Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome
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Thoraco-abdominal viscera have unique morphological asymmetry, unlike the body’s external organs. Heterotaxy syndrome is a disorder in which there is a loss of normal left to right asymmetry of thoraco-abdominal viscera and their naturally proscribed spatial relationship. It has multiple anatomical alterations, culminating into physiological and hemodynamic consequences. It is divided into two groups on the basis of morphology of the two atrial appendages. These subgroups are - 1) Isomerism of right atrial appendage (asplenia syndrome); 2) Isomerism of left atrial appendage (polysplenia syndrome); Patients from group I, usually have severe cardiac malformations and present early. They may have duct dependent lesions and eventually may undergo Fontan surgery. However, extracardiac anomalies are more common in group II. All the patients must be evaluated in detail to rule out anomalies like gut-malrotation. Patients must be provided with special care for their susceptibility to infection due to absence of spleen or presence of splenic malfunction. Majority of these patients may have genetic link and may present in families. Hence, genetic evaluation is necessary before assuming long term outcome.
KeywordsHeterotaxy syndrome Isomerism of atrial appendage Asplenia Polysplenia Ivemark syndrome Situs ambiguous AVSD
Isomerism of Right Atrial Appendage
Isomerism of Left Atrial Appendage
Congenital Heart Disease
The author is grateful to Dr. Rajesh Sharma, Director, HOD, Pediatric Cardiac Surgery, Jaypee Hospital, Sector 128, Noida, who permitted her to analyze his patients during the preparation of the manuscript; Dr. CPS Chauhan, HOD, Deptt Radiology, Jaypee Hospital, Noida who allowed her to develop and retrieve CT imges; Dr. Sanjay Khatri, Sr Consultant Pediatric Cardiology, Fortis Hospital, Jaipur, Rajasthan for giving her few important images. Dr. Seema Thakur, Sr Consultant Genetics and Fetal medicine, for helping her in writing the genetics of HS in this chapter. She also want to express her gratitude to Jaypee publications to provide her permission to adopt tables and use few of the images from her chapter on same subject in a previous publication [Ref 17 (Tables 1 and 2; Figure 4b, 8a, 12]. She is thankful to Paramita Mishra for her help in editing the manuscript.
SM: Review and writing of the manuscript. Few of the images has been re-used from the author’s chapter in a book –Comprehensive Approach to Congenital Heart Diseases, Editor in Chief– Dr. IB Vijaylaxmi, Editors, Dr. PS Rao, Dr. Reema Chugh,with permission from JAYPEE Brothers, Publication house.
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