Cardiac Myxomas

Reynen, K

doi:10.1056/nejm199512143332407

Cited by 1,165 publications

(1,201 citation statements)

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“…I n the autosomal dominant multiple neoplasia syndrome Carney complex (CNC, Online Mendelian Inheritance in Man 160980), recurrent heart, skin, and͞or visceral myxomas are associated with spotty skin pigmentation, adrenal gland dysplasia, and schwannomas and pituitary, Sertoli, bone, ovarian, and breast tumors (1)(2)(3)(4)(5)(6). Mutations in the chromosome 17q24 PRKAR1A gene encoding the R1␣ regulatory subunit of cAMP-dependent protein kinase A (PKA) cause CNC in some kindreds (7,8).…”

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confidence: 99%

Comparative PRKAR1A genotype–phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice

Veugelers

Wilkes

Burton

et al. 2004

Proc. Natl. Acad. Sci. U.S.A.

144

122

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Carney complex (CNC) is a familial multiple neoplasia syndrome characterized by cardiac and extracardiac myxomas in the setting of spotty skin pigmentation and endocrinopathy. We previously identified PRKAR1A (regulatory subunit 1α of protein kinase A) mutations in CNC. Mutational analyses of the PRKAR1A gene in 51 unrelated CNC probands now detect mutations in 65%. All mutations, except for one unique missense mutation, lead to PRKAR1A haploinsufficiency. Therefore, we studied the consequences of prkar1a haploinsufficiency in mice. Although we did not observe cardiac myxomas or altered pigmentation in prkar1a +/– mice, we did observe some phenotypes similar to CNC, including altered heart rate variability. Moreover, prkar1a +/– mice exhibited a marked propensity for extracardiac tumorigenesis. They developed sarcomas and hepatocellular carcinomas. Sarcomas were frequently associated with myxomatous differentiation. Tumors from prkar1a +/– mice did not exhibit prkar1a loss of heterozygosity. Thus, we conclude that although PRKAR1A haploinsufficiency does predispose to tumorigenesis, distinct secondary genetic events are required for tumor formation.

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confidence: 99%

Comparative PRKAR1A genotype–phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice

Veugelers

Wilkes

Burton

et al. 2004

Proc. Natl. Acad. Sci. U.S.A.

144

122

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“…6,16 Therefore, the true prevalence of cardiac tumors is unknown. Although primary cardiac tumors are rare, 1 secondary or metastatic tumors are not.…”

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confidence: 99%

“…[3][4][5] The majority of cardiac tumors are silent and found incidentally, either on imaging or during autopsy. 6 Only 10% of patients with cardiac metastases develop symptoms. 7 Clinical features vary depending on tumor location and burden.…”

Section: Introductionmentioning

confidence: 99%

An Uncommon Presentation for Cardiac Melanoma

Baykalır¹,

Young²,

Slosky³

et al. 2014

Journal of Patient-Centered Research and Reviews

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Journal of Patient-Centered Research and Reviews ( JPCRR) is a peerreviewed scientific journal whose mission is to communicate clinical and bench research findings, with the goal of improving the quality of human health, the care of the individual patient, and the care of populations. Recommended Citation An Uncommon Presentation for Cardiac Melanoma AbstractA 66-year-old man with locally advanced malignant melanoma, which was surgically resected, presented with a 3-week history of dizziness, recurrent near-syncopal episodes and generalized weakness. He was found to have sustained polymorphic ventricular tachycardia in the setting of cardiac melanoma. We draw attention to an unusual presentation of malignant melanoma with cardiac metastasis and discuss both its etiology and treatment options. (J Patient-Centered Res Rev. 2014;1:128-132.)

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“…Cerebral infarction is the most frequently observed embolic event in patients with cardiac myxomas. [2][3][4][5] However, the occurrence of myocardial in- …”

Section: Discussionmentioning

confidence: 99%

Probable Left Atrial Myxoma Presenting as Concurrent Cerebral and Myocardial Infarctions

et al. 2008

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Concurrent cerebral and coronary artery embolization is a theoretically possible, but extremely rare complication of an atrial myxoma. We present a paitent with a left atrial mass (a probable myxoma) who presented with concurrent cerebral and myocardial infarctions due to emboli of tumor origin. An 84-year-old woman presented with an acute cerebral infarction of the middle cerebral artery territory. Several hours after admission, she complained of chest pain consistent with a myocardial infarction. Transthoracic and transesophageal echocardiographic studies revealed the presence of a large, mobile, heteroechoic mass with a few daughter nodules in the left atrium, compatible with a myxoma. Coronary angiography disclosed subtotal occlusion of the ramus intermedius branch and visible tumor vascularization adjacent to the right coronary artery. With medical treatment, including anticoagulation, the patient was stabilized and had an uneventful clinical course for the ensuing 6 months since discharge.

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Cardiac Myxomas

Cited by 1,165 publications

References 100 publications

Comparative PRKAR1A genotype–phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice

Comparative PRKAR1A genotype–phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice

An Uncommon Presentation for Cardiac Melanoma

Probable Left Atrial Myxoma Presenting as Concurrent Cerebral and Myocardial Infarctions

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