Carney complex

Carney complex
Carney complex
Classification and external resources

Micrograph showing an atrial myxoma, a tumour seen in the Carney complex. H&E stain.
OMIM 160980 605244
eMedicine med/2941

Carney complex, also known as LAMB syndrome[1] and NAME syndrome[1] is an autosomal dominant condition comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and endocrine overactivity[2][3] It is distinct from Carney's triad. Approximately 7% of all cardiac myxomas are associated with Carney complex.[4]

Contents

Pathophysiology

Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q23-q24,[5] which may function as a tumor-suppressor gene. The encoded protein is a type 1A regulatory subunit of protein kinase A. Inactivating germline mutations of this gene are found in 70% of people with Carney complex.

Less commonly, the molecular pathogenesis of Carney complex is a variety of genetic changes at chromosome 2p16.[6][7]

Both types of Carney complex are autosomal dominant. Despite dissimilar genetics, there appears to be no phenotypic difference between PRKAR1A and chromosome 2p16 mutations.[6]

Clinical Features

The spotty skin pigmentation and lentigines occur most commonly on the face, especially on the lips, eyelids, conjunctiva, and oral mucosa.[3] Cardiac myxomas may lead to embolic strokes and heart failure[4] and may present with fever, joint pain, shortness of breath, diastolic rumble, and tumor plop. Myxomas may also occur outside the heart, usually in the skin and breast. Endocrine tumors may manifest as disorders such as Cushing syndrome. The most common endocrine gland manifestation is an ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD).

The LAMB acronym refers to lentigines, atrial myxomas, and blue nevi.[1] NAME refers to nevi, atrial myxoma, myxoid neurofibromas, and ephelides.[1]

Although J. Aiden Carney also described Carney's triad it is entirely different.[8]

Treatment

Cardiac myxomas can be difficult to manage surgically because of recurrence within the heart, often far away from the site of the initial tumor.[3][4]

See also

  • Epithelioid blue nevus

External links

References

  1. ^ a b c d Carney Syndrome at eMedicine
  2. ^ Carney, J.; Gordon, H.; Carpenter, P.; Shenoy, B.; Go, V. (1985). "The complex of myxomas, spotty pigmentation, and endocrine overactivity". Medicine 64 (4): 270–283. PMID 4010501.  edit
  3. ^ a b c McCarthy, P.; Piehler, J.; Schaff, H.; Pluth, J.; Orszulak, T.; Vidaillet Jr, H.; Carney, J. (1986). "The significance of multiple, recurrent, and "complex" cardiac myxomas". The Journal of thoracic and cardiovascular surgery 91 (3): 389–396. PMID 3951243.  edit
  4. ^ a b c Reynen, K. (1995). "Cardiac Myxomas". New England Journal of Medicine 333 (24): 1610–1617. doi:10.1056/NEJM199512143332407. PMID 7477198.  edit
  5. ^ Online 'Mendelian Inheritance in Man' (OMIM) Carney Complex, type 1; CNC1 -160980
  6. ^ a b Stratakis, C. A.; Kirschner, L. S.; Carney, J. A. (2001). "Clinical and Molecular Features of the Carney Complex: Diagnostic Criteria and Recommendations for Patient Evaluation". Journal of Clinical Endocrinology & Metabolism 86 (9): 4041–4046. doi:10.1210/jc.86.9.4041.  edit
  7. ^ Online 'Mendelian Inheritance in Man' (OMIM) Carney Complex, type 2; CNC2 -605244
  8. ^ Gaissmaier C (December 1999). "Carney complex" (letter and response). Circulation 100 (25): e150. PMID 10604916. http://circ.ahajournals.org/cgi/reprint/100/25/e150. 
v · d · eDeficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
Marinesco–Sjögren syndrome · Aarskog–Scott syndrome · Juvenile primary lateral sclerosis · X-Linked mental retardation 1
G protein
MAP kinase
Other kinase/phosphatase
RPS6KA3 (Coffin-Lowry syndrome) · CHEK2 (Li-Fraumeni syndrome 2) · IKBKG (Incontinentia pigmenti) · STK11 (Peutz–Jeghers syndrome) · DMPK (Myotonic dystrophy 1) · ATR (Seckel syndrome 1) · GRK1 (Oguchi disease 2) · WNK4/WNK1 (Pseudohypoaldosteronism 2)
PTEN (Bannayan–Riley–Ruvalcaba syndrome, Lhermitte–Duclos disease, Cowden syndrome, Proteus-like syndrome) · MTM1 (X-linked myotubular myopathy) · PTPN11 (Noonan syndrome 1, LEOPARD syndrome, Metachondromatosis)
Signal transducing adaptor proteins
Other
NF2 (Neurofibromatosis type II) · NOTCH3 (CADASIL) · PRKAR1A (Carney complex) · PRKAG2 (Wolff–Parkinson–White syndrome) · PRKCSH (PRKCSH Polycystic liver disease) · XIAP (XIAP2)
see also intracellular signaling peptides and proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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