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Redefining the Approach to Heterotaxy: An Algorithm Based On 393 Patients

Saturday, October 20, 2012: 10:00 AM
Room 275-277 (Morial Convention Center)
James R. Pierce1, Jason P. Tovar, MD2, Stephanie Papillon, MD3, Catherine Hunter4, Daniel Levin, MD1, Catherine J. Goodhue, CPNP3, Shalini S. Sharma, MD, MPH5, Winfield Wells6, Richard Kim, MD3, S. Ram Kumar, MD, PHD3, Linda Randolph, MD7, Shazia Bhombal8, Henri R. Ford, MD, MHA3, Jeffrey S. Upperman, M.D.4, Kasper Wang4, Roberta Williams, MD9 and Gerald Bushman, MD3, (1)Division of Pediatric Surgery, Children's Hospital Los Angeles, Los Angeles, CA, (2)Pathology, Children's Hospital Los Angeles, Los Angeles, CA, (3)Pediatric Surgery, Children's Hospital Los Angeles, Los Angeles, CA, (4)Surgery, Children's Hospital Los Angeles, Los Angeles, CA, (5)Anesthesia, Los Angeles County Hospital, USC+Keck School of Medicine, Los Angeles, CA, (6)Pediatric Surgery, Childrens Hospital Los Angeles, Los Angeles, CA, (7)Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, (8)Center for Fetal and Neonatal Medicine, Division of Neonatal Medicine, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, (9)Cardiology, Children's Hospital Los Angeles, Los Angeles, CA

Purpose: Patients with a diagnosis of heterotaxy engender concern for the clinicians who care for them because they seem to “do worse.” It is increasingly recognized that heterotaxy includes a wide spectrum of abnormalities in the arrangement of thoracoabdominal organs beyond simple isomerism that makes it hard to define as a syndrome. We sought to identify groups of patients who should be suspected as having heterotaxy, define their workup, and determine the morbidities and mortality risk for these patients. We hypothesize that heterotaxy should be viewed as a complex and not a syndrome.

 Methods:  A search for of MEDLINE, the National Library of Medicine Medical Subject Headings, and International Pediatric and Congenital Cardiac Code was performed for heterotaxy, disorders of organ situs and abdominal rotation, and disorders of ciliary dysfunction for both hepatobiliary and pulmonary diseases. After IRB approval, medical records between July 2003 and July 2011 at our institute were queried for patients with these diagnoses. Data collected included demographics, cardiovascular and noncardiac diagnoses, imaging and surgical/autopsy appearance of thoracoabdominal organs, and overall mortality.

Results: 224 patients presented with congenital heart disease (CHD) and were confirmed as having heterotaxy. 19 patients presenting with CHD without heterotaxy were found to have malrotation. 61 patients were identified with malrotation without mechanical cause or chromosomal abnormality. 78 patients presented with biliary atresia. 11 patients were identified as having a primary ciliary dyskinesia. Associations between presentation and organ findings are shown in the table. Overall mortality was 83.7%.

Conclusion: Although the classic description of heterotaxy syndrome relies upon the presence of isomerism, it is now clear that significant deviation from the usual visceral asymmetry can occur without bilateral sidedness. Our data supports a non-random relationship between solid and hollow organ situs and CHD. Multiple correlations are the hallmark of a disease complex: we believe that heterotaxy should be considered a complex including a situs abnormality and a dysfunctional organ rather than a syndrome of bilateral sidedness. We therefore we recommend these patients undergo a careful history, physical examination, chest x-ray, peripheral blood smear, echocardiogram, and abdominal ultrasound. We also indicate potential non-cardiac morbidities in this group of patients. Further study will clarify the requirements for inclusion into heterotaxy complex.

Presentation

Number Identified

Classic Heterotaxy Cardiac Lesion

Atypical

Heterotaxy

Cardiac Lesion

Non-

Heterotaxy

Cardiac

Lesion

Dextrocardia

Malrotation

Splenic Situs Abnormality

Howell-

Jolly

Bodies

Biliary

Atresia

CHD,

heterotaxy type

224

134

90

0

68

49

79

39

2

CHD then Malrotation

19

0

0

18

4

19

12

4

0

Malrotation

61

0

0

12

0

61

7

2

1

Biliary Atresia

78

0

1

1

2

1

1

0

78

Ciliary Dyskinesia

11

1

0

1

2

3

1

0

0