questionsmedicales.fr
Malformations et maladies congénitales, héréditaires et néonatales
Malformations
Complexe de Carney
Complexe de Carney : Questions médicales fréquentes
Diagnostic
5
Diagnostic médical
Tests génétiques
Imagerie médicale
Échographie
Critères cliniques
Tumeurs
Marqueurs biologiques
Hormones
Symptômes
5
Symptômes
Tumeurs cardiaques
Troubles hormonaux
Hyperthyroïdie
Tumeurs cutanées
Néoplasies
Symptômes cardiaques
Myxomes
Prévention
5
Prévention
Suivi génétique
Tests génétiques
Antécédents familiaux
Dépistage
Détection précoce
Consultations spécialisées
Endocrinologie
Traitements
5
Chirurgie
Traitement des tumeurs
Traitements médicaux
Déséquilibres endocriniens
Surveillance médicale
Détection précoce
Traitements ciblés
Thérapies
Complications
Suivi médical
Complications
5
Complications
Tumeurs malignes
Complications cardiaques
Embolies
Troubles endocriniens
Déséquilibres hormonaux
Risque de cancer
Oncologie
Intervention médicale
Chirurgie
Facteurs de risque
5
Facteurs de risque
Gène PRKAR1A
Hérédité
Transmission génétique
Facteurs environnementaux
Épidémiologie
Antécédents familiaux
Risque
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"name": "Comment diagnostiquer le complexe de Carney ?",
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"name": "Quels examens sont recommandés ?",
"position": 2,
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"@type": "Question",
"name": "Le diagnostic est-il génétique ?",
"position": 3,
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"text": "Oui, des tests génétiques peuvent confirmer la présence de mutations dans le gène PRKAR1A."
}
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{
"@type": "Question",
"name": "Quels critères cliniques sont utilisés ?",
"position": 4,
"acceptedAnswer": {
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"text": "Les critères incluent des tumeurs cardiaques, cutanées et endocriniennes."
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"@type": "Question",
"name": "Y a-t-il des marqueurs biologiques ?",
"position": 5,
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"text": "Des niveaux anormaux d'hormones peuvent indiquer des dysfonctionnements endocriniens."
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{
"@type": "Question",
"name": "Quels sont les symptômes principaux ?",
"position": 6,
"acceptedAnswer": {
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"text": "Les symptômes incluent des tumeurs cardiaques, des troubles hormonaux et des anomalies cutanées."
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"name": "Comment se manifestent les troubles hormonaux ?",
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"position": 9,
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"position": 10,
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"name": "Peut-on prévenir le complexe de Carney ?",
"position": 11,
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{
"@type": "Question",
"name": "Les tests génétiques sont-ils recommandés ?",
"position": 12,
"acceptedAnswer": {
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"text": "Oui, les tests génétiques sont conseillés pour les membres de la famille d'un patient."
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{
"@type": "Question",
"name": "Y a-t-il des conseils de mode de vie ?",
"position": 13,
"acceptedAnswer": {
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"text": "Un mode de vie sain peut aider à réduire les risques de complications associées."
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"@type": "Question",
"name": "Les dépistages réguliers sont-ils utiles ?",
"position": 14,
"acceptedAnswer": {
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{
"@type": "Question",
"name": "Les consultations spécialisées sont-elles nécessaires ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des consultations avec des spécialistes en endocrinologie et oncologie sont recommandées."
}
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{
"@type": "Question",
"name": "Quel est le traitement principal ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement principal est chirurgical pour retirer les tumeurs, surtout cardiaques."
}
},
{
"@type": "Question",
"name": "Des traitements médicaux sont-ils disponibles ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des traitements hormonaux peuvent être nécessaires pour gérer les déséquilibres endocriniens."
}
},
{
"@type": "Question",
"name": "La surveillance est-elle nécessaire ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une surveillance régulière est essentielle pour détecter de nouvelles tumeurs."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements ciblés ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de traitements ciblés spécifiques pour le complexe de Carney."
}
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{
"@type": "Question",
"name": "Comment gérer les complications ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion des complications nécessite une approche multidisciplinaire et un suivi régulier."
}
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"@type": "Question",
"name": "Quelles sont les complications possibles ?",
"position": 21,
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"@type": "Answer",
"text": "Les complications incluent des tumeurs malignes, des troubles cardiaques et endocriniens."
}
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{
"@type": "Question",
"name": "Les complications cardiaques sont-elles fréquentes ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les myxomes cardiaques peuvent entraîner des complications graves comme des embolies."
}
},
{
"@type": "Question",
"name": "Comment les troubles endocriniens affectent-ils la santé ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils peuvent provoquer des déséquilibres hormonaux, affectant divers systèmes corporels."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque de cancer ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients ont un risque accru de développer certains types de cancers."
}
},
{
"@type": "Question",
"name": "Les complications nécessitent-elles une intervention ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines complications peuvent nécessiter une intervention chirurgicale ou médicale."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque génétiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les mutations dans le gène PRKAR1A sont un facteur de risque majeur pour le complexe de Carney."
}
},
{
"@type": "Question",
"name": "L'hérédité joue-t-elle un rôle ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le complexe de Carney est souvent héréditaire, transmis de manière autosomique dominante."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de facteurs environnementaux clairement identifiés."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux augmentent-ils le risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux de tumeurs ou de maladies endocriniennes augmentent le risque."
}
},
{
"@type": "Question",
"name": "Les femmes sont-elles plus à risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, le risque est similaire chez les hommes et les femmes, sans prédisposition de sexe."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 26/04/2026
Contenu vérifié selon les dernières recommandations médicales
8 publications dans cette catégorie
Affiliations :
Section on Endocrinology and Genetics & Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.
4 publications dans cette catégorie
Affiliations :
Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Publications dans "Complexe de Carney" :
4 publications dans cette catégorie
Affiliations :
INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, 75005 Paris.
Department of Endocrinology, Reference center for rare adrenal diseases, Cochin Hospital, APHP, 75014 Paris, France.
Publications dans "Complexe de Carney" :
3 publications dans cette catégorie
Affiliations :
Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institutes of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. georgia.pitsava@nih.gov.
Section on Genetics and Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, 10 Center Drive, Building 10, NIH-Clinical Research Center, Bethesda, MD, USA. georgia.pitsava@nih.gov.
Publications dans "Complexe de Carney" :
3 publications dans cette catégorie
Affiliations :
Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Publications dans "Complexe de Carney" :
3 publications dans cette catégorie
Affiliations :
Univ Rouen Normandie, INSERM, NORDIC UMR 1239, CHU Rouen, Department of Endocrinology, F-76000 Rouen, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
Institut Genetics, Reproduction & Development (iGReD), CNRS, Inserm, University of Clermont-Auvergne, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
Institut Genetics, Reproduction & Development (iGReD), CNRS, Inserm, University of Clermont-Auvergne, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
Institut Genetics, Reproduction & Development (iGReD), CNRS, Inserm, University of Clermont-Auvergne, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
Institut Genetics, Reproduction & Development (iGReD), CNRS, Inserm, University of Clermont-Auvergne, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
Institut Genetics, Reproduction & Development (iGReD), CNRS, Inserm, University of Clermont-Auvergne, France. Electronic address: antoine.martinez@uca.fr.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, 75005 Paris.
Department of Endocrinology, Reference center for rare adrenal diseases, Cochin Hospital, APHP, 75014 Paris, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, 75005 Paris.
Department of Endocrinology, Reference center for rare adrenal diseases, Cochin Hospital, APHP, 75014 Paris, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
Department of Endocrinology, Diabetology, Metabolism and Nutrition, Lille University Hospital, University of Lille, Inserm 1190, 59000 Lille, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
Department of Oncogenetics, Cochin Hospital, APHP, 75014 Paris, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
Department of Endocrinology, Diabetology, Metabolism and Nutrition, Lille University Hospital, University of Lille, Inserm 1190, 59000 Lille, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
Department of Endocrinology, Groupement Hospitalier Est, Hospices Civils de Lyon, 69677 Bron, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
Department of Endocrinology, Diabetology and Metabolism, Bordeaux University Hospital, 33600 Pessac, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
Department of Endocrinology, Diabetology and Metabolism, Bordeaux University Hospital, 33600 Pessac, France.
Publications dans "Complexe de Carney" :
2 publications dans cette catégorie
Affiliations :
INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, 75005 Paris.
Department of Endocrinology, Reference center for rare adrenal diseases, Cochin Hospital, APHP, 75014 Paris, France.
Publications dans "Complexe de Carney" :
Carney syndrome is an uncommon autosomal disorder closely linked to mutations in the PRKAR1A gene. Skin lesions are the most pronounced feature of Carney syndrome, affecting over 80% of individuals wi...
Herein, we report a case of heart failure due to Carney syndrome that resulted in cardiac myxoma combined with dilated cardiomyopathy. A 35-year-old male was admitted to the hospital three years ago b...
Cardiac myxoma caused by Carney syndrome combined with heart failure caused by dilated cardiomyopathy can be resolved by heart transplantation....
Carney complex (CNC) is a familial neoplasia syndrome associated with growth hormone (GH) excess (GHE)....
To describe the frequency of GHE in a large cohort of patients with CNC, and to identify genotype-phenotype correlations....
Patients with CNC with at least one biochemical evaluation of GH secretion at our center from 1995-2021 (n=140) were included in the study. Diagnosis of GHE was based on levels of insulin-like growth ...
Fifty patients (35.7%) had GHE and 28 subjects (20%) had symptomatic acromegaly, with median age at diagnosis of 25.3 and 26.1 years respectively. Most of the patients (99.3%) had a PRKAR1A gene defec...
Dysregulation of GH secretion is a common finding in CNC. The clinical spectrum of this disorder and its association with genetic and imaging characteristics of the patient make prompt diagnosis and m...
A 25-year-old female Carney complex patient with a PRKAR1A mutation who had undergone surgery to remove teratomas visited our dermatology department. She was suspected of having a malignant melanoma i...
Carney complex is a rare autosomal dominant familiar multiple neoplasia syndrome combined with cardiocutaneous manifestations. Our report describes a Carney complex case with bilateral myxoid fibroade...
We present our surgical experience with cardiac myxomas in the setting of Carney Complex (CNC)....
We searched our institutional data explorers to identify patients diagnosed with CNC. We gathered clinical, surgical, and recurrence data from electronic medical records. In total, 38 patients with Ca...
There were 24 (63.1%) patients who developed cardiac myxomas in the setting of Carney Complex. The median age of onset for cardiac myxoma occurrence was 39.0 years (interquartile range[IQR], 25.0-56.0...
Nearly two-thirds of CNC patients in this study (63.1%) developed cardiac myxomas, and more than half (54.1%) experienced recurring instances. Consistent monitoring through echocardiograms is essentia...
Osteochondromyxoma (OMX) is an extremely rare bone tumor and has been classified by the World Health Organization as a benign chondrogenic bone tumor. The tumor can be associated with Carney complex w...
Carney Complex (CNC) is a rare genetic syndrome, mostly due to germline loss-of-function pathogenic variants in PRKAR1A. CNC includes pigmented skin lesions, cardiac myxomas, primary pigmented nodular...
The present study was designed to describe the characteristics of breast lesions in CNC patients and their association with other manifestations of CNC and PRKAR1A genotype....
A 3 years' follow-up multicenter French prospective study of CNC patients (ClinicalTrial.gov NCT00668291) included 50 women who were analyzed for CNC manifestations and particularly breast lesions, wi...
Among the 38 women with breast imaging, 14 (39%) had breast lesions, half of them bilateral. Ten women (26%) presented with benign lesions and six with breast carcinomas (16%): one had ductal carcinom...
As CNC could predispose to breast carcinoma, an adequate screening strategy and follow up should be discussed in affected women....
Thyroid cancer, being the prevailing form of endocrine malignancy, exhibits a notable surge in its incidence rates. Follicular thyroid carcinoma (FTC) and papillary thyroid carcinoma (PTC) represent t...
ACTH-independent Cushing's Syndrome (CS) is very rare condition in children. Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of CS, which in most cases occurs in the context o...
A 10-year-old boy first came to our Outpatient clinic due to severe obesity. During the first three months of follow-up the height growth rate was normal, but the response to dietary-behavioural indic...
This is the first report on the clinical and biochemical effects of 2-year medical treatment with metyrapone of PPNAD-related hypercortisolaemia in a paediatric patient with CNC. Currently, there are ...
Pediatric pulmonary embolism occurs in 8.6-57 per 100,000 hospitalised children. We report a novel case of bilateral pulmonary emboli in a child presenting with dyspnoea who was found to have large ri...