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(Circulation. 1972;46:165.)
© 1972 American Heart Association, Inc.

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Congenital Cardiovascular Disease and Anomalies of the Third and Fourth Pharyngeal Pouch

ROBERT M. FREEDOM M.D.¹; FRED S. ROSEN M.D.¹; ALEXANDER S. NADAS M.D.¹

¹ From the Department of Cardiology and the Immunology Division of the Department of Medicine of The Children's Hospital Medical Center and the Department of Pediatrics of the Harvard Medical School, Boston, Massachusetts.

Patients with the third and fourth pharyngeal pouch syndrome, thymic and parathyroid aplasia or hypoplasia, have a very high incidence of aortic arch anomalies and congenital heart disease. These patients present with a unique syndrome characterized by profound hypocalcemia, defective thymic-mediated cellular immune function, and cardiovascular anomalies. The cardiac abnormalities most frequently are conotruncal malformations of the tetralogy of Fallot or truncus arteriosus types and are often the cause of death. Patients with profound neonatal hypocalcemia should be screened for evidence of normal thymic function and congenital heart disease.

Key Words: Aortic arch anomalies • DiGeorge syndrome • Thymus • Congenital heart disease • Parathyroid glands • Conotruncal anomalies • Pharyngeal pouch syndrome

Submitted on November 3, 1971
Accepted on February 11, 1972

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