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jtitle_s:("Acta mol")
Acta Myologica  2008;27(3):114-122.
Sudden cardiac death, or cardiac arrest, is a major health problem, causing about 166,200 deaths each year among adults in the United States. It may be caused by almost all known heart diseases. Most cardiac arrests occur when the diseased heart begins to exhibit rapid and/or chaotic activity, such as ventricular tachycardia or fibrillation. Some are due to extreme slowing of the heart. All these events are called life-threatening arrhythmias. Arrhythmogenic cardiomyopathy is a frequent feature in several muscular dystrophies with a potential risk of cardiac sudden death. Among the measures able to predict the propensity to develop life-threatening arrhythmias, heart rate variability is an accepted non invasive measurement of cardiac autonomic modulation. The use of heart rate variability to measure the extent of changes in autonomic nervous system is an established risk stratification procedure in different diseases. In fact numerous studies have demonstrated the positive prognostic power of altered heart rate variability values to predict all-cause mortality, cardiac events, sudden cardiac death and heart transplantation. Usefulness of heart rate variability as a predictor of sudden cardiac death in muscular dystrophies has been reviewed.
PMCID: PMC2858940  PMID: 19472920
Heart rate variability; sudden cardiac death; muscular dystrophies
4.  Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients 
Acta Myologica  2008;27(3):82-89.
Myotonic dystrophy type 1 (DM1) is the most frequently inherited neuromuscular disease in adults. It is a multisystemic disorder with major cardiac involvement most commonly represented by first-degree atrioventricular heart block (AVB), followed by different degrees of bundle-branch and intraventricular blocks. In search for candidate genes, modifiers of the AVB phenotype in DM1, the expression of the small-conductance calcium activated potassium channel (SK3) gene was analysed in muscle biopsies from DM1 patients. The association between SK3 polymorphisms and the AVB phenotype was then studied analyzing 40 DM1 patients with AVB and 40 age-matched DM1 affected individuals with no ECG abnormalities. [CTG]n repeat length and cardiac clinical picture were also assessed for correlation. QRT-PCR experiments showed an over-expression of the SK3 transcript in DM1 muscle biopsies compared to healthy controls. However, no statistical association between the AVB phenotype and either the [CTG]n expansion length or the presence of specific SNPs in the SK3 gene were detected. These findings suggest that modifier genes, other than SK3, should be identified in order to explain the cardiac phenotypic variability among DM1 patients.
PMCID: PMC2858941  PMID: 19472917
Myotonic dystrophy; cardiac phenotype; SK3; SNPs; association study

Results 1-4 (4)