Genetic testing of the family with a Carney-complex member leads to successful early removal of an asymptomatic atrial myxoma in the mother of the patient

Australasian Journal of Dermatology

Volumn 44, Issue 2, 2003, Pages 121-122

  Aspres, Nicholas ^a,d   Bleasel, Narelle R ^c   Stapleton, Karen M ^b  

^a LIVERPOOL HOSPITAL   (Australia)

^b WESTMEAD HOSPITAL   (Australia)

^c ROYAL HOBART HOSPITAL   (Australia)

^d SKIN AND CANCER FOUNDATION AUSTRALIA   (Australia)

Author keywords

Cardiac myxoma; PRKAR1 gene mutation

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLUE NEVUS; CARNEY COMPLEX; CASE REPORT; CEREBROVASCULAR ACCIDENT; CLINICAL FEATURE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEART ATRIUM MYXOMA; HEART INFARCTION; HUMAN; LENTIGINOSIS; MALE; RISK FACTOR;

ABNORMALITIES, MULTIPLE; ADULT; CARDIAC SURGICAL PROCEDURES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HEART NEOPLASMS; HUMANS; MALE; MITOGEN-ACTIVATED PROTEIN KINASE 1; MYXOMA; NEVUS, BLUE; PEDIGREE; PROGNOSIS; RISK ASSESSMENT; SYNDROME; TIME FACTORS; TREATMENT OUTCOME;

EID: 0038017149     PISSN: 00048380     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-0960.2003.00657.x     Document Type: Article

References (12)

1. Abdelmalek NF, Gerber TL, Menter A. Cardiocutaneous syndromes and associations. J. Am. Acad. Dermatol. 2002; 46: 161-83.
2. Atherton DJ, Pitcher DW, Wells RS, MacDonald DM. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: The NAME syndrome. Br. J. Dermatol. 1980; 103: 421-9.
3. Rhodes AR, Silverman RA, Harrist TJ, Perez-Atayde AR. Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: The 'LAMB' syndrome. J. Am. Acad. Dermatol. 1984; 10: 72-82.
4. Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat. Genet. 2000; 26: 89-92.
5. Bieasel NR, Stapleton KM. Carney complex: In a patient with multiple blue naevi and lentigines, suspect cardiac myxoma. Australas. J. Dermatol. 1999; 40: 158-60.
6. Stratakis CA, Carney JA, Lin JP, Papanicolaou DA, Karl M, Kastner DL, Pras E, Chrousos GP. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J. Clin. Invest. 1996; 97: 699-705.
7. Casey M, Mah C, Merliss AD, Kirschner LS, Taymans SE, Denio AE et al. Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation 1998; 98: 2560-6.
8. Casey M, Vaughan CJ, He J, Hatcher CJ, Winter JM, Weremowicz S, Montgomery K, Kucherlapati R, Morton CC, Basson CT. Mutations in the protein kinase A Rlalpha regulatory subunit cause familial cardiac myxomas and Carney complex. J. Clin. Invest. 2000; 106: R31-8.
9. Reynen K. Cardiac myxomas. N. Engl. J. Med. 1995; 333: 1610-17.
10. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 1985; 64: 270-83.
11. Carney JA. Carney complex: The complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. Semin. Dermatol. 1995; 14: 90-8.
12. Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: Diagnostic criteria and recommendations for patient evaluation. J. Clin. Endocrinol. Metab. 2001; 86: 4041-6.