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伴有室性心动过速的心脏纤维瘤:痣样基底细胞癌综合征的一种罕见临床表现

Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome.

作者信息

Ritter Alyssa L, Granquist Eric J, Iyer V Ramesh, Izumi Kosuke

机构信息

Division of Human Genetics.

Division of Cardiology, Department of Pediatrics.

出版信息

Mol Syndromol. 2018 Jul;9(4):219-223. doi: 10.1159/000489056. Epub 2018 May 19.

Abstract

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.

摘要

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。

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本文引用的文献

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First evidence of genotype-phenotype correlations in Gorlin syndrome.戈林综合征基因型与表型相关性的首个证据。
J Med Genet. 2017 Aug;54(8):530-536. doi: 10.1136/jmedgenet-2017-104669. Epub 2017 Jun 8.
5
Pediatric cardiac tumors: a 45-year, single-institution review.小儿心脏肿瘤:一项为期45年的单机构回顾研究。
World J Pediatr Congenit Heart Surg. 2015 Apr;6(2):215-9. doi: 10.1177/2150135114563938.
10
Loss of the PTCH1 gene locus in cardiac fibroma.心脏纤维瘤中PTCH1基因位点的缺失。
Cardiovasc Pathol. 2008 Mar-Apr;17(2):93-7. doi: 10.1016/j.carpath.2007.08.001. Epub 2007 Oct 24.

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