NICHD research on Carney complex and related conditions aims to increase the understanding of the disease and improve disease management.
NICHD research aims to improve diagnosis, treatment, and overall understanding of Carney complex and related conditions. To achieve these goals, the institute relies on a strategy of multidisciplinary collaborations with investigators from several NIH institutes and medical centers.
Advances related to Carney complex include new insights into the following:
- Increased incidence of thyroid tumors among patients with Carney complex
Most cases of Carney complex are caused by inactivating mutations in the PRKAR1A gene. In this study, researchers examined the possibility that the PRKAR1A gene is involved in the molecular events that contribute to thyroid cancer. (PMID: 34359735)
- Methods for predicting the risk of cardiac myxoma in Carney complex
Researchers in this study aimed to identify risk factors associated with the occurrence and recurrence of cardiac myxomas, the main cause of death in patients with Carney complex. (PMID: 32893266)
- The liver’s involvement in patients with Carney complex
Researchers determined that patients with Carney complex have a high rate of liver lesions, with higher rates in the patient subgroups with a PRKAR1A variant detected. (PMID: 32302974)
- The pathology, genetics, and complications of Carney complex
Carney complex is a rare, autosomal-dominant syndrome caused in most patients by defects in the PRKAR1A gene. (PMID: 30428497)
- A previously unidentified gene mutation associated with Carney complex
Carney complex is most often inherited, passed down from parent to child. Several gene mutations have been linked to the condition. In this case study of one Carney complex patient, researchers identified an additional mutation. (PMID: 27377598)