Ivemark syndrome-a rare entity with specific anatomical features.

Ivemark syndrome (IS) is a rare embryological disorder which results from failure of development of the left-right asymmetry of organs. It is often associated with cardiac and other organ abnormalities, which are the usual causes of death in early neonatal life. We report a 3 months old girl with IS with dextrocardia, transposition of the great vessels, atrio-ventricular connection, total anomalous pulmonary venous drainage, a right atrial and right pulmonary isomerism, a midline liver, a midline gallbladder, asplenia, intestinal malrotation and vena cava anomalies. To our knowledge, complete right heterotaxia syndrome has been rarely described in literature. Lateralization defects such as situs inversus, asplenia or polysplenia due to defective left-right axis development are considered as defects of the primary developmental field. Therefore, additional malformations in IS can be synchronic defects in the primary developmental field rather than causally independent malformations.

Echocardiography and imaging investigation in congenital cardiovascular anomalies - competition or complementarity? Part II: cyanogenic cardiovascular malformations. Pictorial essay.

The diagnosis of cardiovascular malformations (CVM) is based on the echocardiographic evaluation. Multidetector computed tomography (MDCT) and magnetic resonance imaging (MRI) are performant, necessary techniques for the pre- and postoperative assessment of complex malformations, especially of cyanogenic malformations, in which anomalies of the right side of the heart and of the pulmonary circulation are involved and where echocardiography has a limited role. The complementarity of echocardiography with MDCT and MRI for the acquisition of the details necessary for an accurate therapeutic decision and for avoiding invasive exploration, as well as the close relationship between the radiologist and the clinician are crucial and all the more necessary in complex malformations.

Echocardiography and imaging investigation in congenital cardio-vascular anomalies - competition or complementarity? Part I: non-cyanogenic cardiovascular malformations.

Echocardiography is the first technique used for diagnosing cardiovascular malformations (CVM). The results are often completed with multi-detector computer tomography (MDCT) and/or magnetic resonance imaging (MRI) for confirming/ invalidating an abnormal pulmonary venous return in the case of atrial septal defect (ASD) or for the exact interpretation of cardiac function in pre/post-surgery cases with ASD, ventricular septal defect (VSD), and Fallot tetralogy. MDCT and MRI play an important role in the precise and complete diagnosis of Fallot tetralogy, in the anomalies of the right heart cavities and the arterial and venous pulmonary tree, the anomalies of the emergence and course of the coronary arteries, aortic coarctation and developmental anomalies of the aortic arch and supraaortic trunks. The complementarity of echocardiography with MDCT and MRI, in order to obtain details and to avoid invasive procedures and also the cooperation between the pediatrician, cardiologist, surgeon and radiologist, represent the key to the diagnosis and treatment of cardiovascular malformations, for the benefit of the patient.

Ivemark syndrome-a rare entity with specific anatomical features / Síndrome de Ivermark. Informe de un caso

Ivemark syndrome (IS) is a rare embryological disorder which results from failure of development of the left-right asymmetry of organs. It is often associated with cardiac and other organ abnormalities, which are the usual causes of death in early neonatal life. We report a 3 months old girl with IS with dextrocardia, transposition of the great vessels, atrio-ventricular connection, total anomalous pulmonary venous drainage, a right atrial and right pulmonary isomerism, a midline liver, a midline gallbladder, asplenia, intestinal malrotation and vena cava anomalies. To our knowledge, complete right heterotaxia syndrome has been rarely described in literature. Lateralization defects such as situs inversus, asplenia or polysplenia due to defective left-right axis development are considered as defects of the primary developmental field. Therefore, additional malformations in IS can be synchronic defects in the primary developmental field rather than causally independent malformations.

El síndrome de Ivermark es un desorden embriológico raro resultante de una falla en el desarrollo de la asimetría izquierda y derecha de los órganos. Usualmente se asocia con anomalías cardíacas y de otros órganos, que son la causa usual de muerte en la vida neonatal. Presentamos una niña de 3 meses con dextrocardia, trasposición de los grandes vasos, comunicación aurículo-ventricular, drenaje anómalo total de la vena pulmonar, isomerismo de la aurícula y pulmón derecho, hígado y vesícula en la línea media, asplenia, malrotación intestinal y anomalías de la vena cava. Una heterotaxia derecha completa ha sido raramente descrita en la literatura. Los defectos de lateralización como situs inverso, asplenia o poli esplenia causados por defectos en el desarrollo izquierda derecha son considerados como defectos del campo de desarrollo primario. Por lo tanto, las manifestaciones adicionales del síndrome de Ivemark pueden ser defectos sincrónicos del campo de desarrollo primario más que malformaciones causalmente independientes.