PMID: 8942031Sep 1, 1996Paper

Absent pulmonary valve syndrome associated with DiGeorge syndrome: report of one case

Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]
C D LiangW C Chang

Abstract

A female infant presented with cyanosis, respiratory distress and unique to-and-fro murmur which she had since the age of 1-month-old. Absent pulmonary valve syndrome was diagnosed by echocardiography. She developed seizure disorders with hypocalcemia and pneumonia at the age of 2-month-old. The patient died from sepsis, intractable respiratory and heart failure. The postmortem study confirmed the diagnosis of congenital absent pulmonary valve associated with DiGeorge syndrome.

Related Concepts

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

Related Papers

Annals of Thoracic and Cardiovascular Surgery : Official Journal of the Association of Thoracic and Cardiovascular Surgeons of Asia
Fuad Abbag
The Journal of Veterinary Medical Science
Y FujiiY Wakao
© 2021 Meta ULC. All rights reserved