Document Detail

Intrauterine diagnosis of heterotaxy syndrome.
MedLine Citation:
PMID:  12075255     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Heterotaxy syndrome, including right isomerism and left isomerism, is characterized by an abnormal symmetry of the viscera and veins and is frequently associated with complex cardiac anomalies. We sought to define the feasibility of in utero diagnosis and the postnatal outcome. METHODS: Patients with heterotaxy syndrome were identified from 579 fetal echocardiograms performed from January 1994 to December 1998. The diagnosis was made on the basis of the fetal echocardiographic findings and was confirmed with autopsy or postnatal evaluation. RESULTS: A total of 25 fetuses with right isomerism and 4 with left isomerism constitute the study population. The pregnancies of 7 fetuses (6 right and 1 left isomerism) were terminated before the 24th gestational week and subjected to autopsy. Twelve fetuses (10 right and 2 left isomerism) were lost to follow-up. Nine with right isomerism and 1 with left isomerism were delivered and underwent palliation. Among them, 5 patients (56%) with right isomerism died and more than half of the deaths occurred during infancy. The major cardiac anomalies detected and confirmed with postnatal evaluation or autopsy in fetuses with right isomerism were total anomalous pulmonary venous connection (6/15; 40%), common atrium (15/15; 100%), complete atrioventricular canal (15/15; 100%), double outlet right ventricle (15/15; 100%), and pulmonary stenosis (11/15; 73%). The major cardiac anomalies in fetuses with left isomerism were interruption of inferior vena cava (2/2; 100%), common atrium (1/2; 50%), and complete atrioventricular canal (1/2; 50%). Undetected lesions with fetal echocardiogram were abnormal pulmonary venous return to systemic veins in 1 case (sensitivity, 83%; 5/6; and specificity, 90%; 9/10) and outflow obstruction in 1 case (sensitivity, 91%; 11/12; and specificity, 67%; 2/3). Different patterns of rhythm disturbances were identified: supraventricular tachycardia in 1 case with right isomerism and sinus bradycardia with junctional rhythm in 3 cases with left isomerism (2 of them lost to follow-up). After birth, another 2 patients with right isomerism had supraventricular tachycardia, and 1 with left isomerism had sinus bradycardia develop at age 2 years. CONCLUSION: Heterotaxy syndrome is usually detected in fetuses with the sonographic cardiac abnormalities. Visualization of the pulmonary venous return and outflow obstruction and characterization of the rhythm disturbances are feasible. However, in spite of prenatal diagnosis, the prognosis remains poor.
Jiuann-Huey Lin; Chang-I Chang; Jou-Kou Wang; Mei-Hwan Wu; Ming-Kwang Shyu; Chien-Nan Lee; Hung-Chi Lue; Fon-Chiou Hsieh
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American heart journal     Volume:  143     ISSN:  1097-6744     ISO Abbreviation:  Am. Heart J.     Publication Date:  2002 Jun 
Date Detail:
Created Date:  2002-06-20     Completed Date:  2002-07-18     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0370465     Medline TA:  Am Heart J     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1002-8     Citation Subset:  AIM; IM    
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
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MeSH Terms
Abnormalities, Multiple / mortality,  pathology,  ultrasonography
Arrhythmias, Cardiac / ultrasonography
Feasibility Studies
Heart Defects, Congenital / mortality,  pathology,  ultrasonography*
Pulmonary Veins / abnormalities
Ultrasonography, Prenatal*
Vena Cava, Inferior / abnormalities

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