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What Are the Main Acyanotic Congenital Heart Diseases?
Discussion Congenital heart diseases (CHD) are malformations of the heart and great vessels. It occurs in about 5-8/1000 live births. Cyanotic congenital heart disease is often noted perinatally because of cyanosis, respiratory distress and/or poor feeding or other distress type problems. A review can be found here. Acyanotic congenital heart disease (ACHD) can present at birth but often is seen in older children or adults unless the lesions are severe, especially obstructive lesions. Severe lesions may also cause cyanosis and distress type problems in patients also. Shunting lesions cause problems by diverting blood flo...
Source: PediatricEducation.org - August 17, 2020 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

What is Ondine ’ s Curse?
Discussion Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant with variable inheritance genetic disease caused by mutation in the Paired Like Homeobox B2 (PHOX2B) gene on chromosome 4. There are two other genes which may also cause CCHS. CCHS affects the chemoreceptor afferent ventilation pathways and is a neural crest migration problem of the autonomic nervous system. The incidence is unknown but a prevalence of 1 in 200,000 live births has been reported. Obviously it is a rarer phenomenon because of the general lethality of the syndrome. Patients usually present at birth or soon afterwards, but o...
Source: PediatricEducation.org - August 15, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news