心脏横纹肌瘤是Birt Hogg Dubé综合征的一个特征吗？
Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?
作者信息
Bondavalli Davide, White Susan M, Steer Andrew, Pflaumer Andreas, Winship Ingrid
机构信息
Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Melbourne, Australia; Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Melbourne, Australia; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy.
出版信息
Am J Med Genet A. 2015 Apr;167A(4):802-4. doi: 10.1002/ajmg.a.36917. Epub 2015 Feb 5.
We report on a child with two cardiac rhabdomyomas. Initially, a diagnosis of Tuberous Sclerosis Complex (TSC) syndrome was suspected, although this could neither be confirmed clinically nor genetically. Coincidentally, Birt Hogg Dubé syndrome (BHD) had been previously diagnosed in members of the extended family; this prompted a diagnostic re-evaluation of the child who was found to have the known family FLCN mutation. We recommend consideration of cardiac rhabdomyomas as part of the clinical BHD spectrum.
我们报告了一名患有两个心脏横纹肌瘤的儿童。最初，怀疑患有结节性硬化症（TSC）综合征，尽管在临床和基因方面均无法确诊。巧合的是，该大家庭的成员先前已被诊断出患有Birt Hogg Dubé综合征（BHD）；这促使对该儿童进行诊断重新评估，结果发现其具有已知的家族性FLCN突变。我们建议将心脏横纹肌瘤视为临床BHD谱系的一部分。
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