The Big Blue Book - 1998 International Family Conference

Disclaimer: This book was created after the 1998 Family Conference.  The articles are important to all of those involved with RTS.  This is online without permission from Dr. Rubinstein and the Cincinnatti Rubinstein-Taybi organization.  They would prefer that you call Dr. Rubinstein at  1-800-344-2462 ext. 4621 and request a copy of the book.  I would encourage everyone, especially those with a child who has RTS to call the above number and request a copy of this book.  I have been reassured by Mark Shannon that this book will be sent to anyone who requests it, regardless of country.
All the information from the book is not online (another reason to call and request the book).  Left out are articles which are copyrighted or are not appropriate for the web site (includes list of attendees).  All articles which are deemed “public domain” are included..
Diane Wardlow

Cardiac Evaluation in Children
With Rubinstein-Taybi Syndrome (RTS)

David C. SChwartz, M.D.
Children’s Hospital Medical Center
Cincinnati, Ohio

Approximately, one-third of children with RTS are born with congenital abnormalities of the heart compared to 1% of the general population.  Children with RTS have a variety of cardiac defects, none of which are specific for the syndrome.

Durng the newborn period and early infancy, a cardiac abnormality may be suspected on the basis of fast and labored breathing by the infant, particularly during feeding, tiredness and sweating during feeding and blueness of the lips made more intense by crying or increased activity.  Poor growth, especially lack of normal weight gain, often occurs in infants with severe cardiac abnormalities.  virtually, all important cardiac defects produce a heart murmur which can be detected by listening to the child’s heart.  It should be emphasized, however, the term “heart murmur” does not describe a disease but the sound of blood flowing through the heart.  There are various kinds  of murmurs, some of which are not abnormal, referred to as innocent murmurs, which occur in a large proportion of normal children.

It is now possible ot accurately identify congenital heart disease prenatally.  Fetal ultrasound performed between the 18th and 24th week of pregnancy can provide diagnostic images of the fetal heart.  Ultrasound utilizes high-frequency sound waves transmitted into the body. Ultrasound echoes return from the surface of the heart and are electronically plotted and recorded into real time so that it is possible to see on a television monitor, during the test, images of the heart, including valves and chambers.  The Doppler study, which is part of the ultrasound technique, is used to measure the speed with which blood flow travels through the heart and across valves and is useful in measuring abnormal flow patterns, which accompany certain types of heart defects.  The Doppler studies can be color coded to permit visual demonstration of abnormal flow patterns.  The echo/Doppler technique makes it possible to see all four chambers of the heart and to measure the function of the valves and determine whether the chambers are of normal size and are functioning appropriately.  In addition, the Doppler technique allows the cardiologist to estimate the pressures in the heart to evaluate the severity of blockage of heart valves.

A chest x-ray is often used to evaluate children with suspected congenital heart disease.  This study is used to detect overall configuration and size of the heart as well as abnormal flow of blood in the lungs.

The electrocardiogram, which is also frequently utilized int he cardiac evaluation, records each heart beat, which is the electrical impulse that travels through the heart.  The electrodes placed on the child’s chest, arms and legs measure this electrical activity.  The electrocardiogram is particularly useful in detecting abnormal heart rates or abnormal heart thythms.  It is also used to detect enlargement of the heart chambers.

Children with innocent heart murmurs have no abnormalities of the heart and do not require treatment or further follow-up evaluation.  Newborns with cyanotic heart defects require urgent care.  These babies are blue (cyanotic) because there is insufficient oxygen in the blood.  Infants born with severe obstruction of blood flow from the heart to the lungs or to the body require emergency intervention, usually surgical management.  Babies who develop congestive heart failure manifested by rapid breathing and poor growth require immediate treatment; often, a combination of medical therapy with one or more surgical procedures.  Many cardiac problems in infants and children can be teated with medications or by therapeutic cardiac catheterization.  Heart medications are often used to treat heart failure by relieving congestion in the lungs and improving cardiac function.  In adidtion, cardiac medications can be used to control abnormal heart thythms, especially fast rhythms, (tachycardia).  In some children, a special balloon catheter can be inserted from the artery or vein in the leg and advanced into the heart or a vessel near the heart to dilate a narrowed valve or to relieve partial obstruction of one of the major arteries.  Catheter balloon valvuloplasty or angioplasty, as it is called, is an important advance that permits many children to avoid surgery altogether.  IN recent years, new techniques have been developed to close abnormal blood vessel communications between the arteries near the heart or in the lungs.  In addition, new devices are currently being studied that permit closure of abnormal communications inside of the heart.  These devices are delivered by catheters inserted in the vein in the leg and require only an overnight stay in the hospital.

In summary, although a heart defect is not always the most severe handicap in a child with RTS, its nature and severity should be defined.  Virtually, all heart defects can be treated and the majority can be successfully corrected eithe rby surgery or non-surgical techniques.

Proceedings Site

This information is in the public domain unless otherwise indicated.  Readers are encouraged to copy and share it, but please credit The Proceedings for the 1998 International Family Conference on Rubinstein-Taybi Syndrome.

UACCDD receives major support from the Hamilton County Mental Retardation Service Levy.  Additional funding sources include: United Way and Community Chest; Maternal and Child Health Bureau and the Administration on Developmental Disabilities of the Department of Health and Human Services; other county, state, and federal agencies; foundations; and individual contributions.
The 1998 International Family Conference on Rubinstein-Taybi Syndrome is very grateful for the generous support of The Special Friends Foundation

This document was added to the Rubinstein-Taybi web site in November 2000.

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