Webb D W, Thomas R D, Osborne J P
Bath Unit for Research into Paediatrics, Royal United Hospital, Combe Park.
Arch Dis Child. 1993 Mar;68(3):367-70. doi: 10.1136/adc.68.3.367.
A search for children presenting with signs or symptoms of cardiac rhabdomyomas was made through members of the paediatric section of the British Cardiac Society in order to establish their birth incidence, presenting features, clinical course, and the frequency of a concurrent diagnosis of tuberous sclerosis. Fifteen children were identified and 12 had tuberous sclerosis (80%). Heart failure was the presentation in six, five of whom died; six presented because of a murmur and three because of arrhythmias. The prevalence of echocardiographic evidence of cardiac rhabdomyomas in a population of patients with tuberous sclerosis was established. Twenty individuals had echocardiography and eight had echodensities consistent with cardiac rhabdomyomas. It is concluded that the minimum birth incidence for children presenting because of the effects of cardiac rhabdomyomas is 1/326,000 and a minimum of 80% have tuberous sclerosis. In a population of patients with tuberous sclerosis a minimum of 60% under 18 years have cardiac rhabdomyomas.
通过英国心脏病学会儿科分会成员，对出现心脏横纹肌瘤体征或症状的儿童进行了调查，以确定其出生发病率、临床表现、临床病程以及同时诊断为结节性硬化症的频率。共确定了15名儿童，其中12名患有结节性硬化症（80%）。6名儿童表现为心力衰竭，其中5名死亡；6名因杂音就诊，3名因心律失常就诊。确定了结节性硬化症患者群体中心脏横纹肌瘤的超声心动图证据患病率。20名个体接受了超声心动图检查，8名有与心脏横纹肌瘤一致的回声密度。得出的结论是，因心脏横纹肌瘤影响而就诊的儿童最低出生发病率为1/326,000，至少80%患有结节性硬化症。在结节性硬化症患者群体中，至少60%的18岁以下患者患有心脏横纹肌瘤。
