Ann Thorac Surg 2006;82:320-322
© 2006 The Society of Thoracic Surgeons
Case report
Carney Complex
Rayhaneh G. Zahedi, BS
*
,
David S. Wald, MRCP, MD,
Sunil Ohri, MD
Southampton University Hospital, Southampton, Hampshire, United Kingdom
Accepted for publication July 11, 2005.
* Address correspondence to Dr Wald, Cardiology, Southampton University Hospital, Tremona Rd, Southampton, Hampshire SO166YD United Kingdom (Email: davidwald{at}hotmail.com).
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Abstract
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We report an illustrated case of a 61-year-old woman with multiple atrial myxomas and cutaneous hyperpigmentation as part of the Carney complex. The case is notable for an unusually late presentation in life and a strong family history of atrial myxomas and sudden death. The importance of regular life-long echocardiographic screening and surveillance in all family members of affected cases is emphasized.
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Introduction
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The association between hyperpigmented skin lesions and atrial myxomas has been previously reported and is known as the Carney complex. It is a rare disease, affecting approximately 1 in 15,000 of the population [1]. The disorder has an autosomal dominant pattern of inheritance, such that half of all first-degree relatives of diagnosed cases will be affected. Carney complex and family screening should be considered in patients presenting with atrial myxoma.
A 61-year-old asymptomatic white woman with a strong family history of sudden cardiac death and atrial myxoma was admitted to hospital after a screening transthoracic echocardiogram revealed a mass in her left atrium. A transesophageal echocardiogram was performed showing multiple masses extending along the inter-atrial surface of the left atrium into the left lower pulmonary vein (Fig 1). A transthoracic echocardiogram undertaken 1 year previously had been normal.
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Fig 1. Transesophageal echocardiogram showing two multi-lobulated atrial myxomas (arrows) attached to the left atrial surface of the intra-atrial septum. (LA = left atrium; RA = right atrium.)
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For the past 10 years, seven myxoid mammary fibroadenomas had been removed from her breasts, and in the past year a pigmented nevus was removed from her lower right eyelid. Clinical examination was normal apart from several hyperpigmented cutaneous lesions (ie, lentigines and blue nevi) on her face, left lower lip, upper trunk, and lateral side of her right foot and arm. The atrial tumors were surgically removed (Fig 2), and the diagnosis of multiple atrial myxomas was confirmed histologically.
Review of the patient's family history revealed that her mother had suddenly died at the age of 28 of an unknown cause. The patient had 5 children, one of whom had died suddenly at the age of 21 from an atrial myxoma. Of her 4 remaining children, 2 (aged 14 and 16) had undergone atrial myxoma removals that were identified by screening echocardiography, and 2 (aged 35 and 37) were unaffected by atrial myxoma, although 1 with a proven mutation exhibited extensive hyperpigmented cutaneous lesions (lentiginosis, ephelides, and blue nevi).
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Comment
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J. Aidan Carney and colleagues [1] described patients with cardiac myxomas, spotty skin pigmentation, and endocrine overactivity in 1985. Acronyms previously proposed for patients with components of this condition include the NAME syndrome, which stands for nevi, atrial myxoma, myxoid neurofibromata, and ephelides syndrome [2], and the LAMB syndrome, which stands for lentigines, atrial myxoma, mucocutaneous myxomas, blue nevi syndrome [3]. The complex has since been expanded to include other associated tumors listed in Table 1
[4].
The Carney complex can occur spontaneously or it can be inherited in an autosomal dominant pattern with variable penetrance [5]. A mutation in a tumor suppressor gene coding for the R1-alpha regulatory subunit of cyclic adenosine monophosphate-dependent protein kinase A (also known as PRKAR1
) is present in approximately half of the known Carney complex kindreds, and this has been linked to the 17q22-24 locus [6]. A second locus is at chromosome 2p16, to which most of the remaining known kindreds map [7]. DNA analysis in our patient confirms the presence of the protein kinase A R1-alpha regulatory subunit gene mutation, which has also been demonstrated in 4 of 5 of our patient's children and 2 of her grandchildren (Fig 3).
Cardiac myxomas in the Carney complex are typically benign, develop in the second to third decade of life, and are not believed to be more prone to complication by embolization, obstruction, or sudden death than other atrial myxomas [8]. Therefore, this case is unusual. Our patient's family history is notable for a strong association with sudden death emphasizing the importance of early identification of myxomas and surgical removal. Her atrial myxoma, which had developed in the sixth decade, had grown rapidly, which is also unusual, emphasizing the importance of yearly echocardiographic examinations of all family members of an affected case throughout life.
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References
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- Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VLW. The complex of myxomas, spotty pigmentation, and endocrine overactivity Medicine (Baltimore) 1985;64:270-283.[Medline]
- Atherton DJ, Pitcher DW, Wells RS, MacDonald DM. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxomathe NAME syndrome. Br J Dermatol 1980;103:421-429.[Medline]
- 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.[Medline]
- Amir O, Merdler A, Shiran A. Bilateral atrial myxomas associated with hyperpigmented skin lesions N Engl J Med 2001;344:938-939.[Free Full Text]
- Goldstein MM, Casey M, Carney JA. Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex) Am J Med Genet 1999;86:62-65.[Medline]
- Casey M, Vaughan CJ, He J. Mutations in protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex J Clin Invest 2000;106:R31-R38.
- Stratakis CA, Carney JA, Lin JP. Carney complex, a familial multiple noeplasia and lentiginsis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2 J Clin Invest 1996;97:699-705.[Medline]
- Yen RS, Allen B, Ott R, Brodsky M. The syndrome of right atrial myxoma, spotty skin pigmentation, and acromegaly Am Heart J 1992;123:243-244.[Medline]
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Abstract
Introduction
= male; 
= female; black symbols = affected individuals with the mutated gene who had myxomas develop; grey symbols = affected individuals who have not had myxomas develop; white symbols = unaffected family members; slashed symbols = deceased; numbers = subject's age; arrow = our subject.)