Literature DB >> 30140199

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

Alyssa L Ritter1,2, Eric J Granquist3, V Ramesh Iyer2, Kosuke Izumi1,4.   

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.

Entities:  

Keywords:  Arrhythmia; Cardiac fibroma; Cardiac tumor; Gorlin syndrome; Nevoid basal cell carcinoma syndrome; Ventricular tachycardia

Year:  2018        PMID: 30140199      PMCID: PMC6103330          DOI: 10.1159/000489056

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN: 1661-8769


  15 in total

1.  Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS).

Authors:  Alanna F Bree; Maulik R Shah
Journal:  Am J Med Genet A       Date:  2011-08-10       Impact factor: 2.802

2.  Cardiac tumors and associated arrhythmias in pediatric patients, with observations on surgical therapy for ventricular tachycardia.

Authors:  Christina Y Miyake; Pedro J Del Nido; Mark E Alexander; Frank Cecchin; Charles I Berul; John K Triedman; Tal Geva; Edward P Walsh
Journal:  J Am Coll Cardiol       Date:  2011-10-25       Impact factor: 24.094

3.  Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.

Authors:  Shuang Pan; Qing Dong; Li-Sha Sun; Tie-Jun Li
Journal:  Clin Cancer Res       Date:  2010-01-12       Impact factor: 12.531

Review 4.  Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.

Authors:  William D Foulkes; Junne Kamihara; D Gareth R Evans; Laurence Brugières; Franck Bourdeaut; Jan J Molenaar; Michael F Walsh; Garrett M Brodeur; Lisa Diller
Journal:  Clin Cancer Res       Date:  2017-06-15       Impact factor: 12.531

5.  Cardiac fibroma as an inherited manifestation of nevoid basal-cell carcinoma syndrome.

Authors:  Torsten Bossert; Thomas Walther; David Vondrys; Jan Fritz Gummert; Martin Kostelka; Friedrich Wilhelm Mohr
Journal:  Tex Heart Inst J       Date:  2006

6.  First evidence of genotype-phenotype correlations in Gorlin syndrome.

Authors:  D Gareth Evans; Deemesh Oudit; Miriam J Smith; David Rutkowski; Ernest Allan; William G Newman; John T Lear
Journal:  J Med Genet       Date:  2017-06-08       Impact factor: 6.318

7.  Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.

Authors:  D G Evans; E Howard; C Giblin; T Clancy; H Spencer; S M Huson; F Lalloo
Journal:  Am J Med Genet A       Date:  2010-02       Impact factor: 2.802

8.  Somatic copy number losses on chromosome 9q21.33q22.33 encompassing the PTCH1 loci associated with cardiac fibroma.

Authors:  Qianqian Zhang; Tongjian Wang; Dong Wang; Jinxiu Liu; Wenqian Yu; Xiangju Liu; Xiaoli Xiang; Kai Dong; Feng You; Guichun Zhang; Jifeng Ju; Meng Zhu; Wenyuan Duan; Bin Qiao
Journal:  Cancer Genet       Date:  2015-09-30

9.  Loss of the PTCH1 gene locus in cardiac fibroma.

Authors:  David Scanlan; Stanley J Radio; Marilu Nelson; Ming Zhou; Renae Streblow; Vinay Prasad; Christine Reyes; Deborah Perry; Scott Fletcher; Julia A Bridge
Journal:  Cardiovasc Pathol       Date:  2007-10-24       Impact factor: 2.185

10.  Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant-negative mechanism.

Authors:  Gary R Hime; Hania Lada; Michael J Fietz; Susan Gillies; Abraham Passmore; Carol Wicking; Brandon J Wainwright
Journal:  Dev Dyn       Date:  2004-04       Impact factor: 3.780

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  1 in total

1.  Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review.

Authors:  Krzysztof Szczałuba; Ewa Makuła; Anna Piórecka-Makuła; Justyna Sicińska; Małgorzata Rydzanicz; Piotr Gasperowicz; Rafał Płoski; Bożena Werner
Journal:  J Appl Genet       Date:  2020-09-22       Impact factor: 3.240

  1 in total

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