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Background: There is a recent interest in nonsurgical correction of superior sinus venosus defects. Patient selection is currently based on advanced imaging and printing technologies. Simple clinical tools to select patients will expand its applicability in developing countries. Methods: Defects caudally extending toward the oval fossa and right upper pulmonary veins draining beyond the cavoatrial junction on transesophageal echocardiography were excluded. Balloon interrogation of cavoatrial junction confirmed complete occlusion of the defect with unobstructed pulmonary venous drainage to left atrium. Single long covered stents or overlapping covered stents were used to exclude sinus venosus defects. Closure of left-to-right interatrial shunt without causing pulmonary vein occlusion was confirmed on follow-up imaging. Results: Forty-four patients selected after transesophageal echocardiography underwent balloon interrogation with monitoring of right upper pulmonary vein. Eighteen out of 44 patients were ineligible. Twenty-four eligible patients with closure of left-to-right interatrial shunt without pulmonary vein occlusion underwent covered stent exclusion using single long stents in 15 and overlapping stents in the rest, while 2 patients are awaiting the procedure. Four patients aged 6 to 16 years received stents that were 18 mm or larger. Three patients had stent embolization that required surgical correction in 2 but in the last patient was managed nonsurgically with an overlapping covered stent with good final outcomes. Procedure was successful in 22 patients. At a median follow-up of 20 months (range, 3–54 months), there were no adverse events. Follow-up imaging showed trivial left-to-right shunt in 4 and unobstructed pulmonary veins in all patients. Conclusions: Transesophageal echocardiography and balloon interrogation identified 60% of the patients with sinus venosus defects to be eligible for catheter closure. Overlapping stents are an alternative to custom-made long stents. Transesophageal echocardiography confirms procedural success on follow-up. Advanced imaging and printing technologies are not essential for successful outcomes and thus simple tests increase the feasibility in developing countries.

Two unrelated infants who presented with global developmental delay, coarse facial features, and cardiac valve involvement were evaluated. Presence of extensive Mongolian spots along with hepatosplenomegaly and cardiac valvular involvement helped to narrow down the diagnosis as beta-galactosidase deficiency. The parents could be offered prenatal diagnosis in future pregnancy.

Analysis of seven Indian phenylketonuria families has revealed four novel mutations in the phenylalanine hydroxylase gene; two affected consensus splice sequence and the 3' UTR, respectively, while the other two were single base insertion and deletion mutations, respectively. A novel 3' splice site mutation c.168-2A>G resulted in the activation of a cryptic 3' splice site that generated a premature termination codon leading to very low levels of the mutant transcript, probably due to activation of the nonsense-mediated decay (NMD) pathway. This is probably the first report of PKU caused by the activation of NMD.

a Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India c Laboratory of Molecular and Cellular Biology, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India d Sir Ganga Ram Hospital, Delhi, India Amrita Institute of Medical Sciences and Research Center, Cochin, India Centre for Human Genetics, Bangalore, India