Key result
In a 3-year prospective follow-up of 70 patients with Carney Complex, newly diagnosed manifestations included subclinical acromegaly (n=6), cardiac myxomas (n=2), and recurrent myxomas (n=4).
Why the study?
Carney complex manifestations and genotype-phenotype correlations were previously described only in retrospective studies, lacking prospective evaluations of the occurrence of different manifestations.
Cohort (n=70)
Yes
A 3-year prospective follow-up of Carney Complex patients demonstrates the need for biannual screening for cardiac myxomas, while screening for other manifestations can be performed less frequently.
May inform myxoma screening intervals in Carney complex; leaves open optimal frequency for other manifestations and requires validation.
INTRODUCTION: Carney Complex (CNC) is a rare multiple endocrine and nonendocrine neoplasia syndrome. Manifestations and genotype-phenotype correlations have been described by retrospective studies, but no prospective study evaluating the occurrence of the different manifestations has been available so far. METHODS: This multicenter national prospective study included patients with CNC, primary pigmented nodular adrenal disease (PPNAD), or a pathogenic PRKAR1A mutation; after a full initial workup, participants were followed for 3 years with annual standardized evaluation. RESULTS: The cohort included 70 patients (50 female/20 male, mean age 35.4 ± 16.7 years, 81% carrying PRKAR1A mutation). The initial investigations allowed identification of several manifestations. At the end of the 3-year follow-up, the newly diagnosed manifestations of the disease were subclinical acromegaly in 6 patients, bilateral testicular calcifications in 1 patient, and cardiac myxomas in 2 patients. Recurrences of cardiac myxomas were diagnosed in 4 patients during the 3-year follow-up study period. Asymptomatic abnormalities of the corticotroph and somatotroph axis that did not meet criteria of PPNAD and acromegaly were observed in 11.4% and 30% of the patients, respectively. Patients carrying the PRKAR1A c.709-7del6 mutation had a mild phenotype. CONCLUSION: This study underlines the importance of a systematic follow-up of the CNC manifestations, especially a biannual screening for cardiac myxoma. By contrast, regular screening for the other manifestations after a first extensive workup could be spread out, leading to a lighter and more acceptable follow-up schedule for patients. These are important results for recommendations for long-term management of CNC patients.
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Espiard et al. (2020) conducted a cohort in Carney Complex (CNC), primary pigmented nodular adrenal disease (PPNAD), or pathogenic PRKAR1A mutation (n=70). Carney Complex (CNC), PPNAD, or PRKAR1A mutation was evaluated on Newly diagnosed manifestations of the disease. In a 3-year prospective follow-up of 70 patients with Carney Complex, newly diagnosed manifestations included subclinical acromegaly (n=6), cardiac myxomas (n=2), and recurrent myxomas (n=4).
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