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06.12.2017 | Review

Primary cardiac tumors associated with genetic syndromes: a comprehensive review

Erschienen in: Pediatric Radiology | Ausgabe 2/2018

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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.

Caban C, Khan N, Hasbani DM et al (2017) Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet 10:1–8CrossRefPubMed

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

Salerno AE, Marsenic O, Meyers KE et al (2010) Vascular involvement in tuberous sclerosis. Pediatr Nephrol 25:1555–1561CrossRefPubMed

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

Ghadimi Mahani M, Lu JC, Rigsby CK et al (2014) MRI of pediatric cardiac masses. AJR Am J Roentgenol 202:971–981CrossRefPubMed

Watson GH (1991) Cardiac rhabdomyomas in tuberous sclerosis. Ann N Y Acad Sci 615:50–57CrossRefPubMed

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

Harding CO, Pagon RA (1990) Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 37:443–446CrossRefPubMed

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.

Athar M, Li C, Kim AL et al (2014) Sonic hedgehog signaling in basal cell nevus syndrome. Cancer Res 74:4967–4975CrossRefPubMedPubMedCentral

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.

Stratakis CA (2016) Carney complex: a familial lentiginosis predisposing to a variety of tumors. Rev Endocr Metab Disord 17:367–371CrossRefPubMedPubMedCentral

23.

Correa R, Salpea P, Stratakis CA (2015) Carney complex: an update. Eur J Endocrinol 173:M85–M97CrossRefPubMedPubMedCentral

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.

Azzam R, Abdelbar A, Yap KH et al (2014) Carney complex: fourth time excision of recurrent atrial myxoma via left thoracotomy. BMJ Case Rep. https://doi.org/10.1136/bcr-2013-201827

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.

Wang JG, Han J, Jiang T et al (2015) Cardiac paragangliomas. J Card Surg 30:55–60CrossRefPubMed

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.

El-Ashry AA, Cerfolio RJ, Singh SP et al (2015) Cardiac paraganglioma. J Card Surg 30:135–139CrossRefPubMed

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

Titel: Primary cardiac tumors associated with genetic syndromes: a comprehensive review
Publikationsdatum: 06.12.2017
Erschienen in: Pediatric Radiology / Ausgabe 2/2018
Print ISSN: 0301-0449
Elektronische ISSN: 1432-1998
DOI: https://doi.org/10.1007/s00247-017-4027-2

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Primary cardiac tumors associated with genetic syndromes: a comprehensive review

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