Objective: To summarize the different cardiac shunt presentation in right heart contrast echocardiography and to clarify its clinical value for diagnosing the patients with congenital heart disease (CHD).
Methods: We retrospectively analyzed 102 patients who received right heart contrast echocardiography in our hospital from 2006 to 2014. The contrast media was the hand-vibrated mixture of 9 ml 50% glucose solution with 1 ml air.
Results: There were 49/102 patients with abnormal blood shunt detected including 8 patients of atrial septal defect (ASD) with right to left or dual shunt, 7 of ASD with left to right shunt, 9 of patent foramen ovale (PFO) with functional right to left shunt, 13 of patent ductus arteriosus (PDA) combining pulmonary arterial hypertension, 3 of pulmonary arteriovenous ifstula (PAVF), 9 patients with persistent left superior vena cava (PLSVC) and 8 of them drain to coronary vein sinus, 1 drain to left atrium.
Conclusion: Right heart contrast echocardiography may simply and effectively detect abnormal blood shunt in patients combining pulmonary arterial hypertension and improve the diagnostic accuracy of CHD.

Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron disease with significant phenotypic viability. Here, we present a genetically identified SBMA family without bulbar paralysis or androgen insensitivity. All four male patients presented with progressive lower motor neuron paralysis in all limbs, with distal extremities more dominant. None of them had bulbar palsy or androgen insensitivity. A consistently mild elevated blood creatine phosphokinase (CPK) levels were detected in all patients and the EMG showed a chronic neurogenic damage. Muscle biopsy of propositus indicated a typical neurogenic amyotrophy. Genetic testing for SMA of mutation in SMN1 was negative, while for SBMA of androgen receptor showed the increased CAG repeat in exon 1, suggesting that although bulbar symptoms and androgen insensitivity are characteristic symptoms of SBMA, they are not obligatory for the diagnosis. In adult males with a chronic motor neuron syndrome without upper motor neuron signs, even in absence of the classical features of androgen insensitivity or bulbar findings, genetic testing for SBMA should be strongly considered.
Adult ; Bulbo-Spinal Atrophy, X-Linked ; complications ; diagnosis ; genetics ; Creatine Kinase ; blood ; Genetic Testing ; Humans ; Male ; Motor Neurons ; pathology ; Muscular Atrophy ; etiology ; Mutation ; genetics ; Paralysis ; diagnosis ; etiology ; Pedigree ; Receptors, Androgen ; genetics