Jóźwiak Sergiusz, Kotulska Katarzyna, Kasprzyk-Obara Jolanta, Domańska-Pakieła Dorota, Tomyn-Drabik Małgorzata, Roberts Penelope, Kwiatkowski David
Department of Neurology and Epileptology, Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland.
Pediatrics. 2006 Oct;118(4):e1146-51. doi: 10.1542/peds.2006-0504. Epub 2006 Aug 28.
Tuberous sclerosis complex is an autosomal dominant disorder in which hamartomas occur in several organs. Cardiac rhabdomyomas, the most common heart tumors of childhood, are well known to be associated with tuberous sclerosis complex. Our aim for this study was to characterize the incidence, progression, and clinical consequences of tuberous sclerosis complex-associated rhabdomyomas in a large cohort of patients with TSC1 and TSC2 genotypes.
Patients (154) with tuberous sclerosis complex were evaluated, including clinical assessment, electrocardiography, and echocardiography. Mutations in TSC1 or TSC2 genes were identified in 127 patients.
Cardiac rhabdomyomas were found in 74 (48%) patients. Tumors were most frequent in children younger than 2 years (65%). Tumor regression or disappearance was observed in 37 (68%) of 55 children. However, in 6 (3.9%) of them (aged 10-15 years), cardiac rhabdomyomas were noted to either grow (3 cases) or appear de novo (3 cases), such that the frequency of cardiac rhabdomyomas in adolescents was 6 (54%) of 11. Most (61%) tumors were clinically silent. Clinical manifestations included heart failure (5.4%), arrhythmias (23%), and murmurs (14.9%). One child died as a result of cardiac insufficiency. Cardiac rhabdomyomas were more frequent in the TSC2 (54%) than TSC1 (20%) groups.
Cardiac rhabdomyomas are seen in the majority of young children with tuberous sclerosis complex. Most produce no clinical consequences and will spontaneously regress. However, during puberty, cardiac rhabdomyomas may enlarge or appear de novo; thus, attention should be paid to potential clinical signs and monitoring by echocardiography should be performed. Cardiac rhabdomyomas were observed more often in the TSC2 group.
结节性硬化症是一种常染色体显性疾病，可在多个器官中出现错构瘤。心脏横纹肌瘤是儿童期最常见的心脏肿瘤，众所周知与结节性硬化症相关。本研究的目的是在一大群具有TSC1和TSC2基因型的患者中，对结节性硬化症相关横纹肌瘤的发病率、进展及临床后果进行特征描述。
对154例结节性硬化症患者进行了评估，包括临床评估、心电图及超声心动图检查。在127例患者中鉴定出TSC1或TSC2基因的突变。
74例（48%）患者发现有心脏横纹肌瘤。肿瘤在2岁以下儿童中最为常见（65%）。55例儿童中有37例（68%）观察到肿瘤消退或消失。然而，其中6例（3.9%）年龄在10至15岁的患者中，发现心脏横纹肌瘤增大（3例）或新发（3例），青少年中心脏横纹肌瘤的发生率为11例中的6例（54%）。大多数（61%）肿瘤无临床症状。临床表现包括心力衰竭（5.4%）、心律失常（23%）及杂音（14.9%）。1名儿童死于心功能不全。TSC2组（54%）的心脏横纹肌瘤比TSC1组（20%）更常见。
大多数患有结节性硬化症的幼儿可见心脏横纹肌瘤。多数无临床后果且会自发消退。然而，在青春期，心脏横纹肌瘤可能会增大或新发；因此，应注意潜在的临床体征，并通过超声心动图进行监测。TSC2组中观察到心脏横纹肌瘤的情况更为常见。
