Síndrome de heterotaxia: hallazgos tomográficos / Heterotaxy syndrome: tomographic findings

Resumen El objetivo de este trabajo es caracterizar los aspectos tomográficos relevantes en el síndrome de heterotaxia, mediante cuatro pacientes que ejemplifican los hallazgos más frecuentes en esta patología. Situs solitus es la disposición habitual de los órganos y vasos sanguíneos y situs inversus se refiere a la imagen en espejo del situs solitus. Cuando la disposición de los órganos es indeterminada e impredecible y no se corresponde con el situs solitus ni el situs inversus, estamos frente al situs ambiguus o síndrome de heterotaxia, espectro de anomalías poco frecuente en las relaciones de los órganos toracoabdominales. Puede acompañarse de isomerismo derecho o isomerismo izquierdo. Clasificarlo en dos subgrupos es habitualmente difícil, ya que ninguno de estos tiene hallazgos únicos y patognomónicos, sino que existe amplia superposición. Ambos son de mal pronóstico, en los casos de isomerismo izquierdo un 5-10% llegan a la edad adulta, siendo de peor pronóstico los casos de isomerismo derecho, debido a que presentan inmunodepresión secundaria a la asplenia y cardiopatías congénitas más severas. Se debe analizar cada caso de forma individualizada y detallada para establecer el diagnóstico, determinar la asociación lesional y establecer aquellos pacientes que presenten mayor riesgo de complicaciones.

Abstract The objective of this brief communication is to characterize the relevant tomographic aspects in the heterotaxy syndrome, by means of 4 patients that exemplify the most frequent findings in this pathology. Situs solitus is the usual arrangement of organs and blood vessels and situs inversus refers to the mirror image of situs solitus. When the arrangement of the organs is indeterminate and unpredictable and does not correspond to situs solitus or the situs inversus, we are facing the situs ambiguus or heterotaxy syndrome, abnormal spectrum of anomalies in the relations of the thoracoabdominal organs. It may be accompanied by right isomerism or left isomerism. Attempts to classify it into two subgroups are usually difficult since none of these has unique and pathognomonic findings, but rather there is broad overlap. Both are of poor prognosis, in the cases of left isomerism 5-10% reach adulthood, with a worse prognosis being the cases of right isomerism due to the fact that they have immunodepression secondary to asplenia and more severe congenital cardiopathies. Each case should be analyzed in an individualized and detailed manner to establish the diagnosis, determine the lesional association and establish those patients that present a higher risk of complications.

Percutaneous Transluminal Angioplasty for Low Cardiac Output Syndrome due to Superior vena cava Stenosis with Venous Return Anomaly, after Open Heart Surgery for Pacemaker Lead-Induced Endocarditis / 日本心臓血管外科学会雑誌

We report a case of percutaneous transluminal angioplasty (PTA) treatment for low cardiac output syndrome due to superior vena cava (SVC) stenosis with venous return anomaly. A 69-year-old man was referred to our hospital for surgical treatment of tricuspid valve infective endocarditis due to infected pacemaker leads, which had been implanted for sick sinus syndrome. Preoperative computed tomography indicated polysplenia syndrome-related absence of the hepatic segment of the inferior vena cava (IVC). Preoperative coronary angiography showed a 99% stenosis in the left anterior descending artery and a total occlusion in the right coronary artery. We therefore performed pacemaker system removal, tricuspid valve plasty, coronary artery bypass surgery, and a new pacemaker implantation (epicardial leads). However, over the postoperative course we noted low cardiac output syndrome due to SVC syndrome, which appeared to be aggravated by venous return anomaly from the patient's absent IVC hepatic segment. Eight days after the surgery we conducted PTA for SVC syndrome, which notably improved the patient's hemodynamics. The patient recovered and was transferred to a rehabilitation facility 34 days after the surgery.

Diagnosis of vena cava connection in patients with polysplenia syndrome by echocardiography / 中华超声影像学杂志

Objective To explore the characteristics of vena cava and pulmonary vena connection in patients with polysplenia syndrome ,and to improve the diagnosis of the polysplenia syndrome by echocardiography .Methods Forty‐five patients with polysplenia syndrome diagnosed by echocardiography were reviewed retrospectively .The characteristics and the frequency of the various types of anomalous connection of vena cava and pulmonary vena were analyzed .Results In 45 patients with polysplenia ,27 cases (60% ) had anomalous connection of superior vena cava ,anomalous inferior vena cava was found in 24 cases (53 3.% ) ,while 22 cases (48 8.% ) were diagnosed with hepatic vein anomalous drainage .Nineteen patients (42 2.% ) had anomalous pulmonary venous ,which partially anomalous venous drainage in 4 (8 9.% ) and total anomalous pulmonary venous drainage occurred in 15 patients (33 3.% ) .Conclusions Polysplenia syndrome often accompanied with anomalous vena cava and pulmonary venous drainage .Echocardiography can effectively diagnose polysplenia syndrome .

An Incidental Finding of Polysplenia Syndrome in a Geriatric Patient: A Case Report.

Polysplenia syndrome is a rare congenital disease characterized by presence of two or more spleens and affection of other asymmetric organs. It is often recognized in childhood and rarely in adulthood. Here we report a case of polysplenia syndrome in an elderly female having multiple accessory spleens, stomach and aorta on right side of abdomen and liver, gallbladder, inferior vena cava and common bile duct on left side of abdomen. She was also having congestive cardiac failure with atrial fibrillation and lumbar vertebra collapse.

Incidentally Detected Situs Ambiguous in Adults

Situs ambiguous is rare congenital anomaly in adults. In 2 adult patients who admitted for different cardiac problems, situs ambiguous with polysplenia was detected. A 42-year-old male admitted for radio frequent catheter ablation of atrial fibrillation, and he had left-sided inferior vena cava (IVC), hepatic segment of IVC interruption with hemiazygos continuation, multiple spleens and intestinal malrotation. And in a 52-year-old female case who was hospitalized due to infective endocarditis after implanting pacemaker for sick sinus syndrome, multiple spleens, left-sided stomach, bilateral liver with midline gallbladder, and left-sided IVC were found. Those findings were consistent with situs ambiguous with polysplenia, but their features were distinctive.

Hemiazygos Continuation of Left Inferior Vena Cava Draining into the Right Atrium via Persistent Left Superior Vena Cava: A Variant of Polysplenia Syndrome Mimicking Aortic Dissection

We report a case of a 58 year-old male with polysplenia and left inferior vena cava draining into the right atrium via hemiazygous vein; the left superior vena cava and the coronary sinus in order. He presented dyspnea on exertion and atrial fibrillation. Originally, through findings of mediastinal widening in chest X-ray and the double lumen of the descending aorta in transesophageal echocardiography, he was erroneously diagnosed with aortic dissection. The anomalous venous connection was discovered via spiral CT and venography. We also found three to five small spleens via CT. We emphasize that normal left superior vena cava mimic aortic dissection on chest X-rays and transesophageal echocardiographys.