Dataset Information

Predicting the risk of cardiac myxoma in Carney complex.

ABSTRACT:

Purpose

Carney complex (CNC), is an autosomal dominant multiple neoplasia and lentiginosis syndrome. We aimed to identify risk factors associated with the occurrence and recurrence of cardiac myxomas, the predominant cause of death in CNC patients.

Methods

Patients with CNC were monitored prospectively between 1995 and 2020 for the development of cardiac myxomas.

Results

Of the 319 patients studied, 136 (42.6%) developed myxomas. The mean age at diagnosis was 28.7?±?16.6 years in females and 25.0?±?16.4 years in males. By age 30, 35% of females and 45% of males had at least one myxoma. The CNC-related lesions, lentigines, cutaneous, mucosal, or breast myxomas, thyroid nodules, pituitary adenoma, and schwannoma were significantly more frequent (all p?ConclusionThis is the largest study to date and provides the first-time risk estimates by age and gender for cardiac myxomas in CNC patients. Cardiac myxomas are common by age 30 and often recur, especially in women, but the risk drops in 10 to 20 years. These findings may guide patient counseling, screening intervals, and surgical approaches.

Clinical trial registration

Clinical Trial Registration: Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease and the Carney complex, Registration number: NCT00001452 URL: https://clinicaltrials.gov/ct2/show/NCT00001452.

SUBMITTER: Pitsava G

PROVIDER: S-EPMC7796922 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Publications

Predicting the risk of cardiac myxoma in Carney complex.

Pitsava Georgia G Zhu Chunming C Sundaram Rajeshwari R Mills James L JL Stratakis Constantine A CA

Genetics in medicine : official journal of the American College of Medical Genetics 20200907 1

<h4>Purpose</h4>Carney complex (CNC), is an autosomal dominant multiple neoplasia and lentiginosis syndrome. We aimed to identify risk factors associated with the occurrence and recurrence of cardiac myxomas, the predominant cause of death in CNC patients.<h4>Methods</h4>Patients with CNC were monitored prospectively between 1995 and 2020 for the development of cardiac myxomas.<h4>Results</h4>Of the 319 patients studied, 136 (42.6%) developed myxomas. The mean age at diagnosis was 28.7 ± 16.6 ye ...[more]

PMID: 32893266

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Project description:INTRODUCTION: Carney complex is a multiple neoplasia syndrome involving cardiac, endocrine, neural and cutaneous tumors with a variety of pigmented skin lesions. It has an autosomal dominant mode of inheritance. Approximately 7% of cardiac myxomas are related to the Carney complex. Myxomas that occur as part of the Carney complex affect both sexes with equal frequency. Cardiac myxomas with Carney complex are reported mostly in the left side of the heart and are less common on the right side. As per our review, this is the first reported case of Carney complex with right ventricle cardiac myxoma. CASE PRESENTATION: We present a rare case of recurrent cardiac myxoma in a patient later diagnosed to have Carney complex. A 46-year-old Caucasian man with a history of thyroid hyperplasia came to out-patient cardiology department with new onset atrial fibrillation. A transthoracic echocardiogram revealed a right ventricular mass attached to his interventricular septum, which was later seen on a transesophageal echocardiogram and cardiac magnetic resonance imaging. He underwent resection of the ventricular mass which on pathology revealed myxoma. He later developed skin lesions, pituitary adenoma and Sertoli cell tumor suggesting Carney complex. Two years later he developed a new mass within his right atrium which was later resected. CONCLUSIONS: Carney complex is a rare autosomal dominant disease with variable penetrance. Since it involves multiple organs, patients diagnosed with Carney complex should undergo serial endocrine workup, neural assessments, echocardiograms and testicular ultrasounds. Of the total number of cases of Carney complex, 65% are linked to PRKAR1A gene mutation. It is important for clinicians to be cognizant of a link between cardiac myxoma and Carney complex. The use of multi-imaging modalities allows better delineation of the mass before planned resection. Carney complex-related cardiac myxoma comprises 7% of all cardiac myxomas. Right ventricular cardiac myxomas are rare. This case report is the first to describe right ventricular myxoma with Carney complex.

Project description:Objective This study aims to identify relevant risk factors, assess the interactions between variables, and establish a predictive model for ischemic stroke (IS) in patients with cardiac myxoma (CM) using the Bayesian network (BN) approach. Methods Data of patients with CM were collected from three tertiary comprehensive hospitals in Beijing from January 2002 to January 2022. Age, sex, medical history, and information related to CM were extracted from the electronic medical record system. The BN model was constructed using the tabu search algorithm, and the conditional probability of each node was calculated using the maximum likelihood estimation method. The probability of each node of the network and the interrelationship between IS and its related factors were qualitatively and quantitatively analyzed. A receiver operating characteristic (ROC) curve was also plotted. Sensitivity, specificity, and area under the curve (AUC) values were calculated and compared between the BN and logistic regression models to evaluate the efficiency of the predictive model. Results A total of 416 patients with CM were enrolled in this study, including 61 with and 355 without IS. The BN model found that cardiac symptoms, systemic embolic symptoms, platelet counts, and tumor with high mobility were directly associated with the occurrence of IS in patients with CM. The BN model for predicting CM-IS achieved higher scores on AUC {0.706 [95% confidence interval (CI), 0.639–0.773]} vs. [0.697 (95% CI, 0.629–0.766)] and sensitivity (99.44% vs. 98.87%), but lower scores on accuracies (85.82% vs. 86.06%) and specificity (6.56% vs. 11.48%) than the logistic regression model. Conclusion Cardiac symptoms, systemic embolic symptoms, platelet counts, and tumor with high mobility are candidate predictors of IS in patients with CM. The BN model was superior or at least non-inferior to the traditional logistic regression model, and hence is potentially useful for early IS detection, diagnosis, and prevention in clinical practice.

Dataset Information

Predicting the risk of cardiac myxoma in Carney complex.

Purpose

Methods

Results

Clinical trial registration

Publications

Predicting the risk of cardiac myxoma in Carney complex.

Similar Datasets

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