Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.

The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur. Cardiac disease emerges silently and contributes significantly to early mortality.The clinical examination of individuals with MPS is often difficult due to physical and, sometimes, intellectual patient limitations. The absence of precordial murmurs does not exclude the presence of cardiac disease. Echocardiography and electrocardiography are key diagnostic techniques for evaluation of valves, ventricular dimensions and function, which are recommended on a regular basis. The optimal technique for evaluation of coronary artery involvement remains unsettled.Standard medical and surgical techniques can be modified for MPS patients, and systemic therapies such as hematopoietic stem cell transplantation and enzyme replacement therapy (ERT) may alter overall disease progression with regression of ventricular hypertrophy and maintenance of ventricular function. Cardiac valve disease is usually unresponsive or, at best, stabilized, although ERT within the first few months of life may prevent valve involvement, a fact that emphasizes the importance of early diagnosis and treatment in MPS.

Imaging and surgical repair of a bifurcating aortico-left ventricle tunnel.

Aortico-left ventricle tunnels are rare congenital anomalies with variable anatomy; however, by definition, they consist of an abnormal connection between the ascending aorta and the left ventricle. Diagnosis is usually by echocardiography, and treatment typically uses a two-patch surgical repair. Herein, we describe a case of an aortico-left ventricle tunnel, with the tunnel bifurcating before entering the left ventricle. Preoperative echocardiography and magnetic resonance imaging show the lesion in great detail. Two patches were required on the left-ventricular side of the tunnel for closure. A bifurcating aortico-left ventricle tunnel has not yet been described in the literature. The preoperative imaging and surgical management are discussed.

Touch, Justification, and Sex: Influences on the Aversiveness of Spatial Violations.

Hall's pioneering studies designated discrete zones of interpersonal space appropriate to levels of intimacy within a culture. This project investigated variables expected to affect reactions of Ss to entry into their intimate zone by strangers. Violations of Hall's intimate zone were predicted to be more aversive to males when accompanied by physical contact and when lacking prior psychological justification. In Experiment 1 a female confederate (C) sat six inches from individual Ss (21 males and 23 females) and touched half the Ss. Half the Ss were given a rationalization for the C's intrusion. Experiment 2 was a replication with a male C and 40 male and 40 female Ss. Aversive reactions were measured by decrements in performance and liking. As predicted, touch and no justification resulted in significantly lower task performance by males only, regardless of sex of intruder. Intrusions decreased liking by males and increased liking by females. It is concluded that proxemic theory should be elaborated to account for the effects of touch, justification, and sex.