Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Both hypertrophic (HCM) and dilated cardiomyopathy (DCM) are genetically heterogeneous and typically present with an autosomal dominant mode of transmission. Whole exome sequencing and autozygosity mapping was carried out in eight un-related probands from consanguineous Middle Eastern families presenting with HCM/DCM followed by bioinformatic and co-segregation analysis to predict the potential pathogenicity of candidate variants.
View Article and Find Full Text PDFHypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, yet the genetic cause of up to 50% of cases remains unknown. Here, we show that mutations in KLHL24 cause HCM in humans. Using genome-wide linkage analysis and exome sequencing, we identified homozygous mutations in KLHL24 in two consanguineous families with HCM.
View Article and Find Full Text PDFObjective: Although coronary artery disease (CAD) is the leading cause of death in type 2 diabetic patients, it is frequently asymptomatic. Myocardial perfusion imaging (MPI) is reported to show ischemia in a significant number of asymptomatic diabetic patients. We studied the prevalence and severity of myocardial perfusion defects in asymptomatic diabetic patients and its clinical impact.
View Article and Find Full Text PDFObjectives: Although the diagnostic and prognostic importance of perfusion defects has been clearly established, the meaning of the development and characteristics of electrocardiographic (ECG) changes during dipyridamole infusion is less well defined. This study tries to evaluate the prevalence and significance of ECG changes after dipyridamole infusion and their relation to ischemia in myocardial perfusion single-photon emission computed tomography (SPECT).
Methods: Two hundred patients underwent 2-day dipyridamole stress/rest Tc-99m-sestamibi myocardial perfusion SPECT.
Pacing Clin Electrophysiol
May 2009
Background: Approximately 30% of patients with hypertrophic cardiomyopathy (HCM) suffer syncope and syncope was the only symptom associated with sudden death. However, no systematic studies in large cohorts looking at predictors of syncope are available in the literature. Therefore, we sought to determine predictors of syncope in patients with HCM.
View Article and Find Full Text PDFAims: From the spectrum of electrocardiogram (ECG) changes that may occur in hypertrophic cardiomyopathy (HCM), there is no criterion reported to be useful for risk stratification. We sought to determine whether there was a relationship between the resting ECG findings and prognosis in patients with HCM.
Methods And Results: We retrospectively analysed data on 173 consecutive patients admitted to our centre with a diagnosis of HCM.