Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on sleep in brain health

LIVE: Thursday 2nd May 2024, 18:00-19:30 (CEST)

Quality sleep is essential for health. But what happens to our brains when sleep patterns are disturbed? Join our experts to explore the interplay between sleep disruption and neurological diseases, and the questions that you need to be asking your patients to help you prevent the harmful effects of sleep deprivation.
ADVANCED SEARCH
Log in
Top
Pediatric Radiology
Published in: Pediatric Radiology 2/2018

01-02-2018 | Review

Primary cardiac tumors associated with genetic syndromes: a comprehensive review

Authors: Elizabeth Lee, Maryam Ghadimi Mahani, Jimmy C. Lu, Adam L. Dorfman, Ashok Srinivasan, Prachi P. Agarwal

Published in: Pediatric Radiology | Issue 2/2018

Login to get access

Abstract

Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management.
Literature
1.
Caban C, Khan N, Hasbani DM et al (2017) Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet 10:1–8CrossRefPubMed
2.
Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol 49:243–254CrossRefPubMedPubMedCentral
3.
Salerno AE, Marsenic O, Meyers KE et al (2010) Vascular involvement in tuberous sclerosis. Pediatr Nephrol 25:1555–1561CrossRefPubMed
4.
Tresoldi S, Munari A, Di Leo G et al (2015) Myocardial fatty foci in adult patients with tuberous sclerosis complex: association with gene mutation and multiorgan involvement. Radiology 277:398–405CrossRefPubMed
5.
Ghadimi Mahani M, Lu JC, Rigsby CK et al (2014) MRI of pediatric cardiac masses. AJR Am J Roentgenol 202:971–981CrossRefPubMed
6.
7.
von Ranke FM, Zanetti G, e Silva JL et al (2015) Tuberous sclerosis complex: state-of-the-art review with a focus on pulmonary involvement. Lung 193:619–627CrossRef
8.
Harding CO, Pagon RA (1990) Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 37:443–446CrossRefPubMed
9.
Verhaaren HA, Vanakker O, De Wolf D et al (2003) Left ventricular outflow obstruction in rhabdomyoma of infancy: meta-analysis of the literature. J Pediatr 143:258–263CrossRefPubMed
10.
Aw F, Goyer I, Raboisson MJ et al (2017) Accelerated cardiac rhabdomyoma regression with everolimus in infants with tuberous sclerosis complex. Pediatr Cardiol 38:394–400CrossRefPubMed
11.
Chao AS, Chao A, Wang TH et al (2008) Outcome of antenatally diagnosed cardiac rhabdomyoma: case series and a meta-analysis. Ultrasound Obstet Gynecol 31:289–295CrossRefPubMed
12.
Hinton RB, Prakash A, Romp RL et al (2014) Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the international tuberous sclerosis consensus group. J Am Heart Assoc 3:e001493CrossRefPubMedPubMedCentral
13.
14.
Kimonis VE, Goldstein AM, Pastakia B et al (1997) Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299–308CrossRefPubMed
15.
John AM, Schwartz RA (2016) Basal cell naevus syndrome: an update on genetics and treatment. Br J Dermatol 174:68–76CrossRefPubMed
16.
O'Donnell DH, Abbara S, Chaithiraphan V et al (2009) Cardiac tumors: optimal cardiac MR sequences and spectrum of imaging appearances. AJR Am J Roentgenol 193:377–387CrossRefPubMed
17.
Beroukhim RS, Prakash A, Buechel ER et al (2011) Characterization of cardiac tumors in children by cardiovascular magnetic resonance imaging: a multicenter experience. J Am Coll Cardiol 58:1044–1054CrossRefPubMed
18.
Tao TY, Yahyavi-Firouz-Abadi N, Singh GK et al (2014) Pediatric cardiac tumors: clinical and imaging features. Radiographics 34:1031–1046CrossRefPubMed
19.
Yan XG, Jia B, Zhu BX et al (2014) Successful resection of a primary cardiac fibroma in a neonate: report of a case. Surg Today 44:1768–1770CrossRefPubMed
20.
Yan AT, Coffey DM, Li Y et al (2006) Images in cardiovascular medicine. Myocardial fibroma in Gorlin syndrome by cardiac magnetic resonance imaging. Circulation 114:e376–e379CrossRefPubMed
21.
Bree AF, Shah MR, BCNS Colloquium Group (2011) Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet 155A:2091–2097CrossRefPubMed
22.
23.
24.
Stratakis CA, Salpea P, Raygada M (1993) Carney complex. In: Pagon RA, Adam MP, Ardinger HH et al (eds) GeneReviews. University of Washington, Seattle
25.
Ridge CA, Killeen RP, Sheehan KM et al (2010) Giant right atrial myxoma: characterization with cardiac magnetic resonance imaging. Clin Imaging 34:231–233CrossRefPubMed
26.
Abbas A, Garfath-Cox KA, Brown IW et al (2015) Cardiac MR assessment of cardiac myxomas. Br J Radiol 88:20140599CrossRefPubMed
27.
Shin W, Choe YH, Kim SM et al (2014) Detection of cardiac myxomas with non-contrast chest CT. Acta Radiol 55:273–278CrossRefPubMed
28.
Colin GC, Dymarkowski S, Gerber B et al (2016) Cardiac myxoma imaging features and tissue characteristics at cardiovascular magnetic resonance. Int J Cardiol 202:950–951CrossRefPubMed
29.
Jain S, Maleszewski JJ, Stephenson CR et al (2015) Current diagnosis and management of cardiac myxomas. Expert Rev Cardiovasc Ther 13:369–375CrossRefPubMed
30.
Edwards A, Bermudez C, Piwonka G et al (2002) Carney's syndrome: complex myxomas. Report of four cases and review of the literature. Cardiovasc Surg 10:264–275CrossRefPubMed
31.
Kwon OY, Kim GJ, Jang WS et al (2016) Fourth recurrence of cardiac myxoma in a patient with the carney complex. Korean J Thorac Cardiovasc Surg 49:119–121CrossRefPubMedPubMedCentral
32.
33.
Tamura Y, Seki T (2014) Carney complex with right ventricular myxoma following second excision of left atrial myxoma. Ann Thorac Cardiovasc Surg 20:882–884CrossRefPubMed
34.
Carney JA (2009) Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. J Clin Endocrinol Metab 94:3656–3662CrossRefPubMed
35.
Benn DE, Robinson BG, Clifton-Bligh RJ (2015) 15 years of paraganglioma: Clinical manifestations of paraganglioma syndromes types 1-5. Endocr Relat Cancer 22:T91–T103
36.
Raue F, Frank-Raue K (2010) Update multiple endocrine neoplasia type 2. Fam Cancer 9:449–457
37.
Bernier A, Larbrisseau A, Perreault S (2016) Café-au-lait macules and neurofibromatosis type 1: A review of the literature. Pediatr Neurol 60:24–29
38.
Frantzen C, Klasson TD, Links TP et al (1993) Von Hippel-Landau syndrome. In: Pagon RA, Adam MP, Ardinger HH et al (eds) GeneReviews(R). Seattle, WA
39.
40.
Huo JL, Choi JC, DeLuna A et al (2012) Cardiac paraganglioma: diagnostic and surgical challenges. J Card Surg 27:178–182CrossRefPubMed
41.
Alghamdi AA, Sheth T, Manowski Z et al (2009) Utility of cardiac CT and MRI for the diagnosis and preoperative assessment of cardiac paraganglioma. J Card Surg 24:700–701CrossRefPubMed
42.
Orr LA, Pettigrew RI, Churchwell AL et al (1997) Gadolinium utilization in the MR evaluation of cardiac paraganglioma. Clin Imaging 21:404–406CrossRefPubMed
43.
Hamilton BH, Francis IR, Gross BH et al (1997) Intrapericardial paragangliomas (pheochromocytomas): imaging features. AJR Am J Roentgenol 168:109–113CrossRefPubMed
44.
Araoz PA, Mulvagh SL, Tazelaar HD et al (2000) CT and MR imaging of benign primary cardiac neoplasms with echocardiographic correlation. Radiographics 20:1303–1319CrossRefPubMed
45.
Brouwers FM, Eisenhofer G, Tao JJ et al (2006) High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. J Clin Endocrinol Metab 91:4505–4509CrossRefPubMed
46.
Erlic Z, Neumann HP (2009) When should genetic testing be obtained in a patient with phaeochromocytoma or paraganglioma? Clin Endocrinol 70:354–357CrossRef
47.
Babic B, Patel D, Aufforth R et al (2017) Pediatric patients with pheochromocytoma and paraganglioma should have routine preoperative genetic testing for common susceptibility genes in addition to imaging to detect extra-adrenal and metastatic tumors. Surgery 161:220–227CrossRefPubMed
48.
Amar L, Bertherat J, Baudin E et al (2005) Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 23:8812–8818CrossRefPubMed
49.
50.
Bjorklund P, Pacak K, Crona J (2016) Precision medicine in pheochromocytoma and paraganglioma: current and future concepts. J Intern Med 280:559–573CrossRefPubMed
51.
Welander J, Soderkvist P, Gimm O (2011) Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer 18:R253–R276CrossRefPubMed
52.
Toledo RA, Burnichon N, Cason A et al (2017) Consensus statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. Nat Rev Endocrinol 13:233–247CrossRefPubMed
Metadata
Title
Primary cardiac tumors associated with genetic syndromes: a comprehensive review
Authors
Elizabeth Lee
Maryam Ghadimi Mahani
Jimmy C. Lu
Adam L. Dorfman
Ashok Srinivasan
Prachi P. Agarwal
Publication date
01-02-2018
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Radiology / Issue 2/2018
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-017-4027-2

Other articles of this Issue 2/2018

Pediatric Radiology 2/2018 Go to the issue

Original Article

IVC filter placements in children: nationwide comparison of practice patterns at adult and children’s hospitals using the Kids’ Inpatient Database

Letter to the Editor

Two-point mDIXON turbo spin-echomagnetic resonance imaging of thoracic outlet syndrome at 3-T for robust fat suppression

Original Article

Radiation dose reduction through combining positron emission tomography/computed tomography (PET/CT) and diagnostic CT in children and young adults with lymphoma

Original Article

Use of ultrasound in diagnosing postoperative small-bowel intussusception in pediatric surgical oncology patients: a single-center retrospective review

Original Article

Portable abdomen radiography: moving to thickness-based protocols

Original Article

Pediatric lymphangiography, thoracic duct embolization and thoracic duct disruption: a single-institution experience in 11 children with chylothorax