Two siblings with Mayer‐Rokitansky‐Küster‐Hauser (MRKH) syndrome associated with pulmonary valvular stenosis are reported. Although the syndrome is well documented, the genetic background and familial occurrence is not known and the association with cardiac anomalies has not previously been reported. This report is the first report which describes the combination of cardiac anomaly with MRKH syndrome.

The objective of this study was to determine differences between pediatrician and pediatric cardiologists regarding initial assessment of neonatal heart murmur and to evaluate the role of echocardiography in this group of patients. During a 6-month period, all term births in the obstetric unit at Faculty of Medicine, Gazi University, Ankara, Turkey, were initially evaluated clinically by a pediatrician and the most likely clinical diagnosis was recorded. Neonates with a heart murmur were evaluated by the pediatric cardiologist who was unaware of the previous diagnosis. A similar number of neonates without a heart murmurs was also evaluated by a pediatric cardiologist as a control group. Echocardiography was performed in both groups. For pediatrician and pediatric cardiologists, accuracy of the clinical examination demonstrated a sensitivity of 33.3% and 40% in detecting a pathological murmur and a specificity of 95.5% and 98.8%, respectively. No statistically significant differences existed between the two groups. Pediatricians can assess the significance of neonatal heart murmurs as well as pediatric cardiologists.

Patients with acute rheumatic fever sometimes present with atypical signs and symptoms. In these circumstances, the Jones criterions may not be sufficient to make a clinical diagnosis. We describe here two patients with unusual presentations, highlighting that, both in regions where the disease is endemic, or where it is seen only sporadically, physicians should be more alert and careful in making the diagnosis.