Four patients developed hypotension after heart surgery. Hemodynamic measurements revealed elevated right atrial pressure with normal pulmonary capillary wedge pressure. Conventional transthoracic two-dimensional echocardiography was technically suboptimal for detection of pericardial effusion. In each patient transesophageal echocardiography demonstrated significant compression of the right atrium by a localized mass. At reoperation atrial compression by an organized hematoma was found and in each instance successfully drained. Thus, transesophageal echocardiography is superior to transthoracic echocardiography in evaluating critically ill postoperative hypotensive patients and can differentiate isolated right atrial tamponade from other causes of hemodynamic deterioration such as prosthetic valve dysfunction or left ventricular systolic dysfunction, or both.

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Background: Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings include generalized osteosclerosis and brain calcifications. RS is usually lethal during the neonatal period due to severe respiratory distress. However, there exists a non-lethal RS form, the phenotype of which is extremely heterogeneous. There is paucity of data about clinical course and life expectancy of these patients. Results: This is the first description of follow-up features of non-lethal RS patients. Moreover, we present three unpublished cases. There are five Asian and two Arab patients. All were born to consanguineous parents. The most common neonatal comorbidity was respiratory distress secondary to choanal atresia. A variable degree of neurodevelopmental delay was seen in the majority of our cases and seizures and hearing or vision involvement were also frequent. Neurological and orthopedic issues were the most frequent complications seen at follow-up in our group. Persistent hypophosphatemic rickets was the most striking endocrinological manifestation, which was scarcely responsive to therapy with phosphate salts and alfacalcidol. Life expectancy of our patients goes beyond childhood, with the oldest of those described being 18 years old at present. Conclusions: Manifestations of RS in those surviving the neonatal period are being increasingly recognized. Our study supports previous findings and provides clinical and biochemical observations and data from longer follow up. Finally, we propose multidisciplinary follow up for patients with non-lethal RS.

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