Genotype–phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome

2008 ◽  
Vol 146A (5) ◽  
pp. 620-628 ◽  
Author(s):  
Giuseppe Limongelli ◽  
Anna Sarkozy ◽  
Giuseppe Pacileo ◽  
Paolo Calabrò ◽  
Maria Cristina Digilio ◽  
...  
Keyword(s):  
Natural History ◽  
Left Ventricular Hypertrophy ◽  
Ventricular Hypertrophy ◽  
Left Ventricular ◽  
Leopard Syndrome ◽  
Phenotype Analysis ◽  
History Of

Natural history of left ventricular hypertrophy in infants of diabetic mothers

2021 ◽  
Author(s):  
Emanuele Monda ◽  
Federica Verrillo ◽  
Ippolita Altobelli ◽  
Michele Lioncino ◽  
Martina Caiazza ◽  
...  
Keyword(s):  
Natural History ◽  
Left Ventricular Hypertrophy ◽  
Ventricular Hypertrophy ◽  
Left Ventricular ◽  
Infants Of Diabetic Mothers ◽  
History Of ◽  
Diabetic Mothers

Fabry Disease

2016 ◽  
Author(s):  
Michael West ◽  
Gabor Linthorst
Keyword(s):  
Natural History ◽  
Left Ventricular Hypertrophy ◽  
Enzyme Replacement Therapy ◽  
Fabry Disease ◽  
Patient Outcomes ◽  
Ventricular Hypertrophy ◽  
Unknown Origin ◽  
Left Ventricular ◽  
Enzyme Replacement ◽  
Modest Effect

Fabry disease was initially believed to be a very rare disorder, but an increase in prevalence following screening studies revealed that it may be more frequent in a less severe (nonclassical) variant. The adult physician can encounter both phenotypes: classical disease arising in childhood, or after establishing the diagnosis in an adult male. The nonclassical phenotype is usually diagnosed after additional investigations in a patient with renal disease or left ventricular hypertrophy (LVH) of unknown origin. Enzyme replacement therapy (ERT) appears to have a modest effect in Fabry disease, and many challenges remain both in understanding the pathophysiology and natural history as well as in improving patient outcomes.

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