Ritter Alyssa L, Granquist Eric J, Iyer V Ramesh, Izumi Kosuke
Division of Human Genetics.
Division of Cardiology, Department of Pediatrics.
Mol Syndromol. 2018 Jul;9(4):219-223. doi: 10.1159/000489056. Epub 2018 May 19.
Pediatric cardiac tumors are rare and often benign with an incidence of approximately 0.03-0.32% and can be associated with genetic conditions. For example, approximately 3% of individuals with nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, have a cardiac fibroma. NBCCS is also characterized by lamellar or early calcification of the falx, jaw keratocysts, palmar and/or plantar pits, and a predisposition for basal cell carcinomas. Given the management implications of NBCCS, including appropriate cancer screenings and precautions, prompt identification of affected individuals is critical. We report a case of a 6-year-old female presenting with ventricular tachycardia secondary to cardiac fibroma. After diagnosis of recurrent jaw keratocysts, she was clinically and molecularly diagnosed with NBCCS. Identification of a cardiac fibroma should prompt careful assessment of past medical and family history with consideration of a diagnosis of NBCCS.
小儿心脏肿瘤较为罕见,通常为良性,发病率约为0.03 - 0.32%,且可能与遗传疾病相关。例如,约3%患有痣样基底细胞癌综合征(NBCCS)(又称戈林综合征)的个体患有心脏纤维瘤。NBCCS的特征还包括大脑镰板层状或早期钙化、颌骨角化囊肿、手掌和/或足底凹痕,以及易患基底细胞癌。鉴于NBCCS的管理意义,包括适当的癌症筛查和预防措施,及时识别受影响个体至关重要。我们报告一例6岁女性因心脏纤维瘤继发室性心动过速的病例。在诊断出复发性颌骨角化囊肿后,她经临床和分子诊断为NBCCS。发现心脏纤维瘤应促使仔细评估既往病史和家族史,并考虑NBCCS的诊断。