Dextrocardia in patients with Poland syndrome: Phenotypic characterization provides insight into the pathogenesis

Torre, Michele; Baban, Anwar; Buluggiu, Anna; Costanzo, Sara; Bricco, Lara; Lerone, Margherita; Bianca, Sebastiano; Gatti, Gian Luca; Sénès, Filippo Maria; Valle, Maura; Calevo, Maria Grazia

doi:10.1016/j.jtcvs.2009.08.024

« Previous Next »The Journal of Thoracic and Cardiovascular Surgery
Volume 139, Issue 5 , Pages 1177-1182, May 2010

Dextrocardia in patients with Poland syndrome: Phenotypic characterization provides insight into the pathogenesis

Michele Torre, MD
- Pediatric Surgery Department, Gaslini Children Hospital, Genova, Italy
- M. Torre and A. Baban contributed equally to this work.
- Address for reprints: Michele Torre, MD, Pediatric Surgery Department, Gaslini Children Hospital, Largo G. Gaslini 5, 16148 Genova-Italy.
Anwar Baban, MD
- Laboratory of Molecular Genetics, Gaslini Children Hospital, Genova, Italy
- Cardiovascular Department, Gaslini Children Hospital, Genova, Italy
- M. Torre and A. Baban contributed equally to this work.
Anna Buluggiu, MD
- Pediatric Surgery Department, Gaslini Children Hospital, Genova, Italy
Sara Costanzo
- Pediatric Surgery Department, Gaslini Children Hospital, Genova, Italy
Lara Bricco, MD
- Laboratory of Molecular Genetics, Gaslini Children Hospital, Genova, Italy
Margherita Lerone, MD
- Laboratory of Molecular Genetics, Gaslini Children Hospital, Genova, Italy
Sebastiano Bianca, MD
- Reproductive Genetic Counselling and Teratology Center, Maternal and Infant Department, ARNAS Garibaldi Nesima, Catania, Italy
Gian Luca Gatti, MD
- Plastic and Reconstructive Surgery and Burn Centre Unit, Hospital of Pisa, Pisa, Italy
Filippo Maria Sénès, MD
- Hand Surgery and Microsurgery Unit, Gaslini Children Hospital, Genova, Italy
Maura Valle, MD
- Radiology Unit, Gaslini Children Hospital, Genova, Italy
Maria Grazia Calevo, PhD
- Epidemiology and Biostatistics Service, Scientific Direction, Gaslini Children Hospital, Genova, Italy

Received 31 March 2009; received in revised form 19 July 2009; accepted 10 August 2009. published online 12 November 2009.

Objective

Poland syndrome is a rare congenital anomaly characterized by complete or partial agenesis of the pectoralis major muscle variably associated with other thoracic malformations, upper limb malformations, or both. More than 20 patients with dextrocardia and left-sided Poland syndrome have been previously described. The association between these 2 rare anomalies suggests a causal relationship, but the etiopathogenetic mechanism has not been clarified yet. We studied the clinical correlation between these 2 anomalies, and we tried to elucidate whether dextrocardia or Poland syndrome comes first.

Methods

This is a multicentric multidisciplinary study conducted over the last 5 years. We identified 122 patients with Poland syndrome, and we investigated heart position through different imaging techniques. Logistic regression statistical analyses were carried out.

Results

We observed dextrocardia in 14 (11.5%) patients, which was never associated with situs inversus. All of them presented with left-sided Poland syndrome and partial agenesis of 2 or more ribs. Conversely, all patients with Poland syndrome with partial agenesis of 2 or more ribs presented with dextrocardia, whereas dextrocardia was never associated with partial agenesis of a single rib. Three patients with dextrocardia presented with simple congenital heart defects.

Conclusions

These findings suggest that mechanical factors during embryonic life could explain the strong association between left-sided Poland syndrome and dextrocardia. According to this hypothesis, partial agenesis of 2 or more ribs is needed to displace the heart toward the right side. The peculiar features of dextrocardia when associated with Poland syndrome (neither associated with situs inversus nor complex intracardiac anomalies) support our hypothesis.

CTSNet classification: 5, 18, 20, 21

Abbreviations and Acronyms: CI, confidence interval, OR, odds ratio, RH, rib hypoplasia, PRA, partial rib agenesis, PS, Poland syndrome