Accelerated coronary atherosclerosis and H syndrome

Novel homozygousSLC29A3mutations among two unrelated Egyptian families with spectral features of H-syndrome

“…From the endocrinal aspect, short stature with evidence of GH deficiency was found in A1965 who had normal pubertal development. On the other hand, A1966 who was 12 years old, still prepubertal with low basal gonadotropins and unresponsive to GnRH stimulation study consistent with hypogonadotropic hypogonadism secondary to either pituitary or hypothalamic failure . These hormonal variations could be considered as another evidence for intra‐familial heterogeneity among probands of family‐II (A1965 and A1966), a similar conclusion was reached in previous studies .…”

Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the <b><i>SLC29A3</i></b> Gene

“…Acute phase reactants were above normal limits. Increased inflammation markers (erythrocyte sedimentation rate and C-reactive protein levels) were reported previously in H syndrome patients in the literature [Spiegel et al, 2010;Shankarappa et al, 2011;Mohanan et al, 2013;Mutlu et al, 2013]. It would be useful to investigate clues of inflammation in cases with H syndrome in order to develop treatment strategies.…”

“…Interseptal defects, valve problems, pericardial effusion, pericarditis, complete agenesis of the inferior vena cava, venous return anomalies, and left SVC to coronary sinus were previously reported. A 12-yearold patient presented with acute myocardial infarction and was diagnosed with H syndrome afterwards [Shankarappa et al, 2011]. Mild left ventricular hypertrophy, dilated coronary sinus, and double SVC were the abnormalities detected in the cardiovascular system of our otherwise asymptomatic patient.…”

“…The various cardiovascular anomalies seen in H syndrome suggest that hENT3 plays an important role in the in normal development of the cardiovascular system [Prendiville et al, 2007;Molho-Pessach et al, 2008a, b;Shankarappa et al, 2011;Mutlu et al, 2013;Tekin et al, 2015]. Cardiac anomalies are present in 23% of affected females and 34% of males with H syndrome [Molho-Pes- , 2014].…”

Sclerodermoid plaques: A riddle of ′H′

“…[4] H syndrome is an autosomal-recessive genodermatosis with multisystem involvement and diverse cutaneous phenotypes. The mean age of onset is 10 years and a male preponderance is observed.…”