Background
Heterotaxy syndrome is a rare defect that involves the heart and other organs. It is a disorder that results in certain organs forming on the opposite side of the body. The incidence of typical forms is 2,5/100 000 births. Heterotaxy coming from greek word “heteros” meaning different and “taxis” meaning arrangement. These malformations are always associated with additional cardiac lesions such as univentricular heart (UV). The Fontan operation was introduced in 1968 and has become the definitive treatment for suitable patients with UV.
Case description
A 28-year-old man with heterotaxy syndrome, dextrocardia, transposition of the great arteries, double inlet left ventricle (hypoplastic right ventricle), pulmonary artery stenosis, an additional superior vena cava was admitted to hospital. At 2 years of age surgical correction was performed which included lateral tunnel Fontan operation on the left side (intra-atrial tunnel connecting vena cava inferior with pulmonary artery) and bidirectional Glenn procedure on the right side. At 18 years of age cardiac catheterization was performed, which revealed narrowing of the connection between inferior vena cava and intracardiac tunnel with pressure gradient 8 mmHg. In addition, chronic hepatitis B and mutation in blood coagulation factor V Leiden were found. Anticoagulation was instituted. The patient was qualified for reoperation but due to forthcoming secondary school final exam the procedure did not take place. The patient remained asymptomatic. He has been leading a very active lifestyle travelling extensively. He graduated in philosophy at the Jagiellonian University and completed a PhD in the field of philosophy. The patient was hospitalized because of loss of consciousness at the University Hospital in Leuven during the last scholarship in Belgium. An arrhythmia was considered as a cause of loss of consciousness. CT scanning found narrowing of the tunnel between vena cava inferior and pulmonary artery. The patient was referred to Poland with recommendation of invasive diagnostic procedures. On admission the patient’s general condition was good. Physical examination revealed central cyanosis, slight enlargement of the liver. Laboratory studies have found polycythemia, therapeutic INR, normal protein levels and liver function tests. The abdominal ultrasound showed situs inversus, abnormal liver with irregular contours, various echogenicity and reduced vascularity. The spleen was not visualized. Holter monitoring revealed numerous premature ventricular and supraventricular beats. The cardiopulmonary exercise test showed good exercise tolerance and maximal oxygen consumption was 26 ml/kg/min. The oxygen saturation of arterial blood during exercise decreased from 86% at rest to 72% at peak exercise. Exercise tolerance has been stable for three years. Neither carotid ultrasound nor tilt table test showed any abnormalities. Changes typical of pulmonary embolism were not observed in a ventilation/perfusion lung scan. An old stroke lesion in the left parietal lobe of the brain was found in the CT. MR imaging found occlusion of the tunnel between vena cava inferior and pulmonary artery. Two azygos veins joining into the superior vena cava were visualized. Beta blocker and anticoagulation treatment was instituted. Routine checkup was performed at 3 months. The patient remained asymptomatic. Holter monitoring showed decrease in the number of premature ventricular beats.
Guidelines
After the Fontan operation, the majority of patients do well during childhood and dolescence, although exercise capacity is reduced when measured objectively. Comprehensive assessment is mandatory for patients with manifestations of the ‘failing Fontan’ complex, with particular care to exclude even minor obstructions to cavopulmonary flow and pulmonary venous return which may have a major haemodynamic impact.
Heart transplantation and heart–lung transplantation should be considered when there is no conventional surgical option in patients with poor clinical status IIa C.
References
1. ESC Guidelines for the management of grown-up congenital heart disease. European Heart Journal (2010) 31, 2915–2957
2. Jacobs J. P., Anderson R. H., Weinberg P. M. et all The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy.
Experts’ comments:
1. Janusz Skalski, MD, PhD: This asymptomatic patient with occlusion of the vena cava inferior – pulmonary artery tunnel and well developed collateral circulation through the azygos vein is not eligible for cardiac surgery.
2. Jacek Kołcz, MD, PhD: This is a patient after well-constructed Fontan circulation. Despite the obstruction of the lateral tunnel between left IVC and pulmonary arteries exercise tolerance remains appropriate for this physiology. This is because of the left IVC azygous continuation to the pulmonary vascular bed. At present there is no indication for reoperation. Anticoagulation protocol should be adjusted taking into consideration patient’s specific coagulation disturbances.
3. Olga Trojnarska MD, PhD: Surgical repair in asymptomatic patients with such complex postoperative anatomical anomaly poses a great risk. In the presence of well-developed circulation via azygos vein I recommend conservative treatment.
4. Tomasz Miszalski MD, PhD:MR imaging shows occlusion of the tunnel between vena cava inferior and pulmonary artery. Two azygos veins go into the superior vena cava.
5. Grzegorz Kopeć MD, PhD. Comprehensive hemodynamic assessment is mandatory for patients with manifestations of the failing Fontan complex, with particular care to exclude even minor obstructions to cavopulmonary flow and pulmonary venous return which may have a major haemodynamic impact.
Conclusions:
The patient was qualified for observation and pharmacological treatment.
Authors:
Tomkiewicz-Pająk L.1, Miszalski-Jamka T.2, Krupiński M.2, Banyś P.2, Olszowska M.1, Podolec M.5, Drabik L.1, Podolec P.1
Experts:
Janusz Skalski J.3, Jacek Kołcz J.3, Trojnarska O.4, Kopeć G.1, Miszalski- Jamka T.2
1 Department of Cardiac and Vascular Diseases, Jagiellonian University College of Medicine, John Paul II Hospital, Krakow, Poland
2 Center for Diagnosis, Prevention and Telemedicine, John Paul II Hospital, Krakow, Poland
3 Department of Pediatric Cardiac Surgery, Polish-American Children’s Hospital, Jagiellonian University, Krakow, Poland
4 1st Department of Cardiology, Poznan University of Medical Sciences, Poznan, Poland
5 Department of Coronary Artery Disease, John Paul II Hospital, Krakow, Poland
