دورية أكاديمية
أعرض في EDS

Clinical and genetic description of patients with prenatally identified cardiac tumors.

التفاصيل البيبلوغرافية
العنوان: Clinical and genetic description of patients with prenatally identified cardiac tumors.
المؤلفون: Mariscal-Mendizábal LF; Human Genetics and Genomics Department, Instituto Nacional de Perinatología, Mexico City, Mexico., Sevilla-Montoya R; Human Genetics and Genomics Department, Instituto Nacional de Perinatología, Mexico City, Mexico., Martínez-García AJ; Fetal Maternal Medicine Department, Instituto Nacional de Perinatología, Mexico City, Mexico., Alaez-Verson C; Genomics Diagnostic Laboratory, Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Monroy-Muñoz IE; Human Genetics and Genomics Department, Instituto Nacional de Perinatología, Mexico City, Mexico., Pérez-Durán J; Human Genetics and Genomics Department, Instituto Nacional de Perinatología, Mexico City, Mexico., Cerón-Albarrán JA; Human Genetics and Genomics Department, Instituto Nacional de Perinatología, Mexico City, Mexico., Carrillo-Sánchez K; Genomics Diagnostic Laboratory, Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Molina-Garay C; Genomics Diagnostic Laboratory, Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Flores-Lagunes LL; Genomics Diagnostic Laboratory, Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Jimenez-Olivares M; Genomics Diagnostic Laboratory, Instituto Nacional de Medicina Genómica, Mexico City, Mexico., Aguinaga-Ríos M; Human Genetics and Genomics Department, Instituto Nacional de Perinatología, Mexico City, Mexico.
المصدر: Prenatal diagnosis [Prenat Diagn] 2019 Oct; Vol. 39 (11), pp. 998-1004. Date of Electronic Publication: 2019 Jul 23.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Chichester, [Sussex]; New York : Wiley, c1981-
مواضيع طبية MeSH: Heart Neoplasms/*genetics , Rhabdomyoma/*genetics , Tuberous Sclerosis Complex 1 Protein/*genetics , Tuberous Sclerosis Complex 2 Protein/*genetics, Adult ; Cohort Studies ; Echocardiography ; Female ; Heart Neoplasms/diagnosis ; Humans ; Male ; Pregnancy ; Rhabdomyoma/diagnosis ; Ultrasonography, Prenatal
مستخلص: Objective: Rhabdomyomas are the most common type of prenatal cardiac tumors. When isolated, 50% to 70% are related to the tuberous sclerosis complex (TSC). The aim of this study was to reinforce the importance of additional clinical data in patients with prenatal heart tumors.
Methods: From 2010 to 2017, 10 prenatally detected cardiac tumors were referred to the Genetics Department, and a complete family history was taken. Postnatal echocardiographic and full clinical evaluation were completed. Next generation sequencing (NGS) of the TSC1 and TSC2 genes was performed.
Results: The 10 cases were postnatally confirmed as rhabdomyomas. Four de novo and four family cases were detected, and only one patient was previously aware of the TSC diagnosis. Molecular analysis by NGS was performed in four patients with three TSC2 mutations, two of which were previously reported and one not.
Discussion: Prenatal cardiac tumors are associated with TSC in 60% of cases. Prenatal diagnosis of cardiac tumors permits a further analysis of family members using the fetus as a clue for familial disease diagnosis.
(© 2019 John Wiley & Sons, Ltd.)
References: DeVore GR, Hakim S, Kleinman CS, Hobbins JC. The in utero diagnosis of an interventricular septal cardiac rhabdomyoma by means of real-time-directes, M-mode echocardiography. Am J Obstet Gynecol. 1982;143(8):967-969.
Chitayat D, Mcgillivray BC, Diamant S, Wittmann BK, Sandor GGS. Role of prenatal detection of cardiac sclerosis-report of two cases. Prenat Diagn. 1988;8(8):577-584.
Potondi A. Congenital Rhabdomyoma of the heart and intrauterine digitalis poisoning. J Forensic Sci. 1966;11(1):81-88.
Soltan MH, Keohane C. Hydrops fetalis due to congenital cardiac rhabdomyoma: case report. BJOG. 1981;88(7):771-773.
Bejiqi R, Retkoceri R, Bejiqi H. Prenatally diagnosis and outcome of fetuses with cardiac rhabdomyoma-single centre experience. Maced J Med Sci. 2017;5(2):193-196.
Sciacca P, Giacchi V, Mattia C, et al. Rhabdomyomas and Tuberous sclerosis complex: our experience in 33 cases. BMC Cardiovasc Disord. 2014;14(1):1-11.
Bader R, Chitayat D, Edmond K, et al. Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr. 2003;143(5):620-624.
Emir S, Hacisalihoglu S, Ozyoruk D, et al. Assessment of tumors in children with tuberous sclerosis: a single centre's experience. Türk Pediatr Arşivi. 2017;52(1):30-34.
Shi L, Wu L, Fang H, et al. Identification and clinical course of 166 pediatric cardiac tumors. Eur J Pediatr. 2017;176(2):253-260.
Northrup H, Krueger DA. Tuberous sclerosis complex diagnostic update: recommendations of 2012 International Tuberous Sclerosis Complex Consensus Conference. NIH Public Access. 2013;49(4):243-254.
Goyer I, Dahdah N, Major P. Pediatric neurology use of mTOR inhibitor everolimus in three neonates for treatment of tumor lesions associated with tuberous sclerosis complex. Pediatr Neurol. 2015;52:4-7.
Colaneri M, Quarti A, Pozzi M. Everolimus-induced near-resolution of giant cardiac rhabdomyomas and large renal angiomyolipoma in a newborn with tuberous sclerosis complex. Cardiol Yung. 2016;26(5):1025-1028.
Kocabaş A, Ekici F, Çetin II, et al. Cardiac rhabdomyomas associated with tuberous sclerosis complex in 11 children: presentation to outcome. Pediatr Hematol Oncol. 2013;30(2):71-79.
Aw F, Raboisson M-J, Boutin C, Major P, Dahdah N. Accelerated cardiac rhabdomyoma regression with everolimus in infants with tuberous sclerosis complex. Pediatr Cardiol. 2017;38(2):394-400.
Ninic S, Kalaba M, Vukomanovic V, et al. Successful use of sirolimus for refractory atrial ectopic tachycardia in a child with cardiac rhabdomyoma. Ann Noninvasive Electrocardiol. 2017;22(4):1-4.
Martínez-García A, Michel-Macías C, Cordero-González G, et al. Giant left ventricular rhabdomyoma treated successfully with everolimus: case report and review of literature. Cardiol Young. 2018;28(7):903-909.
Barnes BT, Procaccini D, Crino J, et al. Maternal sirolimus therapy for fetal cardiac rhabdomyomas. N Engl J Med. 2018;378(19):1844-1845.
Chao AS, Chao A, Wang TH, et al. Outcome of antenatally diagnosed cardiac rhabdomyoma: case series and a meta-analysis. Ultrasound Obstet Gynecol. 2008;31(3):289-295.
Rosset C, Netto CBO, Ashton-Prolla P. TSC1 and TSC2 gene mutations and their implications for treatment in tuberous sclerosis complex: a review. Genet Mol Biol. 2017;40(1):69-79.
Muller KE, Marotti JD, de Abreu FB, et al. Targeted next-generation sequencing detects a high frequency of potentially actionable mutations in metastatic breast cancers. Exp Mol Pathol. 2016;100(3):421-425.
المشرفين على المادة: 0 (TSC1 protein, human)
0 (TSC2 protein, human)
0 (Tuberous Sclerosis Complex 1 Protein)
0 (Tuberous Sclerosis Complex 2 Protein)
تواريخ الأحداث: Date Created: 20190711 Date Completed: 20200706 Latest Revision: 20200706
رمز التحديث: 20231215
DOI: 10.1002/pd.5521
PMID: 31291687
قاعدة البيانات: MEDLINE
الوصف
تدمد:1097-0223
DOI:10.1002/pd.5521