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Background: Recent progress in surgical and intensive care has improved the prognosis of congenital heart disease (CHD) associated with heterotaxy syndrome. Less is known, however, about pulmonary vascular complications in these patients.
Methods and Results: We reviewed medical records of 236 patients who were diagnosed with polysplenia syndrome a...
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Context 1
... 38 patients with incomplete AVSD were recruited: 16 patients with polysplenia (the polysplenia group), and 22 patients without polysplenia (the control group). Medical charts, cardiac catheterization data and other associated clinical findings were reviewed retrospectively to obtain the detailed state, treatment and outcomes of PH. age at evaluation (>7 months) and high Qp/Qs (>2.0) were not significantly associated with the development of PH in patients with incomplete AVSD ( Table 4). ...Context 2
... 38 patients with incomplete AVSD were recruited: 16 patients with polysplenia (the polysplenia group), and 22 patients without polysplenia (the control group). Medical charts, cardiac catheterization data and other associated clinical findings were reviewed retrospectively to obtain the detailed state, treatment and outcomes of PH. age at evaluation (>7 months) and high Qp/Qs (>2.0) were not significantly associated with the development of PH in patients with incomplete AVSD ( Table 4). ...Similar publications
The aim of the study was to identify and correlate the anatomical variants of cardiac structures among patients with heterotaxy. In this retrospective cross-sectional analysis of 13 years duration, 302 patients of congenital heart diseases associated with heterotaxy were studied. All these patients had undergone a meticulous clinical evaluation, ec...
Citations
... We found the heart to be enlarged, having a round form, primarily due to a dilated common atrium and a hypertrophic and dilated left ventricle situated more anterior, in contrast with a hypoplastic right ventricle situated more posterior. After dissecting the heart, we discovered a complete atrioventricular canal defect, which is more common in right-sided isomerism or asplenia [9][10][11]. This heart defect is also associated with polysplenia syndrome [9,[12][13][14][15][16]. ...
... This was mainly due to a persistence of the left anterior cardinal vein and the lack of formation of the left brachiocephalic vein [2]. Most medical studies described inferior vena cava abnormalities associated with polysplenia [9,10,18,19]; however, Moller et al. found six cases describing bilateral vena cava within the polysplenia syndrome [15]. ...
... In situ examination of the lungs revealed that each lung was bilobar (Table 1), suggesting a bilateral left-sideness of the pulmonary system commonly described in the medical literature [15]. Trilobation of the lungs was also described in association with left atrial isomerism [10]. ...
Polysplenia syndrome represents a type of left atrial isomerism characterized by multiple small spleens, often associated with cardiac malformations and with situs ambiguus of the abdominal organs. The case presented is of a one-month-old male infant, weighing approximately 3000 g, born at the County Clinical Emergency Hospital of Sibiu, who was hospitalized from birth until death. The patient suffered cardio-respiratory arrest due to severe hypoxia and septicemia on the background of a series of complex cardiac malformations associated with congenital abdominal organ anomalies. Examination of the body revealed a common atrium with complete atrioventricular canal defect, left ventricular hypertrophy, right ventricle hypoplasia, truncus arteriosus, superior vena cava duplication, bilobation of the lungs, situs ambiguous of the abdominal organs with right-sided stomach, a midline liver, gall bladder agenesis, multiple right-sided spleens and complete inversion of the intestines and pancreas. Histopathology concluded that the patient suffered cardiac lesions consistent with infantile lactic acidosis, as well as pulmonary modifications suggesting congenital alveolar dysplasia and altered hepatic architecture compatible with fibrosis.
... Although biventricular repair is possible in many cases compared with right isomerism cases, the prognosis is poor in cases of hypoplastic left heart and severe pulmonary hypertension [6]. We have reported that incomplete atrioventricular septal defect, which does not usually cause pulmonary hypertension in childhood, combined with polysplenia syndrome is an independent risk factor for the development of pulmonary hypertension, regardless of the age at the time of evaluation or the degree of left-right shunt [8]. The reason for this is speculative, but it may be that both sides of the lungs are left-sided, resulting in a smaller volume and fewer pulmonary vascular beds, and/or that the genetic abnormality that causes the polysplenia may also be involved in the development of pulmonary hypertension. ...
Congenital heart diseases (CHD) result from abnormal development of the cardiovascular system and usually involve defects in specific steps or structural components of the developing heart and vessels. The determination of left–right patterning of our body proceeds by the steps involving the leftward “nodal flow” by motile cilia in the node and molecules that are expressed only on the left side of the embryo, eventually activating the molecular pathway for the left-side specific morphogenesis. Disruption of any of these steps may result in left–right patterning defects or heterotaxy syndrome. As for the outflow tract development, neural crest cells migrate into the cardiac outflow tract and contribute to form the septum of the outflow tract that divides the embryonic single truncus arteriosus into the aortic and the pulmonary trunk. Reciprocal signaling between neural crest cells and another population of myocardial precursor cells originated from the second heart field are essential for the steps of outflow tract development. To better understand the etiology of CHD, it is important to consider what kind of CHD is caused by abnormalities in each step during the complex development of the cardiovascular system.
... In this case, anatomical heart variations consist of absent drainage of the IVC in the right atrium and direct drainage of the hepatic veins instead, and the presence of a possible ASD. These findings would explain the edema of the lower limbs and the pulmonary hypertension, that has been recently associated with polysplenia [15]. Patients with left isomerism have a mortality higher than 50% during their first years of life, thus it is surprising that the syndrome was diagnosed in our patient at 59 years old. ...
Heterotaxy syndrome with polysplenia is an extremely rare congenital disorder caused by a disruption in the embryonic development that results in an abnormal arrangement of the abdominal and thoracic organs. We present the case of a 59-year-old female patient with invasive ductal carcinoma of the right breast (luminal A type) and CT findings of heterotaxy syndrome with polysplenia. The most remarkable anomalies identified were a left inferior vena cava draining into the hemiazygos vein, absent inferior vena cava at the thoracic level, and hepatic veins directly draining into the right atrium. Moreover, an atrial septal defect was identified, explaining the pulmonary hypertension of unknown cause previously detected in the patient. The relevance of this case lies in the unusual anatomical abnormalities found and the large patient survival, having in to account the great rate of heterotaxy syndrome mortality in the first years of life.
... Cardiac transplantation presents additional challenges: in addition to the inherent anatomic challenges, patients with heterotaxy may have increased risk for pulmonary hypertension, further decreasing their ability to be considered for cardiac transplantation. 24 In general, when patients with heterotaxy do undergo cardiac transplantation, they have significantly increased morbidity and mortality compared with their peers. 25 ...
Heterotaxy is a generalized term for patients who have an abnormality of laterality that cannot be described as situs inversus. Infants with heterotaxy can have significant anatomic and medical complexity and require personalized, specialized care, including comprehensive anatomic assessment. Common and rare anatomic findings are reviewed by system to help guide a thorough phenotypic evaluation. General care guidelines and considerations unique to this patient population are included. Future directions for this unique patient population, particularly in light of improved neonatal survival, are discussed.
Left isomerism is frequently associated with anomalous systemic venous connection and common atrium, requiring systemic venous abnormality correction and common-atrium septation in biventricular repair. Our case was a 4-year-old girl diagnosed with left isomerism, dextrocardia, complete atrioventricular septal defect, common atrium, bilateral superior vena cava, and interruption of the inferior vena cava with hemiazygos vein connection. She underwent intracardiac repair with intra-atrial rerouting. Preoperative computed tomography suggested that extracardiac reconstruction of the anomalous systemic vein was inappropriate, and showed that all the pulmonary veins drain to the common chamber in the common atrium. Thus, the blood flow from the right superior vena cava was diverted into the left side of the common atrium through an intra-atrial tunnel. Complete atrioventricular septal defect was repaired with modified one-patch method, and the patch divided the common atrium into the right and left atria. She was discharged on postoperative day 11 without obstruction in systemic and pulmonary venous return. Therefore, if all the pulmonary veins drain to the common chamber, intra-atrial rerouting may effectively correct anomalous systemic venous connection in the septation of the common atrium.
