J Pediatr 2011 Nov 23;159(5):862-4. Epub 2011 Jul 23.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
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Am Heart J 1992 Mar;123(3):814-6
Third Department of Internal Medicine, Nagasaki University School of Medicine, Japan.
Arch Mal Coeur Vaiss 1990 Apr;83(4):537-42
Service de cardiologie, hôpital Boucicaut, Paris.
Four cases of hypertrophic obstructive cardiomyopathy diagnosed on clinical, phonomechanographic, echocardiographic and haemodynamic criteria progressing to dilated cardiomyopathy are reported. This evolution was observed over a number of years (up to 20 years) and was accompanied by a clinical aggravation in all cases with 2 deaths and atrial fibrillation in 3 of the 4 cases. The signs of intraventricular obstruction [systolic murmur, bulge on the carotid pulse tracing, systolic anterior motion of the mitral valve (SAM) and intraventricular pressure gradient] disappeared as the left heart chambers dilated with a reduction in ventricular wall motion and parietal thinning but no change in myocardial mass. Read More
Ter Arkh 1992 ;64(11):125-6
Clin Biochem 2013 Dec 28;46(18):1787-92. Epub 2013 Aug 28.
Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Background: Diagnosis of aminoacidopathies and organic acidemias constitutes a real challenge in a developing country with high consanguinity rate and no systematic newborn screening. We report a twelve-year experience with the identification of these disorders in Lebanon, based on their clinical and biochemical profiles.
Methods: In this retrospective study, we reviewed clinical presentation and biochemical investigations of 294 patients. Read More