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   1999| September-November  | Volume 1 | Issue 5  
    Online since April 11, 2018

 
 
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MOLECULAR CARDIOLOGY
Recent advances in genetics of cardiac diseases
Yukihiro Kaneko, Orest Chevtchik, Werner Mohl
September-November 1999, 1(5):152-162
Recent progress in molecular genetics has contributed to the understanding of cardiac diseases. Genetic studies revealed that genetic mutation in a single locus results in various different congenital heart diseases, and apparently the same phenotype is caused by several different genetic mutations. Despite increasing knowledge of causative genes, genetic mechanisms of congenital heart diseases have not been elucidated. Marfan syndrome, supravalvular aortic stenosis, and Ehlers-Danlos syndrome type IV result from mutations of genes encoding fibrillin-1, elastin, and type III collagen, respectively. Long QT syndrome is caused by five or more genetic mutations of cardiac ion channels, with each locus representing one variant of the disease. Gene-specific therapy according to the genetic defects of long QT syndrome may be feasible in the near future. Coronary artery disease is a heterogeneous phenotype resulting from interactions of numerous genetic and environmental factors. Elucidation of the complex genetic factors of coronary artery disease is expected to lead to development of genetic-based diagnostic, preventive, and therapeutic tools. Although sex-linked inherited dilated cardiomyopathy results from deficient dystrophin gene, the genetic cause of most cases of dilated cardiomyopathy is uncertain. Familial hypertrophic cardiomyopathy is caused by mutations of genes encoding cardiac sarcomeric proteins. Mutant mitochondrial and/or nuclear DNA causes genetic mitochondrial dysfunction, which may lead to atrioventricular block, cardiomyopathy, and acceleration of coronary artery disease. The application of gene therapy in clinical cardiology is modest at present. The major obstacles are deficient availability of suitable vectors and limited technical sensitivity in detecting the pathogenesis of polygenic cardiac diseases. The current impact of genetics on diagnosis and treatment of cardiac disease is limited. However, in the not-too-distant future, fast paced advances in genetics will enable novel diagnostic and therapeutic approaches that will revolutionize an understanding of the pathophysiology and treatment of cardiac diseases.
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ORIGINAL ARTICLE
Conservative treatment of dilated ascending aorta a new technique
Attilio Renzulli, Marisa de Feo, Alessandro della Corte, Gennaro Ismeno, Pasquale Sante, Maurizio Cotrufo
September-November 1999, 1(5):163-169
Background The treatment of dilatation of the ascending aorta associated with aortic valve disease is still controversial. Replacement of ascending aorta and aortic valve with a composite conduit may be too radical an approach, especially in patients with moderate dilatation. To repair a dilated ascending aorta with associated aortic valve disease, we devised a technique of aortoplasty. Methods and Results Between July 1996 and July 1998, 12 patients underwent aortic valve replacement and ascending aortoplasty. Seven of them had aortic regurgitation, 3 aortic stenosis, 1 postendocarditic periprosthetic leak, and 1 calcified bioprosthesis. Indications for aortoplasty were: echocardiographic aortic diameter between 5 and 6 cm and macroscopic appearance of normal aortic wall. Contraindications to aortoplasty were: Marfan's disease, bicuspid aortic valve, calcification of ascending aortic wall, aortic dissection, and fusiform aneurysm without aortic valve disease.The aortic valve was replaced with a bileaflet valve and the ascending aorta was repaired with “waistcoat” technique. All patients survived the operation and no early or late complication was observed. Postoperative echocardiographic study showed a significant reduction of both sinotubular and ascending aortic diameters. Late postoperative echocardiographic study did not show any significant further change in the aortic diameters. Conclusion Plastic reconstruction of dilated ascending aorta with reduction of its diameter and aortic valve replacement can reduce wall stress and the incidence of late aneurysm formation or aortic dissection. Further experience and a longer follow-up time are necessary to establish the effectiveness of the technique.
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  175 0 -
MEDICAL THERAPY
New approaches in the treatment of hypertension
Omar Abboud
September-November 1999, 1(5):170-175
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  84 1 -
CARDIOVASCULAR PHARMACOLOGY
Cocaine-induced myocardial infarction
Amar Salam
September-November 1999, 1(5):176-179
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  77 2 -
SPECIAL SECTION
Chairman's reflections
Hajar A Hajar
September-November 1999, 1(5):186-189
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  73 2 -
ART AND MEDICINE
Art and Medicine

September-November 1999, 1(5):185-185
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  71 2 -
EDITORIAL
The promise of genetic medicine
Rachel Hajar
September-November 1999, 1(5):149-151
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  72 1 -
A PICTURE IS WORTH A THOUSAND WORDS
Metastatic right atrial tumor

September-November 1999, 1(5):184-184
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  71 1 -
CARDIOVASCULAR NEWS
Cardiovascular News

September-November 1999, 1(5):147-148
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  71 1 -
LETTERS
Letter

September-November 1999, 1(5):191-192
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  71 1 -
QATAR HEART PAGE
Mortality of acute myocardial infarction with thrombolytic therapy in qatar from january 1990 to february 1999*

September-November 1999, 1(5):190-190
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  71 1 -
SPORTS CARDIOLOGY
Cardiac conditions affecting athletes
Bernard EF Hockings
September-November 1999, 1(5):180-183
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  70 1 -
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