of hypertrichosis, facial dysmorphism, and unexplained cardiovascular involvement in any patient should raise suspicion for Cantu syndrome and warrant further investigation. Initial cardiac evaluation and follow up should be indicated in any patient with a clinical and/or molecular diagnosis of Cantu syndrome. Furthermore, whole body imaging should be utilized to evaluate the extent of vascular involvement and dictate long term monitoring and care.
摘要：
背景：Cantu综合征是一种罕见且复杂的多系统疾病，其特征是多毛症，面部畸形,骨软骨增生和心脏异常。全世界报告的病例只有150例,由于分子测试和越来越多的文献进一步表征了该综合征及其一些最重要的特征，Cantu综合征现在获得了更广泛的认可。先前在文献中描述的心血管病理学包括心脏肥大，心包积液,血管扩张和弯曲，和其他先天性心脏缺陷。然而,Cantu综合征患者的心血管受累差异很大.在某些情况下,它可能是广泛和严重的，需要手术管理和长期随访。
方法：在此，我们报告一例14岁女性，其病因不明，心包积液恶化，同心左心室肥厚的超声心动图发现，轻度扩张的主动脉根和升主动脉。她的病史值得注意的是咯血和继发于多个主动脉肺脉的肺出血，随后在儿童早期被栓塞。她最初用布洛芬和秋水仙碱管理，但继续恶化，最终需要一个心包窗口来处理难治性心包积液。在随后的访问中获得的成像研究显示，头部有多个扩张和曲折的血管，脖子,胸部，还有骨盆.派出了一个心肌病分子研究小组，在ABCC9基因中发现了一种致病变异，确认常染色体显性遗传Cantu综合征的分子诊断。
结论：Cantu综合征常出现血管异常和明显的心脏受累，然而,目前尚无既定的筛查建议或监测方案.多毛症的三合会,面部畸形,任何患者的原因不明的心血管受累都应引起Cantu综合征的怀疑,需要进一步调查.临床和/或分子诊断为Cantu综合征的患者应进行初始心脏评估和随访。此外，应利用全身成像来评估血管受累的程度,并指导长期监测和护理.
方法：在此，我们报告一例14岁女性，其病因不明，心包积液恶化，同心左心室肥厚的超声心动图发现，轻度扩张的主动脉根和升主动脉。她的病史值得注意的是咯血和继发于多个主动脉肺脉的肺出血，随后在儿童早期被栓塞。她最初用布洛芬和秋水仙碱管理，但继续恶化，最终需要一个心包窗口来处理难治性心包积液。在随后的访问中获得的成像研究显示，头部有多个扩张和曲折的血管，脖子,胸部，还有骨盆.派出了一个心肌病分子研究小组，在ABCC9基因中发现了一种致病变异，确认常染色体显性遗传Cantu综合征的分子诊断。
结论：Cantu综合征常出现血管异常和明显的心脏受累，然而,目前尚无既定的筛查建议或监测方案.多毛症的三合会,面部畸形,任何患者的原因不明的心血管受累都应引起Cantu综合征的怀疑,需要进一步调查.临床和/或分子诊断为Cantu综合征的患者应进行初始心脏评估和随访。此外，应利用全身成像来评估血管受累的程度,并指导长期监测和护理.
