World Journal for Pediatric and Congenital Heart Surgery http://pch.sagepub.com/

Topsy-Turvy Heart: A Very Rare Congenital Rotational Heart Disease With Tracheobronchial Anomalies Ersin Erek, Alper Guzeltas, Nilufer Yalindag Ozturk, Gursu Kiyan, Fazilet Karakoc, Figen Akalin, Ender Odemis and Sinan Arsan World Journal for Pediatric and Congenital Heart Surgery 2013 4: 308 DOI: 10.1177/2150135113476718 The online version of this article can be found at: http://pch.sagepub.com/content/4/3/308

Published by: http://www.sagepublications.com

On behalf of:

World Society for Pediatric and Congential Heart Surgery

Additional services and information for World Journal for Pediatric and Congenital Heart Surgery can be found at: Email Alerts: http://pch.sagepub.com/cgi/alerts Subscriptions: http://pch.sagepub.com/subscriptions Reprints: http://www.sagepub.com/journalsReprints.nav Permissions: http://www.sagepub.com/journalsPermissions.nav

>> Version of Record - Jul 3, 2013 What is This?

Downloaded from pch.sagepub.com at UNIV ESTDL DE MARINGA on April 27, 2014

Case Report

Topsy-Turvy Heart: A Very Rare Congenital Rotational Heart Disease With Tracheobronchial Anomalies

World Journal for Pediatric and Congenital Heart Surgery 4(3) 308-311 ª The Author(s) 2013 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/2150135113476718 pch.sagepub.com

Ersin Erek, MD1, Alper Guzeltas, MD2, Nilufer Yalindag Ozturk, MD3, Gursu Kiyan, MD4, Fazilet Karakoc, MD5, Figen Akalin, MD6, Ender Odemis, MD2, and Sinan Arsan, MD7

Abstract The topsy-turvy heart is characterized by a global 90 clockwise rotation around the heart’s long axis. This rotation displaces all basal great arteries inferiorly and posteriorly, resulting in elongation and stretching of the brachiocephalic arteries and the bronchi. To date, reports of only four living cases have been published in the literature. We report here three new cases, with additional aortopulmonary window defects, and present their morphological details, clinical presentations, and our management. Keywords congenital heart disease, aortic arch, airway, bronchus, cardiac anatomy Submitted September 29, 2012; Accepted January 8, 2012.

Introduction The topsy-turvy heart is a very rare cardiac malposition characterized by 90 clockwise rotation of the entire heart with its great vessels, around its long axis as seen from the apex. The right ventricle assumes a superior spatial relationship to the left ventricle, while the great arteries are displaced inferiorly and posteriorly into the mediastinum. Brachiocephalic arteries get elongated; trachea and bronchi become stretched and elongated as well. This anomaly was first described in three children by Freedom and colleagues.1 Jaeggi et al reported two cases with prenatal diagnosis from the same parents.2 One of the pregnancies was terminated, the other baby had severe cardiorespiratory symptoms and required extensive aortic arch reconstruction with simultaneous left tracheobronchial repair.3 We report here three additional cases with their morphological details, clinical presentations, and managements.

Case Reports Our patients consisted of two females (one month and four years old) and a male (five months old). All patients were born to consanguineous parents, and the last two patients were siblings. Diagnostic studies included echocardiography, cardiac catheterization, angiography, and contrast-enhanced computerized tomography of the chest. All patients had characteristic rotational anomaly of the heart and the great vessels. Their atrial arrangements present the usual superior–inferior relationship

of the cardiac chambers. Atrioventricular and ventriculoarterial connections were concordant in the left-sided heart. Atrial and ventricular septa were intact and were positioned almost in a horizontal plane (Figure 1). Arterial outlets, together with the cardiac base, were pulled inferiorly and posteriorly toward the posterior mediastinum, close to the diaphragm, by a shortened descending aorta (Figure 2A and B). The inferior, morphologically left ventricle gave rise to a short ascending aorta, which

1 Department of Cardiovascular Surgery, Istanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey 2 Department of Pediatric Cardiology, Istanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey 3 Department of Pediatric Intensive Care, Marmara University Faculty of Medicine, Istanbul, Turkey 4 Department of Pediatric Surgery, Marmara University Faculty of Medicine, Istanbul, Turkey 5 Department of Pediatric Pulmonology, Marmara University Faculty of Medicine, Istanbul, Turkey 6 Department of Pediatric Cardiology, Marmara University Faculty of Medicine, Istanbul, Turkey 7 Department of Cardiovascular Surgery, Marmara University Faculty of Medicine, Istanbul, Turkey

Corresponding Author: Ersin Erek, Istanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital; Department of Cardiovascular Surgery, Istasyon Mah, Istanbul Cad, Bezirganbahce Mevkii 34303; Kucukcekmece, Istanbul, Turkey. Email: [email protected]

Downloaded from pch.sagepub.com at UNIV ESTDL DE MARINGA on April 27, 2014

Erek et al

309

Figure 1. Frontal plane computed tomography (CT) angiograms of the first case.

was connected with the pulmonary artery trunk, originating from the superiorly located right ventricle. A large communication between the aorta and the pulmonary artery (aortopulmonary window), several millimeters distal to the coronary ostia was present in all patients and was associated with systemic level pulmonary artery hypertension. Aortic arches were short and located at an unusually low position in the thorax. Brachiocephalic arteries were markedly elongated and positioned posteriorly. The origins of the right and left pulmonary arteries were close to the aortopulmonary window defect. As a result, aortic arches had almost a spherical appearance with the impression of giving rise to brachiocephalic and pulmonary arteries. All head vessels and subclavian arteries originated from the aortic arch separately. The trachea was elongated and right sided. Its bifurcation was located at the right side of the aortic arch. The left main bronchus was elongated and had a curvy course beneath the downwardly displaced aortic arch (Figure 3). Air trapping was already present in the upper lobe of the left lung in all patients. The first two cases had severe heart failure symptoms with respiratory distress and underwent open heart surgery (Video 1). Following anesthetic induction, flexible bronchoscopy revealed mild stenosis of the left main bronchus and malacia of the left upper lobe bronchus, explaining left upper lobe air trapping on the thorax computed tomography (CT) in case 2. Median sternotomy was performed. Aortic arch and superior and inferior vena cavae were cannulated. Pulmonary arteries were encircled and snared when cardiopulmonary bypass was started. Aortotomy was done and aortopulmonary window defects were closed using gluteraldehyde-treated autologous pericardial patch under deep hypothermia (18 C) and total circulatory arrest in case 1 and under selective antegrade cerebral perfusion in case 2. The sternum was left open in the first case due to high airway pressure, edematous and hyperinflated lungs. Although hemodynamic parameters were acceptable under moderate inotropic support in the early postoperative

period, air trapping in the left lung was prominent on the chest x-ray. The airway pressure increased progressively resulting in the left-sided pneumothorax. Tube thoracotomy was performed. Venoarterial extracorporeal membrane oxygenation (ECMO) support was initiated on the 10th postoperative day due to severe respiratory failure refractory to conventional means. After six days of ECMO support, the patient died of multiorgan failure. The second case had a labile course due to pulmonary hypertensive crises in the early postoperative period despite deep sedation, nitric oxide inhalation, and milrinone infusion. His intensive care course was also complicated by ventilatorassociated pneumonia and an episode of sepsis. As a result, he needed prolonged mechanical ventilation and his intensive care unit stay was 20 days. He was discharged from the hospital on the 30th postoperative day in good clinical condition. His control echocardiography revealed successful closure of the aortopulmonary communication with normal ventricular functions. Three months after the discharge, his pulmonary artery pressure was 30 mm Hg, obtained by continuous wave (CW) Doppler measurement of his tricuspid regurgitation. The third patient (4-year-old girl) had growth failure. Computed tomography scan showed severe stenosis of the left bronchus, but aeration of the left lung was good (Figure 3). The patient was asymptomatic. Cardiac catheterization revealed an elevated pulmonary vascular resistance (12 Wood units), and pulmonary vasoreactivity test using nitric oxide and 100% O2 inhalation was considered unresponsive. Bosentan was started and follow-up for cardiac and respiratory functions was planned. Genetic counseling of the patients is pending.

Discussion In these types of congenital abnormalities, relationships of the ventricles with their corresponding segmental connections are not normal. There are three mutually exclusive mechanisms that can produce an abnormal ventricular relationship to its segmental connection twisting, tilting, and rotation.4 Twisting, or more precisely twisting of the ventricular inlet components or crisscross heart, is the most common condition, in which cardiac chambers are arranged as if the heart were twisted clockwise (or anticlockwise) by a hand placed on the apex, causing a spiral relationship of the atriums and ventricles, with loss of the usual parallel alignment of the atrioventricular connections,5 Tilting, in contrast, produces a superior–inferior relationship of the ventricles; the parallel axes of the ventricular inlet and atrioventricular junctions are preserved as if the apex of the heart were simply lifted by a hand placed on the apex.4 Rotation describes the much rarer condition, called the topsyturvy arrangement, presented here. The essential feature is roughly 90 clockwise rotation of the entire heart with its great vessels, around its long axis as seen from the apex, without any twisting of the atrioventricular connections and ventricular tilt. The predominant feature of topsy-turvy heart is inferiorly and posteriorly located in great arterial trunks. In addition, the brachiocephalic arteries are elongated, the aortic arch presents an

Downloaded from pch.sagepub.com at UNIV ESTDL DE MARINGA on April 27, 2014

310

World Journal for Pediatric and Congenital Heart Surgery 4(3)

Figure 2. Computed tomography (CT) angiogram with three-dimensional (3D) reconstruction of the first case. A, Anterior view; B, posterior view. RV indicates right ventricle; LV, left ventricle; RA, right atrium.

Figure 3. Computed tomography (CT) image with three-dimensional (3D) reconstruction of the trachea and bronchi of the third case, showing a severe left main bronchus stenosis.

abnormally low position and finally the trachea and bronchi become elongated and stretched with a potential for significant compression of the airways.2,3 In contrast to the crisscross hearts or superoinferior ventricles that are almost always associated with major cardiac anomalies, three cases presented here, and other previously described topsy-turvy heart cases, have no associated intracardiac anomaly except a large aortopulmonary communication.

Figure 4. Aortopulmonary communication and the position of the aorta of the second case; computed tomography (CT) angiogram with three-dimensional (3D) reconstruction, lateral view. RV indicates right ventricle; LV, left ventricle; RA, right atrium; AP: aortopulmonary.

Previous reports described this communication as a wide and short patent arterial duct,2,3 but our findings are different. The location of the communication was close to the coronary ostia, and there was no vascular structure between the aorta and pulmonary trunk in any of our patients (Figure 4). Therefore, describing the communication as an aortopulmonary window is more suitable than a short and wide ductus arteriosus. Simple

Downloaded from pch.sagepub.com at UNIV ESTDL DE MARINGA on April 27, 2014

Erek et al

311

ligation was also found extremely risky in our cases; therefore, patch closure of aortopulmonary window defect under cardiopulmonary bypass was performed. The degree of the rotation of the heart in topsy-turvy hearts may differ. Case 1 had the most severe form of rotation. Great arterial access was almost impossible without elevation and rightward displacement of the heart. A timely intervention to the aortopulmonary communication in topsy-turvy hearts may result in normal cardiac conditions, like other aortopulmonary window defect, but bronchial abnormalities and potential airway compression may determine the early-/mid-/long-term results. Herrera et al described a case that underwent a surgical ligation of the patent ductus arteriosus at 20 days of age.3 Later this patient developed a progressive respiratory distress with air trapping of the left lung and required an extensive surgical procedure at 11 months of age. The procedure was a left tracheobronchial repair along with an aortic arch reconstruction using a homograft to lengthen and reposition the arch with left bronchial stenting. In our first case, severe respiratory distress and air trapping of the left lung developed acutely after the operation. Clinical condition of the patient deteriorated rapidly and did not allow us to pursue further reconstructive intervention. In the second case, no prominent obstructive airway problems were encountered during the early postoperative period and at six-month follow-up. The last case had no respiratory symptoms despite stenotic left main bronchus. Both patients are being followed for the potential airway compressive symptoms. These patients have no intracardiac anomaly except a large aortopulmonary communication, supporting the previous reports in the literature. The history of consanguinity, as previously reported,2 supports a single-gene disorder with a recessive mode of inheritance. Respiratory complications, which may be unpredictable in the postoperative period, necessitate a multidisciplinary team approach in the clinical management of these patients.

Supplemental Material Supplemental video located online at http://wjpchs.sagepub.com/ supplemental. Supplemental Video 1. Operative view of the first case, showing external anatomy of the heart and great vessels (surgeon view). Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.

References 1. Freedom RM, Culham JG, Moes CF. Angiocardiography of Congenital Heart Disease. New York, NY: Macmillan Ed; 1984: 629-642. 2. Jaeggi E, Chitayat D, Golding F, Kim P, Yoo SJ. Prenatal diagnosis of topsy-turvy heart. Cardiol Young. 2008;18(3): 337-342. 3. Herrera P, Caldarone CA, Forte V, et al.; and Airway Reconstruction Team. Topsy-Turvy heart with associated congenital tracheobronchial stenosis and airway compression requiring surgical reconstruction. Ann Thorac Surg. 2008;86(1): 282-283. 4. Anderson RH, Yoo SJ. Abnormal positions and relationship of the heart. In: Anderson RH, Baker EJ, Penny D, Redington AN, Rigby ML, eds. Pediatric Cardiology. 3rd ed. Philadelphia, Churchill Livingstone: Elsevier; 2010:991-1001. 5. Seo JW, Yoo SY, Ho SY, et al. Further morphological observations on hearts with twisted atrioventricular connections (criss-cross hearts). Cardiovasc Pathol. 1992;1: 211-217.

Downloaded from pch.sagepub.com at UNIV ESTDL DE MARINGA on April 27, 2014

Topsy-turvy heart: a very rare congenital rotational heart disease with tracheobronchial anomalies.

The topsy-turvy heart is characterized by a global 90°clockwise rotation around the heart's long axis. This rotation displaces all basal great arterie...
323KB Sizes 0 Downloads 0 Views