Carney Complex Clinical Presentation

  • Author: Craig T Basson, MD, PhD; Chief Editor: Richard A Lange, MD   more...
 
Updated: Jun 30, 2011
 

History

  • Patients may have a family history of cardiac myxomas and/or spotty pigmentation.
  • Patients may present with symptoms of congestive heart failure, transient ischemic attack, or stroke. Additionally, patients may present with clinical signs of Cushing syndrome or be referred during the evaluation of hyperpigmentation or the investigation of a cutaneous tumor (myxoma).
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Physical

Skin

  • Pigmentation, including blue nevi of face, lips, sclera, trunk, or genital mucosa
  • Cutaneous myxomas
  • Generalized hyperpigmentation, obesity, striae, or cushingoid appearance

Masses

  • Thyroid
  • Breast
  • Testis mass/enlargement (secondary to myxoma)

Neurologic

  • Neurologic deficit (secondary to tumor emboli)

Cardiac

  • Accentuated first heart sound and opening snap
  • Diastolic apical rumbling murmur (mimicking mitral stenosis)
  • Holosystolic murmur best heard at apex and radiating to axilla (mitral regurgitation)
  • Tumor "plop"

Systemic

  • Fever
  • Clinical signs of anemia
  • Weight loss
  • Arthralgia
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Causes

Carney complex is mostly due to mutations in the gene PRKAR1A encoding the R1a regulatory subunit of protein kinase A. Apparently, about 65% of Carney complex cases are due to mutations in the PRKAR1A gene. In a variant form of Carney complex associated with distal arthrogryposis, a mutation in the gene MYH8 encoding perinatal myosin heavy chain has been described to play a role.

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Contributor Information and Disclosures
Author

Craig T Basson, MD, PhD  Gladys and Roland Harriman Professor of Medicine, Director of the Center for Molecular Cardiology, Director of Cardiovascular Research, Division of Cardiology, Department of Medicine, Weill Cornell Medical College; Attending Physician, New York Presbyterian Hospital

Craig T Basson, MD, PhD is a member of the following medical societies: American College of Cardiology and American Heart Association

Disclosure: Nothing to disclose.

Coauthor(s)

Luke K Kim, MD  Fellow, Department of Internal Medicine, Division of Cardiology, New York Presbyterian Hospital, Weill Cornell Medical Center

Disclosure: Nothing to disclose.

Carl J Vaughan, MD, MRCPI  Adjunct Assistant Professor, Department of Internal Medicine, Division of Cardiology, Weill Medical College of Cornell University; Consulting Cardiologist, Mercy University Hospital, Ireland

Carl J Vaughan, MD, MRCPI is a member of the following medical societies: American College of Cardiology, American College of Physicians, and American Heart Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Justin D Pearlman, MD, PhD, ME, MA  Chief Division of Cardiology, Director of Cardiology Consultative Service, Director of Cardiology Clinic Service, Director of Cardiology Non-invasive Laboratory, and Director of Cardiology Quality Program KMC

Justin D Pearlman, MD, PhD, ME, MA is a member of the following medical societies: American College of Cardiology, American College of Physicians, American Federation for Medical Research, International Society for Magnetic Resonance in Medicine, and Radiological Society of North America

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Frank M Sheridan, MD  Cardiology, Providence Everett Medical Center

Frank M Sheridan, MD is a member of the following medical societies: American College of Cardiology, American Heart Association, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

Amer Suleman, MD  Private Practice

Amer Suleman, MD is a member of the following medical societies: American College of Physicians, American Heart Association, American Institute of Stress, American Society of Hypertension, Federation of American Societies for Experimental Biology, Royal Society of Medicine, and Society of Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

Chief Editor

Richard A Lange, MD  Professor and Executive Vice Chairman, Department of Medicine, Director, Office of Educational Programs, University of Texas Health Science Center at San Antonio

Richard A Lange, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Cardiology, American Heart Association, and Association of Subspecialty Professors

Disclosure: Nothing to disclose.

References

  1. Basson CT, MacRae CA, Korf B, Merliss A. Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex). Am J Cardiol. Apr 1 1997;79(7):994-5. [Medline].

  2. Stratakis CA, Carney JA, Lin JP, et al. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest. Feb 1 1996;97(3):699-705. [Medline].

  3. Casey M, Mah C, Merliss AD, et al. Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation. Dec 8 1998;98(23):2560-6. [Medline].

  4. Casey M, Vaughan CJ, He J, et al. Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. J Clin Invest. Sep 2000;106(5):R31-8. [Medline].

  5. Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, et al. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. N Engl J Med. Jul 29 2004;351(5):460-9. [Medline].

  6. Reynen K. Cardiac myxomas. N Engl J Med. Dec 14 1995;333(24):1610-7. [Medline].

  7. Goldstein MM, Casey M, Carney JA, Basson CT. Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex). Am J Med Genet. Sep 3 1999;86(1):62-5. [Medline].

  8. Carney JA, Gordon H, Carpenter PC, et al. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore). Jul 1985;64(4):270-83. [Medline].

  9. Kanda T, Umeyama S, Sasaki A, et al. Interleukin-6 and cardiac myxoma. Am J Cardiol. Nov 1 1994;74(9):965-7. [Medline].

  10. Veugelers M, Wilkes D, Burton K, et al. Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci U S A. Sep 28 2004;101(39):14222-7.

 
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Transthoracic echocardiogram of a left atrial myxoma in an individual with Carney complex. A 42-year-old woman with a history of facial spotty pigmentation and cutaneous myxomas presented for annual surveillance echocardiography. Findings from previous echocardiograms were normal. Echocardiography now revealed a 1.0 X 1.3 cm mass (arrow) in the left atrium (LA) arising from the interatrial septum above the mitral valve. No prolapse was seen into the left ventricle (LV). Histopathology upon surgical excision demonstrated that the lesion was a myxoma.
 
 
 
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