Thrombocytopenia-absent radius (TAR) syndrome is a rare condition that is apparent at birth. Affected infants are born with incomplete or missing forearms. Typically, the bone on the thumb side of the forearm (radius) is absent, but other bones may be missing or abnormally formed. TAR syndrome also causes life-threatening bleeding episodes due to low levels… Continue Reading
CHDs/Genetic Conditions/Related Syndromes
Endocardial Fibroelastosis
Endocardial fibroelastosis is characterized by diffuse endocardial thickening and myocardial dysfunction. The endocardial thickening is believed to be caused by persistent and increased wall tension in the ventricles, possibly secondary to damaged myocardium, mitral regurgitation, or both. It presents as unexplained heart failure in infants and children. The disease can be primary or secondary to… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
What is Wolff-Parkinson-White Syndrome?
Wolff-Parkinson-White syndrome, or WPW syndrome, is the presence of an extra abnormal electrical pathway in the heart that leads to periods of a very fast heartbeat (tachycardia). The extra electrical pathway of Wolff-Parkinson-White syndrome is congenital (present at birth). While people of all ages, including infants, can experience the effects of Wolff-Parkinson-White syndrome, episodes of… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
What is Mycocarditis?
Myocarditis is a condition where the muscular walls of the heart become inflamed. Myocarditis typically results in poor heart function. There are many causes of myocarditis including infections, medications, chemicals, radiation, and certain diseases that cause inflammation in many different organs of the body. In most children, myocarditis is triggered by an infection, usually viral,… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
Heart Defects Sometimes Present in Ring 18
Introduction The goal of this article is to describe the major features of ring 18. This information may help you and your health care team make decisions about how to care for a person with ring 18. As you read through this article, remember that no two people with ring 18 are exactly alike. One… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
Types of Ventricular Septal Defects
Definition A ventricular septal defect (VSD) is a hole or a defect in the septum that divides the 2 lower chambers of the heart and that results in a communication between the ventricular cavities. The defect may occur as a primary anomaly with or without additional major associated cardiac defects. At 4-8 weeks’ gestation, the… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
Ectopia Cordis
Ectopia Cordis is a birth defect in which the heart is abnormally located. The malfunction happens when the sternum forms during the gestation period and the heart begins to grow in the wrong place. In the most common form, the heart protrudes outside the chest through a split sternum. The ectopic heart is not protected… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
Congenital Heart Problems Present in Williams Syndrome
Williams Syndrome is a rare neurodevelopmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7. It is characterized by a distinctive, “elfin” facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; mental retardation (for persons who are diagnosed as mentally retarded)… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
Heart Defects Present with Marfan Syndrome
Marfan syndrome is a disorder involving the body’s connective tissue. Connective tissue has many important functions, including the following: assisting with growth and development of the body’s cells, both before and after birth supporting tissues in the body acting as an adhesive to hold certain tissues together protecting joints facilitating the passage of light through… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
Heart Defects Present with VACTERL/VATER Association
What is VACTERL association? VACTERL or VATER association is an acronym used to describe a series of characteristics which have been found to occur together. V stands for anomalies of the vertebrae, which are the bones of the spinal column. A stands for imperforate anus or anal atresia, or an anus that does not open… Continue Reading
Filed Under: CHDs/Genetic Conditions/Related Syndromes
