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Atrial myxoma and associated Cushing syndrome: Carney complex
Cristhian E Scatularo1, Leonardo Briceño2, Miguel Sellanes3
1División de Cardiología, Sanatorio de la Trinidad de Palermo, Buenos Aires, Argentina.
Insights
This case study highlights Carney Complex, a rare disorder diagnosed in a woman with Cushing's syndrome and a cardiac myxoma. Early diagnosis and treatment are crucial for managing this complex endocrine and cardiac condition.
Area of Science:
- Endocrinology
- Cardiology
- Genetics
Background:
- A 33-year-old woman presented with a complex medical history including hypertension, hypothyroidism, polycystic ovary syndrome, and metabolic syndrome.
- A family history of premature death from cardiovascular disease raised concerns for underlying genetic conditions.
Observation:
- Diagnostic workup revealed Cushing's syndrome secondary to a pituitary microadenoma, identified as the cause of secondary arterial hypertension.
- Cardiac evaluation detected a left atrial myxoma, a rare cardiac tumor.
Findings:
- The patient met the diagnostic criteria for Carney Complex, a rare genetic disorder characterized by spotty skin pigmentation, myxomas, and endocrine overactivity.
- Surgical resection of the atrial myxoma was successful, with pathology confirming the diagnosis.
- The patient's hypertension was attributed to Cushing's syndrome, with other potential causes like renal stenosis ruled out.
Implications:
- This case underscores the importance of recognizing the multifaceted presentation of Carney Complex, involving both endocrine and cardiac systems.
- Timely diagnosis and multidisciplinary management, including surgical intervention for cardiac myxomas and pituitary adenomas, are essential for improving patient outcomes.
- Further genetic counseling and long-term surveillance are recommended for patients diagnosed with Carney Complex due to its hereditary nature and potential for recurrence.
Abstract:
A 33-year-old woman with a history of high blood pressure since she was 8 years old, hypothyroidism, polycystic ovary syndrome, metabolic syndrome, multiple nevi, and a maternal family history of death at age 50 due to malignant high blood pressure and heart failure. Cushing's syndrome secondary to a secretory pituitary microadenoma was diagnosed, being the cause of secondary arterial hypertension, and ruling out other causes such as renal stenosis and coarctation of the aorta. A transthoracic and transesophageal echocardiogram was performed, which detected a left atrial myxoma. Given the presence of an atrial myxoma, Cushing's syndrome and polycystic ovary syndrome, a diagnosis of Carney Complex was made due to the presence of positive Stratakis criteria. The cardiac tumor was resected, and pathology confirmed that it was an atrial myxoma. She evolved clinically stable in outpatient controls in a 6-month follow-up. Resection of the pituitary microadenoma is planned as a curative treatment for Cushing's syndrome and arterial hypertension.
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