Genetic Heterogeneity of Familial Atrial Myxoma Syndromes (Carney Complex)

Basson, Craig T.; MacRae, Calum A.; Korf, Bruce R.; Merliss, Andrew

doi:10.1016/s0002-9149(97)00033-7

Cited by 48 publications

(18 citation statements)

References 5 publications

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“…Locus 17cM on chromosome 17q2 has been described to cause Carney complex-associated familial cardiac myxomas [6]. There is considerable heterogeneity existing in such locus, and other loci must be searched [8]. Locus for a nonsyndromic familial variant of cardiac myxoma needs to be ascertained after multiple karyotypic studies, flow cytometry [9] and genetic mapping in cases of nonsyndromic familial cardiac myxomas [9].…”

Section: Discussionmentioning

confidence: 99%

Familial atrial myxoma in three generations: case report

Bhalerao

Bhosle

Joshi

et al. 2014

Indian J Thorac Cardiovasc Surg

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Familial myxomas constitute 7 % of the total myxoma population exhibiting Mendelian autosomal dominant inheritance. We present a rare case of autosomal dominant benign familial myxoma occurring in three generations of the family operated successfully at our institute. A 40-year-old female presented with chest pain and palpitation, was diagnosed with left atrial myxoma, and was operated in 1993. After 2 years of surgery, the patient developed recurrent myxoma, and excision was done in 1995. A 22-year-old son complained of dyspnoea and chest pain. On evaluation, 5.6×2.6 cm right atrial myxoma attached to the roof of the right atrium was found, and the patient underwent myxoma excision in 2007. A 3-year-old granddaughter suffered from right hemiplegia. Echocardiography revealed left atrial myxoma 3 cm×2 cm pedunculated lesion causing diastolic obstruction of mitral inflow. Operated patients in all three generations and other siblings have been genetically screened. On genetic evaluation, all diseased had autosomal dominant single-gene defect or microdeletion. Atrial myxomas presented at earlier age successively and in more aggressive form in these three generations.

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Section: Discussionmentioning

confidence: 99%

Familial atrial myxoma in three generations: case report

Bhalerao

Bhosle

Joshi

et al. 2014

Indian J Thorac Cardiovasc Surg

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“…Cardiac myxoma may be part of the Carney complex,12 an autosomal dominant syndrome, comprising multiple and recurrent myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis) and endocrine dysfunction. Mutations in the putative tumour suppressor gene Protein Kinase, CAMP-Dependent, Regulatory, Type I, Alpha (PRKAR1A), located at 17q24, have been found in some patients 13…”

Section: Types Of Cardiac Massmentioning

confidence: 99%

Cardiac masses and tumours

Basso

Rizzo

Valente

et al. 2016

Heart

100

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“…In the last 2 years, several families with CNC were described that did not map to chromosome 2 [81, 82]. Genetic heterogeneity was confirmed in this syndrome when a second locus on 17q22–24 was identified [71].…”

Section: Carney Complexmentioning

confidence: 99%

Genetics of Peutz-Jeghers Syndrome, Carney Complex and Other Familial Lentiginoses

Stratakis

2000

Horm Res Paediatr

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Peutz-Jeghers syndrome (PJS, #175200) and Carney complex (CNC, OMIM#160980) are the two most common multiple neoplasia syndromes associated with lentiginosis. Both disorders are inherited in an autosomal dominant manner and they have recently been elucidated at the molecular level. PJS and CNC share manifestations with Cowden syndrome (or Cowden disease) (CS, OMIM#158350) and Bannayan-Riley-Ruvalcaba syndrome (BRR, OMIM#153480). The endocrine tumors of CS and PJS, which could classify these disorders as variant types of multiple endocrine neoplasias (MENs), are not present in most CS and BRR patients, but lentigines are shared by PJS, CNC and BRR. The serine-threonine kinase STK11 (or LKB1), located on 19p13, is mutated in more than half of all PJS kindreds. The R1α subunit of c-AMP-dependent protein kinase A, located on 17q22–24, is mutated in 40% of CNC kindreds. The protein phosphatase PTEN is mutated in most cases of CS and in almost 50% of BRR kindreds, despite significant clinical heterogeneity in these syndromes. The molecular elucidation of the lentiginoses and their related syndromes identifies new pathways of growth control and cellular regulation that are important for endocrine signaling, tumorigenesis, cutaneous function and embryonic development.

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Genetic Heterogeneity of Familial Atrial Myxoma Syndromes (Carney Complex)

Cited by 48 publications

References 5 publications

Familial atrial myxoma in three generations: case report

Familial atrial myxoma in three generations: case report

Cardiac masses and tumours

Genetics of Peutz-Jeghers Syndrome, Carney Complex and Other Familial Lentiginoses

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