Carney complex
Carney complex describes a syndrome that was first described in 1985 by the US pathologist J. Aiden Carney as a “ complex of myxomas, skin spots and hormonal hyperfunction ”. It is also known as " familial myxoma syndrome " or as Carney syndrome .
The appearance of myxomas is characteristic not only in the heart, but also in the skin, breast, nerve tissue and thyroid gland. About 7% of all myxomas occur in the context of the Carney complex. Lentigines (pigment spots), myxomas (in about 72% of patients on the heart ), hormonal hyperfunction, malignant neoplasms and schwannomas characterize the disease, which is related to the multiple endocrine neoplasms MEN.
The Carney complex must be distinguished from the also hereditary Carney-Stratakis syndrome , consisting of paragangliomas and gastrointestinal stromal tumors, and the non-hereditary Carney triad , which is the common occurrence of gastric GIST , pulmonary chondroma and paraganglioma .
Occurrence
The frequency of the syndrome is unknown, but it has been observed across races and ethnic groups.
Symptoms
Myxomas of the heart
Myxomas are the most common primary cardiac tumors in adults. They are found in up to 17 in 10,000 autopsies. Myxomas are benign tumors, which means that they do not infiltrate neighboring tissue and do not metastasize. Still, they lead to serious complications. Typical of myxomas is a triad of heart failure, embolisms and symptoms similar to rheumatism. The heart failure is expressed by shortness of breath and edema and is due to the obstruction of the blood flow in the heart by the tumor. A diastolic heart murmur or " tumor plop " may be noticed during the physical examination of the patient. The embolisms come to the fore due to the failure of the affected organs: stroke with embolism in the brain, shortness of breath with pulmonary embolism and myocardial infarction with embolism in the coronary arteries. The unspecific symptoms of inflammation such as fever, joint pain and poor performance are attributed to the release of interleukin-6. About 5–10% of all cardiac myxomas are observed in the context of the Carney complex. They are then more frequently found in different heart cavities at the same time and carry a higher risk of recurrence even after their surgical removal.
skin
Various skin conditions occur with the Carney complex. A noticeable blotchy skin or mucous membrane is often an indication. Moles or lentigines are common, as bluish birthmarks. If more than one skin myxoma is found, the Carney complex should always be considered. Skin myxomas are usually normal, asymptomatic swellings.
Hormonal changes
In 20%, between the ages of 4 and 19, Cushing's syndrome occurs due to nodular adrenal dysplasia , and in 50% a growth hormone- producing tumor of the pituitary gland , which leads to giant growth in children and acromegaly in adults . Thyroid changes are also described.
Lumps
Sertoli cell tumors are often found in men . If sexually precocious, a Leydig cell tumor should be considered. Characteristic is a sub-form of nerve sheath tumors ( schwannomas ) which are referred to as psammomatous melanotic schwannomas and have a malignant course. Women are more likely to have benign breast tumors and ovarian cysts. The aggressiveness of the neoplasms developed in each case ultimately determines the prognosis of the patient with a Carney complex.
Making the diagnosis
A catalog of twelve clinical and two genetic criteria has been suggested to aid in the diagnosis. Thorough examination of relatives of patients with the Carney complex is recommended . The diagnosis can be made if at least one characteristic clinical symptom occurs together with a familial occurrence of the disease, or if two characteristic clinical symptoms occur in the absence of familial involvement .
genetics
The inheritance is autosomal dominant , with incomplete penetrance and phenotypic variability rarely occurring even in the same family. Two defective gene loci have already been identified: chromosome 2p16 and chromosome 17q22-24 ; in the latter there is a defect for a tumor suppressor gene which codes for the regulatory subunit 1-α of the cAMP -dependent protein kinase A ( PRKAR1a ).
Molecular genetic diagnostics
PCR and DNA sequencing .
Individual evidence
- ^ Who named it Carney
- ↑ JA Carney, H. Gordon, PC Carpenter et al. a .: The complex of myxomas, spotty pigmentation, and endocrine overactivity. In: Medicine (Baltimore). 1985, 64, pp. 270-283.
- ↑ HJ Vidaillet Jr, JB Seward, FE Fyke et al. a.:. "Syndrome myxoma": A subset of patients with cardiac myxoma associated with pigmented skin lesions and peripheral and endocrine neoplasms. In: British Heart Journal 1987; 57, p. 247.
- ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ J. Bertherat: Carney complex (CNC). In: Orphanet J Rare Dis. 2006 Jun; 6; 1, p. 21. PMID 16756677 , PMC 1513551 (free full text)
- ↑ D. Wilkes, DA McDermott, CT Basson: Clinical phenotypes and molecular genetic mechanisms of Carney complex . In: Lancet Oncol. tape 6 , no. 7 , July 2005, p. 501-508 , doi : 10.1016 / S1470-2045 (05) 70244-8 , PMID 15992699 .
- ↑ CA Stratakis, LS Kirschner, JA Carney: Clinical and molecular features of the Carney complex: Diagnostic criteria and recommendations for patient evaluation. In: J Clin Endocrinol Metab . 2001; 86, pp. 4041-4046.
- ↑ D. Wilkes, DA McDermott, TB Basson: Clinical phenotypes and molecular genetic mechanisms of Carney complex. Review. In: Lancet Oncol. 2005; 6, pp. 501-508.
- ^ DP Zipes, P. Libby, RO Bonow, E. Braunwald: Braunwald's Heart Disease, A Textbook of Cardiovascular Medicine. Elsevier Saunders, Philadelphia 2005, ISBN 0-8089-2305-6 .
