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Updated: Aug 7, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Carney's Complex: familial cardiac myxoma]
Miguel S Guerra1, Nelson Santos, Fátima Neves
1Serviço de Cirurgia Cardio-Torácica do Centro Hospitalar de Vila Nova de Gaia.
Summary
Carney Complex, a rare genetic disorder, involves multiple tumors. This case highlights key features and the importance of regular heart screenings for affected individuals and their families.
Area of Science:
- Endocrinology
- Genetics
- Cardiology
Background:
- Carney Complex is a rare autosomal dominant disorder characterized by multiple neoplasias.
- It was first described in 1985, encompassing myxomas, spotty pigmentation, and endocrine overactivity.
Observation:
- A case report details an elderly woman with Carney Complex.
- She presented with facial hirsutism, acromegalic facies, facial pigmented swelling, and a left atrial cardiac myxoma.
Findings:
- The patient exhibited classic features of Carney Complex, including mucocutaneous lesions and a cardiac myxoma.
- This presentation underscores the multisystemic nature of the syndrome.
Implications:
- Periodic echocardiographic screening is crucial for early detection of cardiac myxomas in patients and families.
- Genetic counseling and lifelong surveillance are recommended for individuals with Carney Complex.
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