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Reliable, easy-to-read patient information on common medical conditions β€” written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Hamartoma differential diagnosis

Introduction

Overview

Overview

Hamartomas must be differentiated from other diseases that cause abnormal tissue growth and calcifications, such as calcified metastases and lipomas.[1]

Differentiating Hamartoma from other Diseases

Differentiating Hamartoma from other Diseases

Hypothalamic Hamartomas

  • The differential diagnosis is broadly that of suprasellar and hypothalamic lesions, although the imaging characteristics of hypothalamic hamartomas significantly reduces the differential.
  • Hypothalamic-chiasmatic glioma is the main differential.
  • Other lesions encountered in the region either have markedly different signal intensity or demonstrate enhancement on MRI.[2]
  • The table below summarizes the findings that differentiate hypothalamic hamartoma from other conditions that are also suprasellar and hypothalamic lesions.[3]
Disease Findings
Hypothalamic-chiasmatic glioma
  • Hypothalamic-optochiasmatic gliomas are a subset of astrocytic tumors which have tendency to occur in patients with neurofibromatosis type 1.
  • These may involve the optic nerves, the optic chiasm, and the optic tracts.
  • Between 20 and 50% of patients with hypothalamic gliomas have a positive family history of von Recklinghausen disease (NF-1).
Craniopharyngioma
Rathke’s cleft cyst
  • Rathke’s cleft cyst is a benign growth found on the pituitary gland in the brain, specifically a fluid-filled cyst in the posterior portion of the anterior pituitary gland.
  • Rathke’s cleft cyst occurs when the Rathke’s pouch does not develop properly and ranges in size from 2 to 40mm in diameter.
  • Asymptomatic cysts are commonly detected during autopsies in 2-26% of individuals who have died of unrelated causes.
  • Females are more commonly affected than males.
Pituitary macroadenoma

Pulmonary Hamartomas

  • The differential diagnosis of pulmonary hamartoma is dependent on CT scan imaging features.
  • The differential is dependent on whether fat or calcification is identifiable within the lesion. If fat is visualized then the differential is narrow, with almost all cases representing pulmonary hamartoma.
  • If neither fat nor calcification is present, then the differential is that of a solitary pulmonary nodule and is significantly broader.
  • The table below summarizes the findings that differentiate pulmonary hamartoma from other conditions that cause a fat containing solitary pulmonary nodule.
Disease Findings
Lipoma
  • Lipoma is a fat exclusive, well circumcised mass
  • Lipomas are likely to have been present for many years and may change size with weight fluctuation
  • These can also be an incidental finding
  • In 5-15% of patients lipomas are multiple and approximately a third of these will be familial[2]
Myelolipoma
  • Myelolipoma is a very rare, benign pulmonary lesion, usually presenting as an asymptomatic pulmonary nodule
  • Myelolipoma is mainly composed of mature adipose tissue and normal hematopoietic cells.[4]
Metastasis
  • Pulmonary metastases are common and usually asymptomatic, with constitutional symptoms relating to disseminated metastatic disease and those attributable to the primary tumor dominating
  • Common symptoms include hemoptysis and pneumothorax
  • Pulmonary metastases may be single or multiple[2]
Pulmonary Chondroma
  • Pulmonary chondromas are usually associated with Carney’s triad
  • On CT scan, chondromas appear as smoothly marginated, round, or slightly lobulated, small areas of fat
  • Pulmonary chondromas are common in adolescents or young adults[5]

Heart Hamartomas

  • The table below summarizes the findings that differentiate cardiac hamartoma from other conditions that cause a fat containing lesion within the striated muscle of the heart.
Disease Findings
Hibernoma
  • Hibernoma is a benign neoplasm of vestigial brown fat.
  • The majority of patients present with a slow-growing, painless, solitary mass, usually of the subcutaneous tissues.
  • In general, imaging studies show a well-defined, heterogeneous mass, usually showing a mass which is hypointense to subcutaneous fat on magnetic resonance T1-weight images. Serpentine, thin, low signal bands (septations or vessels) are often seen throughout the tumor.
Metastasis

Spleen, Kidney and Vascular Organs

  • The table below summarizes the findings that differentiate spleen, kidneys, and vascular organs from other conditions that cause incidental findings similar to hamartoma.
Disease Findings
Splenic hemangioma
Retroperitoneal liposarcoma
  • Retroperitoneal liposarcoma is the most common primary retroperitoneal neoplasm.
  • Retroperitoneal liposarcoma is a subtype of liposarcoma, a malignant tumor of mesenchymal origin that may arise in any fat-containing region of the body.
Adrenal myelolipoma
  • Adrenolipomas are rare benign neoplasms that histologically consist of fat and bone marrow in varying proportions.
  • In general most tumors are unilateral and they show no predilection to one particular side. Symptoms of adrenolipoma include abdominal pain, hematuria, and abdominal fullness.
  • They are rich in adipose tissue and hematopoietic elements.
  • Most lesions are small and asymptomatic.
  • Adrenolipomas are usually detected incidentally in autopsy or by imaging studies performed for other reasons.

Differential Diagnosis of Cardiac Fibroma or Fibrous Hamartoma

Cardiac fibroma or fibrous hamartoma should be differentiated from other cardiac tumors that present as a cardiac mass. The following are the differentials:[8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54]

Site of Tumor Malignant Potential Type of Tumor Tissue of Origin Age of Presentation Location Morphology Signs and Symptoms MRI Findings
Systemic Manifestations Cardiac Manifestations Embolic Manifestations
Primary Cardiac Tumor Primary Benign Myxoma
  • Between third to sixth decade of life
  • 1-15 cm in diameter
  • Pedunculated
  • Polypoid
  • Smooth and lobulated
  • Villous and pappillary appearance associated with embolization
Rhabdomyoma
  • Striated Muscle
  • 1-3 cm in size
  • Yellow-gray color
  • Firm
  • Circumscribed lobulated
  • Majority multiple if associated with tuberous sclerosis (of those with no association, 50% are single)
  • Multiple masses isointense to muscle tissue on T1 images
  • Hyperintense on T2 images
Fibroma
  • Children (1/3rd in infants)
  • Solitary
  • Solitary mass
  • Low intensity on T2 weighted image
Fibroelastoma
  • < 1 cm in diameter
  • Solitary
  • Papillary
  • Flower-like appearance with multiple attachments to valve
  • Short pedicle
  • T1 and T2 weighted images show uniform intermediate signal intensity similar to myocardium
  • Homogeneous late gadolinium contrast enhancement
Hemangioma
  • < 1 year to 70 years
  • < 2Β % of primary cardiac tumors
  • Polypoid
  • Encapsulated
  • Intermediate density on T1 images
  • Hypointense on T2 images
  • Multicystic enhancing lesion
  • Involvement of epicardium or pericardium
Lipoma
  • Between fourth to sixth decade of life
  • Epicardial or intramural lesion
  • High intensity on T1 weighted image
  • Drop out on fat saturation images
Paraganglioma
  • Average age of presentation is 11-13 years
    • 3-8 cm
    • Well-defined
    • Broad base
    • Encapsulated
    • Heterogeneous
    • Hypervascular
    Atrioventricular Node Tumor
    • Average age of diagnosis is 38 years
    • Female to male ratio 3:1
    • Hypointense cardiac mass on standard imaging
    • Hyperintensity on late gadolinium enhancement (LGE) images with heterogeneous contrast enhancement
    Lipomatous hypertrophy of the interatrial septum
    • > 60 years
    		 –
    Primary Malignant Fibrosarcoma
    • 20 to 80 years
    • Sessile or pedunculated protruding masses in ventricular cavities
    • Soft
    • Lobulated
    • Gelatinous
    • Heterogenous or isointense to myocardium on T1 weighted images
    Angiosarcoma
    • 30 to 50 years
    • Arterial phase enhancement
    Rhabdomyosarcoma
    • Most common primary sarcoma of children
    • Average age of presentation is 20 years
    • Multiple
    • Three types:
      • Embryonic
      • Pleomorphic
      • Alveolar
    • Intermediate-to-hypointensity compared with muscle on T1 images
    • Hyperintense on T2-weighted imaging with heterogeneous contrast enhancement
    Lymphoma
    • 10 to 90 years
    • Males > females
    • Right sided mostly
    • Majority solitary (1/3rd multiple)
    • Hypointense on T1-weighted images and hyperintense on T2-weighted images
    Secondary Cardiac Tumor Metastastatic Malignant Metastasis
    • Any age
    • Multiple
      References

      References

      1. ↑ Brown K, Mund DF, Aberle DR, Batra P, Young DA (1994). “Intrathoracic calcifications: radiographic features and differential diagnoses”. Radiographics. 14 (6): 1247–61. doi:10.1148/radiographics.14.6.7855339. PMIDΒ 7855339.
      2. ↑ 2.0 2.1 2.2 Hypothalamic hamartoma. Dr Donna D’Souza et al.http://radiopaedia.org/articles/hypothalamic-hamartoma Radiopedia Accessed on December 08, 2015
      3. ↑ Amstutz DR, Coons SW, Kerrigan JF, Rekate HL, Heiserman JE (2006). “Hypothalamic hamartomas: Correlation of MR imaging and spectroscopic findings with tumor glial content”. AJNR Am J Neuroradiol. 27 (4): 794–8. PMIDΒ 16611766.
      4. ↑ Xu Q, Yin X, Huang W, Sun J, Wu X, Lu L (2015). “Intrapulmonary myelolipoma and its computed tomography features: A case report and literature review”. Oncol Lett. 9 (4): 1677–1680. doi:10.3892/ol.2015.2913. PMCΒ 4356384. PMIDΒ 25789022.
      5. ↑ Carneys triad.https://en.wikipedia.org/wiki/Carney’s_triad Accessed on December 08, 2015
      6. ↑ Secondary cardiac neoplasm. Radiopedia.http://radiopaedia.org/articles/secondary-cardiac-neoplasms Accessed on November 24, 2015
      7. ↑ Splenic hemangioma. Dr Jan Frank Gerstenmaier and Dr Yuranga Weerakkody et al http://radiopaedia.org/articles/splenic-haemangioma Accessed on December 08, 2015
      8. ↑ Mankad R, Herrmann J (December 2016). “Cardiac tumors: echo assessment”. Echo Res Pract. 3 (4): R65–R77. doi:10.1530/ERP-16-0035. PMCΒ 5292983. PMIDΒ 27600455.
      9. ↑ Zaragoza-Macias E, Zaragosa-Macias E, Chen MA, Gill EA (February 2012). “Real time three-dimensional echocardiography evaluation of intracardiac masses”. Echocardiography. 29 (2): 207–19. doi:10.1111/j.1540-8175.2011.01627.x. PMIDΒ 22283202.
      10. ↑ Larrieu AJ, Jamieson WR, Tyers GF, Burr LH, Munro AI, Miyagishima RT, Gerein AN, Allen P (March 1982). “Primary cardiac tumors: experience with 25 cases”. J. Thorac. Cardiovasc. Surg. 83 (3): 339–48. PMIDΒ 7062746.
      11. ↑ Molina JE, Edwards JE, Ward HB (August 1990). “Primary cardiac tumors: experience at the University of Minnesota”. Thorac Cardiovasc Surg. 38 Suppl 2: 183–91. doi:10.1055/s-2007-1014064. PMIDΒ 2237900.
      12. ↑ Tazelaar HD, Locke TJ, McGregor CG (October 1992). “Pathology of surgically excised primary cardiac tumors”. Mayo Clin. Proc. 67 (10): 957–65. PMIDΒ 1434856.
      13. ↑ Sarjeant JM, Butany J, Cusimano RJ (2003). “Cancer of the heart: epidemiology and management of primary tumors and metastases”. Am J Cardiovasc Drugs. 3 (6): 407–21. doi:10.2165/00129784-200303060-00004. PMIDΒ 14728061.
      14. ↑ St John Sutton MG, Mercier LA, Giuliani ER, Lie JT (June 1980). “Atrial myxomas: a review of clinical experience in 40 patients”. Mayo Clin. Proc. 55 (6): 371–6. PMIDΒ 7382545.
      15. ↑ Pinede L, Duhaut P, Loire R (May 2001). “Clinical presentation of left atrial cardiac myxoma. A series of 112 consecutive cases”. Medicine (Baltimore). 80 (3): 159–72. PMIDΒ 11388092.
      16. ↑ Reynen K (December 1995). “Cardiac myxomas”. N. Engl. J. Med. 333 (24): 1610–7. doi:10.1056/NEJM199512143332407. PMIDΒ 7477198.
      17. ↑ Javed A, Zalawadiya S, Kovach J, Afonso L (March 2014). “Aortic valve myxoma at the extreme age: a review of literature”. BMJ Case Rep. 2014. doi:10.1136/bcr-2013-202689. PMCΒ 3962858. PMIDΒ 24642215.
      18. ↑ Lee VH, Connolly HM, Brown RD (August 2007). “Central nervous system manifestations of cardiac myxoma”. Arch. Neurol. 64 (8): 1115–20. doi:10.1001/archneur.64.8.1115. PMIDΒ 17698701.
      19. ↑ Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL (July 1985). “The complex of myxomas, spotty pigmentation, and endocrine overactivity”. Medicine (Baltimore). 64 (4): 270–83. PMIDΒ 4010501.
      20. ↑ McAllister HA, Hall RJ, Cooley DA (February 1999). “Tumors of the heart and pericardium”. Curr Probl Cardiol. 24 (2): 57–116. PMIDΒ 10028128.
      21. ↑ Klarich KW, Enriquez-Sarano M, Gura GM, Edwards WD, Tajik AJ, Seward JB (September 1997). “Papillary fibroelastoma: echocardiographic characteristics for diagnosis and pathologic correlation”. J. Am. Coll. Cardiol. 30 (3): 784–90. PMIDΒ 9283541.
      22. ↑ Tamin SS, Maleszewski JJ, Scott CG, Khan SK, Edwards WD, Bruce CJ, Oh JK, Pellikka PA, Klarich KW (June 2015). “Prognostic and Bioepidemiologic Implications of Papillary Fibroelastomas”. J. Am. Coll. Cardiol. 65 (22): 2420–9. doi:10.1016/j.jacc.2015.03.569. PMIDΒ 26046736.
      23. ↑ Gowda RM, Khan IA, Nair CK, Mehta NJ, Vasavada BC, Sacchi TJ (September 2003). “Cardiac papillary fibroelastoma: a comprehensive analysis of 725 cases”. Am. Heart J. 146 (3): 404–10. doi:10.1016/S0002-8703(03)00249-7. PMIDΒ 12947356.
      24. ↑ Beghetti M, Gow RM, Haney I, Mawson J, Williams WG, Freedom RM (December 1997). “Pediatric primary benign cardiac tumors: a 15-year review”. Am. Heart J. 134 (6): 1107–14. PMIDΒ 9424072.
      25. ↑ Smythe JF, Dyck JD, Smallhorn JF, Freedom RM (November 1990). “Natural history of cardiac rhabdomyoma in infancy and childhood”. Am. J. Cardiol. 66 (17): 1247–9. PMIDΒ 2239731.
      26. ↑ Jacobs JP, Konstantakos AK, Holland FW, Herskowitz K, Ferrer PL, Perryman RA (November 1994). “Surgical treatment for cardiac rhabdomyomas in children”. Ann. Thorac. Surg. 58 (5): 1552–5. PMIDΒ 7979700.
      27. ↑ Elbardissi AW, Dearani JA, Daly RC, Mullany CJ, Orszulak TA, Puga FJ, Schaff HV (September 2008). “Survival after resection of primary cardiac tumors: a 48-year experience”. Circulation. 118 (14 Suppl): S7–15. doi:10.1161/CIRCULATIONAHA.107.783126. PMIDΒ 18824772.
      28. ↑ Basu S, Folliguet T, Anselmo M, Greengart A, Sabado M, Cunningham JN, Jacobowitz IJ (April 1994). “Lipomatous hypertrophy of the interatrial septum”. Cardiovasc Surg. 2 (2): 229–31. PMIDΒ 8049952.
      29. ↑ Simpson L, Kumar SK, Okuno SH, Schaff HV, Porrata LF, Buckner JC, Moynihan TJ (June 2008). “Malignant primary cardiac tumors: review of a single institution experience”. Cancer. 112 (11): 2440–6. doi:10.1002/cncr.23459. PMIDΒ 18428209.
      30. ↑ Vander Salm TJ (April 2000). “Unusual primary tumors of the heart”. Semin. Thorac. Cardiovasc. Surg. 12 (2): 89–100. PMIDΒ 10807431.
      31. ↑ Petersen CD, Robinson WA, Kurnick JE (1976). “Involvement of the heart and pericardium in the malignant lymphomas”. Am. J. Med. Sci. 272 (2): 161–5. PMIDΒ 1008078.
      32. ↑ Ragland MM, Tak T (March 2006). “The role of echocardiography in diagnosing space-occupying lesions of the heart”. Clin Med Res. 4 (1): 22–32. PMCΒ 1447535. PMIDΒ 16595790.
      33. ↑ Miguel CE, Bestetti RB (June 2011). “Primary cardiac lymphoma”. Int. J. Cardiol. 149 (3): 358–63. doi:10.1016/j.ijcard.2010.02.016. PMIDΒ 20227122.
      34. ↑ Grebenc ML, Rosado de Christenson ML, Burke AP, Green CE, Galvin JR (2000). “Primary cardiac and pericardial neoplasms: radiologic-pathologic correlation”. Radiographics. 20 (4): 1073–103, quiz 1110–1, 1112. doi:10.1148/radiographics.20.4.g00jl081073. PMIDΒ 10903697.
      35. ↑ Grinda JM, Couetil JP, Chauvaud S, D’Attellis N, Berrebi A, Fabiani JN, Deloche A, Carpentier A (January 1999). “Cardiac valve papillary fibroelastoma: surgical excision for revealed or potential embolization”. J. Thorac. Cardiovasc. Surg. 117 (1): 106–10. PMIDΒ 9869763.
      36. ↑ Webb DW, Thomas RD, Osborne JP (March 1993). “Cardiac rhabdomyomas and their association with tuberous sclerosis”. Arch. Dis. Child. 68 (3): 367–70. PMCΒ 1793857. PMIDΒ 8466239.
      37. ↑ Yoshitake I, Hata M, Sezai A, Niino T, Unosawa S, Shimura K, Kasamaki Y, Minami K (September 2009). “Cardiac angiosarcoma with cardiac tamponade diagnosed as a ruptured aneurysm of the sinus valsalva”. Jpn. J. Clin. Oncol. 39 (9): 612–5. doi:10.1093/jjco/hyp044. PMIDΒ 19493870.
      38. ↑ Parissis H, Akbar MT, Young V (October 2010). “Primary leiomyosarcoma of the right atrium: a case report and literature update”. J Cardiothorac Surg. 5: 80. doi:10.1186/1749-8090-5-80. PMCΒ 2964688. PMIDΒ 20939891.
      39. ↑ Gulati G, Sharma S, Kothari SS, Juneja R, Saxena A, Talwar KK (2004). “Comparison of echo and MRI in the imaging evaluation of intracardiac masses”. Cardiovasc Intervent Radiol. 27 (5): 459–69. doi:10.1007/s00270-004-0123-4. PMIDΒ 15383848.
      40. ↑ Narin B, Arman A, Arslan D, Simşek M, Narin A (February 2010). “Assessment of cardiac masses: magnetic resonance imaging versus transthoracic echocardiography”. Anadolu Kardiyol Derg. 10 (1): 69–74. PMIDΒ 20150010.
      41. ↑ “academic.oup.com”.
      42. ↑ Ismail I, Al-Khafaji K, Mutyala M, Aggarwal S, Cotter W, Hakim H, Khosla S, Arora R (2015). “Cardiac lipoma”. J Community Hosp Intern Med Perspect. 5 (5): 28449. doi:10.3402/jchimp.v5.28449. PMCΒ 4612478. PMIDΒ 26486106.
      43. ↑ D’Souza J, Shah R, Abbass A, Burt JR, Goud A, Dahagam C (January 2017). “Invasive Cardiac Lipoma: a case report and review of literature”. BMC Cardiovasc Disord. 17 (1): 28. doi:10.1186/s12872-016-0465-2. PMCΒ 5237479. PMIDΒ 28088193.
      44. ↑ Yadav, Pradeep K.; Baquero, Giselle A.; Malysz, Jozef; Kelleman, John; Gilchrist, Ian C. (2014). “Cardiac Paraganglioma”. Circulation: Cardiovascular Interventions. 7 (6): 851–856. doi:10.1161/CIRCINTERVENTIONS.114.001856. ISSNΒ 1941-7640.
      45. ↑ Tahir M, Noor SJ, Herle A, Downing S (2009). “Right atrial paraganglioma: a rare primary cardiac neoplasm as a cause of chest pain”. Tex Heart Inst J. 36 (6): 594–7. PMCΒ 2801953. PMIDΒ 20069088.
      46. ↑ Hamilton BH, Francis IR, Gross BH, Korobkin M, Shapiro B, Shulkin BL, Deeb CM, Orringer MB (January 1997). “Intrapericardial paragangliomas (pheochromocytomas): imaging features”. AJR Am J Roentgenol. 168 (1): 109–13. doi:10.2214/ajr.168.1.8976931. PMIDΒ 8976931.
      47. ↑ Shih, Wei-Jen; McCullough, Scott; Smith, Mary (1993). “Diagnostic imagings for primary cardiac fibrosarcoma”. International Journal of Cardiology. 39 (2): 157–161. doi:10.1016/0167-5273(93)90028-F. ISSNΒ 0167-5273.
      48. ↑ Arai T, Kurashima C, Wada S, Chida K, Ohkawa S (November 1998). “Histological evidence for cell proliferation activity in cystic tumor (endodermal heterotopia) of the atrioventricular node”. Pathol. Int. 48 (11): 917–23. PMIDΒ 9832064.
      49. ↑ Wolf PL, Bing R (November 1965). “The smallest tumor which causes sudden death”. JAMA. 194 (6): 674–5. PMIDΒ 5897246.
      50. ↑ Burke AP, Anderson PG, Virmani R, James TN, Herrera GA, Ceballos R (October 1990). “Tumor of the atrioventricular nodal region. A clinical and immunohistochemical study”. Arch. Pathol. Lab. Med. 114 (10): 1057–62. PMIDΒ 2222148.
      51. ↑ Burke A, Tavora F (April 2016). “The 2015 WHO Classification of Tumors of the Heart and Pericardium”. J Thorac Oncol. 11 (4): 441–52. doi:10.1016/j.jtho.2015.11.009. PMIDΒ 26725181.
      52. ↑ Tran, Thao T; Starnes, Vaughn; Wang, Xuedong; Getzen, James; Ross, Brian D (2009). “Cardiovascular magnetics resonance diagnosis of cystic tumor of the atrioventricular node”. Journal of Cardiovascular Magnetic Resonance. 11 (1): 13. doi:10.1186/1532-429X-11-13. ISSNΒ 1532-429X.
      53. ↑ Tatli, Servet; O’Gara, Patrick Thomas; Lambert, Jarvis; Kwong, Raymond; Byrne, John Gerald; Yucel, E. Kent (2004). “MRI of Atypical Lipomatous Hypertrophy of the Interatrial Septum”. American Journal of Roentgenology. 182 (3): 598–600. doi:10.2214/ajr.182.3.1820598. ISSNΒ 0361-803X.
      54. ↑ Saboo, Sachin S.; Krajewski, Katherine M.; Zukotynski, Katherine; Howard, Stephanie; Jagannathan, Jyothi P.; Hornick, Jason L.; Ramaiya, Nikhil (2012). “Imaging Features of Primary and Secondary Adult Rhabdomyosarcoma”. American Journal of Roentgenology. 199 (6): W694–W703. doi:10.2214/AJR.11.8213. ISSNΒ 0361-803X.


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