Anatomy of a wrong diagnosis: false Sinus Venosus Atrial Septal Defect

Abstract

In contrast with transthoracic echocardiography, transesophageal echocardiography provides a sure way to make the diagnosis of sinus venosus atrial septal defect; on the other hand this abnormality is more complex than that seen with the secundum atrial septal defect, and inexperienced operators may fail to recognize properly the defect. In front of a high reported sensitivity using transesophageal echocardiography, specificity is difficult to assess, due to possible underreporting of diagnostic errors. We describe a false positive diagnosis of sinus venosus atrial septal defect, in the setting of enlarged right chambers of the heart because of pressure overload. Modified anatomy of the heart, together with the presence of a prominent linear structure(probably Eustachian Valve) and an incomplete examination in this case made image interpretation very prone to misinterpretation. In this anatomical setting transesophageal longitudinal "bicaval" view may be sub-optimal for examining the atrial septum, potentially showing false images that need to be known for correct image interpretation. Nonetheless, a scan plane taken more accurately at the superior level would have demonstrated/excluded the pathognomonic feature of sinus venosus atrial septal defect in the high atrial septum, between the fatty limbus and the inferior aspect of the right pulmonary artery; moreover TEE allows morphological information about the posterior structures of the heart that need to be investigated in detail for a complete diagnosis.

Retrospective Study of 156 Atrial Septal Defects in Dogs and Cats (2001–2005)

“…Several studies have shown that standard transthoracic echocardiography and most of all, trans‐oesophageal echocardiography shows high sensitivity and specificity in detecting patent foramen ovale, small secundum‐type ASD and also defects of the interatrial foramen primum with the absence of false‐positive results (Shub et al, 1983; Belkin et al., 1994; Schneider et al, 1996). On the other hand, according to human cardiologists, diagnostic errors regarding ASD are more often due to false‐negative results, and this is particularly the case with sinus venosus ASDs (Shub et al, 1983; Pascoe et al, 1996): inexperienced operators may fail to recognize or suspect sinus venosus ASDs when using transthoracic echocardiography and trans‐oesophageal echocardiography, whereas when performed by experienced operators (Gaibazzi et al, 2003), this is the most accurate way to diagnose this complex defect.…”

Paradoxial embolism as a cause of ischemic stroke in patient with sinus venosus atrial septal defect

“…Однако существуют особенности, к которым можно отнести расположение данного дефекта в высоких отделах МПП и недостаточный опыт врача-эхокардиографиста в диагностике редких врожденных пороков сердца у взрослых пациентов. Стандартная бикавальная позиция с одновременной визуализацией обеих полых вен в качестве ориентиров корректной визуализации МПП, используемая для диагностики ООО и наиболее распространенных ДМПП, не оптимальна для визуализации дефектов типа sinus venosus из-за их расположения в высокой части МПП [24]. Эхокардиографист должен иметь особую настороженность в отношении данной патологии, в первую очередь при наличии признаков необъяснимой легочной гипертензии [25,26] З а к л ю ч е н и е Представленный клинический случай иллюстрирует возможность развития ИИ у пациента среднего возраста по механизму парадоксальной эмболии, реализующейся через редкий вариант ДМПП -sinus venosus.…”

MRI for detection of anomalous pulmonary venous drainage in patients with sinus venosus atrial septal defects

“…Precise assessment of the presence and location of the APVDs remains an important prerequisite for planning an adequate surgical approach [6]. Diagnostic difficulties are encountered with transthoracic (TTE) and transesophageal echocardiography (TEE) as well as with the invasive method of oxymetry and selective pulmonary artery angiography [1,[7][8][9][10]. According to previous publications, contrast-enhanced magnetic resonance angiography (MRA) has proven useful because of enabling a 3D reconstruction of the heart and the great vessels for the detection of APVDs [11][12][13][14].…”