Turner syndrome, a condition that affects only girls and women, results from a missing or incomplete sex chromosome. Turner syndrome can cause a variety of medical and developmental problems, including short stature, failure to begin puberty, infertility, heart defects and certain learning disabilities. Although Turner syndrome is usually diagnosed during infancy or early childhood, a… Continue Reading
CHDs/Genetic Conditions/Related Syndromes
Dysphonia – A Frequent Symptom in TAPVR?
Dysphonia: An impairment of the voice. Difficulty in speaking. Hoarseness is a common sort of dysphonia. Total anomalous pulmonary venous connection (TAPVR) is a relatively uncommon congenital cardiac anomaly. When there is obstruction to pulmonary venous drainage or severe pulmonary hypertension due to increased pulmonary blood flow, the patient is usually critically ill and the… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
Heart Malformations Present in Klippel-Feil Syndrome
Klippel–Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any 2 of the 7 cervical vertebrae. In fact, “Klippel-Feil syndrome” occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
Patent Foramen Ovale
In normal fetal development, a small, flap-like opening — the foramen ovale (fo-RA-mun o-VA-le) — is present between the right and left upper chambers of the heart (right atrium and left atrium). The foramen ovale usually closes within the first or second year of life. However, in at least one out of four people, this… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
Heart Defects Sometimes Present in Jarcho-Levin Syndrome
Jarcho Levin syndrome is a genetic birth defect which causes malformed bones in the spine (vertebrae) and ribs (called spondylothoracic dysostosis). The chest has a distinctive crab-like appearance. Infants born with Jarcho Levin syndrome have difficulty breathing due to their small, malformed chests. Jarcho Levin syndrome affects both males and females. It is not known… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
Heart Defects Present with CHARGE Syndrome
What is CHARGE Syndrome? CHARGE syndrome is a recognizable (genetic) pattern of birth defects which occurs in about one in every 9-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
levo-Transposition of the Great Arteries
What is it? l-Transposition of the Great Arteries (also known as levo-Transposition of the Great Arteries) is the less common type of transposition. The right and left ventricles are reversed (ventricular inversion). The aorta and pulmonary artery are also connected to the wrong ventricles. Unlike in d-TGA, the aorta receives the oxygen-rich blood from the… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
Basic Info on Pediatric Cardiomyopathy
In most cases, the diagnosis of “cardiomyopathy” in a child elicits concern in both the child (if old enough to understand) and the parent. Much of this concern is because the disease is relatively rare in children and not as well publicized. Fortunately, our understanding of how the heart works under normal and abnormal conditions… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
Junctional Ectopic Tachycardia (JET)
Junctional ectopic tachycardia is a form of junctional tachycardia due to irregular conduction from or through the atrioventricular node. It is usually either present at birth, or emerges after surgery. Junctional ectopic tachycardia (JET) can be better understood by breaking down the meaning of each word. Junctional: atrioventricular node (the junction between the atria and… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
22q11 Deletion Disorders: DiGeorge and Velocardiofacial Syndromes
A few months ago, I created this post about the characteristics of DiGeorge Syndrome and VCFS. Here are some commonly asked questions regarding 22q11 deletion: What are DiGeorge syndrome and Velocardiofacial Syndrome? DiGeorge syndrome is a disorder described in the 1960’s by Dr. Angelo DiGeorge. He observed the combination of a lack of the thymus… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
