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Recurrent multi-cameral cardiac myxomas in a child with Carney complex

Published online by Cambridge University Press:  05 January 2023

Oscar Ballivián Burgos ,
Ericka Perez Albrecht ,
Jesus Pozo Robles ,
Raquel Barron Mondaca ,
Rodrigo Soto  and
Tom R. Karl Open the ORCID record for Tom R. Karl [Opens in a new window]
Oscar Ballivián Burgos
Affiliation:
Unidad DE Cardiología Pediátrica, Hospital del Niño “Dr. Ovidio Aliaga Uría”, La Paz, Bolivia
Ericka Perez Albrecht
Affiliation:
Unidad DE Cirugía Cardiaca Pediátrica, Hospital del Niño “Dr. Ovidio Aliaga Uría”, La Paz, Bolivia
Jesus Pozo Robles
Affiliation:
Unidad DE Cardiología Pediátrica, Hospital del Niño “Dr. Ovidio Aliaga Uría”, La Paz, Bolivia
Raquel Barron Mondaca
Affiliation:
Unidad DE Patología, Hospital del Niño “Dr. Ovidio Aliaga Uría”, La Paz, Bolivia
Rodrigo Soto
Affiliation:
Gift of Life International, Fresh Meadows, New York, USA
Tom R. Karl*
Affiliation:
Queensland Paediatric Cardiac Service, Queensland Paediatric Cardiac Research, University of Queensland, Brisbane, Australia
*
Author for correspondence: Professor Tom R. Karl, Queensland Paediatric Cardiac Service, Queensland Children’s Hospital, Stanley Street, Brisbane 4101, Australia. Tel: +14157588807. E-mails: [email protected], [email protected]
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Abstract

Cardiac myxoma is a relatively rare tumour, usually solitary, that occurs primarily in the left atrium of adults, but comprises only 30% of cardiac tumours in children. We recently treated a 12-year-old girl with multiple recurrent myxomas in three cardiac chambers(following surgical resection 3 years earlier). Genomic analysis showed the PKAR1A mutation typical for Carney complex

Keywords

Pseudoaneurysmcarotid accesspaediatric cardiac interventional procedures
Type
Original Article
Information
Cardiology in the Young , Volume 33 , Issue 11 , November 2023 , pp. 2164 - 2170
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Copyright
© The Author(s), 2023. Published by Cambridge University Press

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References

Board CNE. Carney Complex. In: (eds). Cancer. Net. Ed ASoCOA-Cancer. Net., 2012, http://www.cancer.net/cancer-types/carney/complex,Google Scholar
Correa, R, Salpea, P, Stratakis, CA. Carney complex: an update. Eur J Endocrinol 2015; 173: M85–97. DOI 10.1530/EJE-15-0209.10.1530/EJE-15-0209CrossRefGoogle ScholarPubMed
Robson, ME, Storm, CD, Weitzel, J, Wollins, DS, Offit, K. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 2010; 28: 893–901.10.1200/JCO.2009.27.0660CrossRefGoogle Scholar
Richards, S, Aziz, N, Bale, S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405–424.10.1038/gim.2015.30CrossRefGoogle ScholarPubMed
Carney, JA, Gordon, H, Carpenter, PC, Shenoy, BV, Go, VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 1985; 64: 270–283.10.1097/00005792-198507000-00007CrossRefGoogle ScholarPubMed
Bertherat, J, Horvath, A, Groussin, L, et al. Mutations in regulatory subunit type 1A of cyclic adenosine 5′-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 2009; 94: 2085–2091.10.1210/jc.2008-2333CrossRefGoogle ScholarPubMed
Veugelers, M, Bressan, M, McDermott, DA, et al. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. N Engl J Med 2004; 351: 460–469.10.1056/NEJMoa040584CrossRefGoogle ScholarPubMed
Carney, JA. Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. Semin Dermatol 1995; 14: 90–98.10.1016/S1085-5629(05)80003-3CrossRefGoogle ScholarPubMed
Kirschner, LS, Sandrini, F, Monbo, J, Lin, JP, Carney, JA, Stratakis, CA. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Hum Mol Genet 2000; 9: 3037–3046.10.1093/hmg/9.20.3037CrossRefGoogle ScholarPubMed
Stratakis, CA, Kirschner, LS, Carney, JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001; 86: 4041–4046.10.1210/jcem.86.9.7903CrossRefGoogle ScholarPubMed
Akbas, H, Kirali, K, Daglar, B, Kutay, V, Isik, O, Yakut, C. Surgical treatment of left-atrial myxoma in Carney’s complex. Thorac Cardiovasc Surg 1997; 45: 148–150.10.1055/s-2007-1013711CrossRefGoogle ScholarPubMed
Boikos, SA, Stratakis, CA. Carney complex: the first 20 years. Curr Opin Oncol 2007; 19: 24–29.10.1097/CCO.0b013e32801195ebCrossRefGoogle ScholarPubMed
Mateus, C, Palangie, A, Franck, N, et al. Heterogeneity of skin manifestations in patients with Carney complex. J Am Acad Dermatol 2008; 59: 801–810.10.1016/j.jaad.2008.07.032CrossRefGoogle ScholarPubMed
Horvath, A, Stratakis, CA. Carney complex and lentiginosis. Pigment Cell Melanoma Res 2009; 22: 580–587.10.1111/j.1755-148X.2009.00613.xCrossRefGoogle ScholarPubMed
Rothenbuhler, A, Stratakis, CA. Clinical and molecular genetics of Carney complex. Best Pract Res Clin Endocrinol Metab 2010; 24: 389–399.10.1016/j.beem.2010.03.003CrossRefGoogle ScholarPubMed
Tsilou, ET, Chan, CC, Sandrini, F, et al. Eyelid myxoma in Carney complex without PRKAR1A allelic loss. Am J Med Genet A 2004; 130A: 395–397.10.1002/ajmg.a.30279CrossRefGoogle ScholarPubMed
Courcoutsakis, NA, Tatsi, C, Patronas, NJ, Lee, CC, Prassopoulos, PK, Stratakis, CA. The complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation. Insights Imaging. 2013; 4: 119–133.10.1007/s13244-012-0208-6CrossRefGoogle ScholarPubMed
Stratakis, CA, Courcoutsakis, NA, Abati, A, et al. Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex). J Clin Endocrinol Metab 1997; 82: 2037–2043.10.1210/jcem.82.7.4079CrossRefGoogle ScholarPubMed
Pitsava, G, Zhu, C, Sundaram, R, Mills, JL, Stratakis, CA. Predicting the risk of cardiac myxoma in Carney complex. Genet Med 2021; 23: 80–85.10.1038/s41436-020-00956-3CrossRefGoogle ScholarPubMed
Shinfeld, A, Katsumata, T, Westaby, S. Recurrent cardiac myxoma: seeding or multifocal disease? Ann Thorac Surg 1998; 66: 285–288.10.1016/S0003-4975(98)00481-0CrossRefGoogle ScholarPubMed
Mahilmaran, A, Seshadri, M, Nayar, PG, Sudarsana, G, Abraham, KA. Familial cardiac myxoma: Carney’s complex. Tex Heart Inst J 2003; 30: 80–82.Google ScholarPubMed

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