Publications by authors named "M Blich"
Background: Dilated cardiomyopathy (DCM) caused by Lamin A/C gene (LMNA) mutation is complicated with atrioventricular conduction disturbances, malignant ventricular arrhythmias and progressive severe heart failure.
Objective: We hypothesized that early cardiac resynchronization therapy (CRT) implantation in LMNA mutation carriers with an established indication for pacemaker or implantable cardioverter defibrillator (ICD), may preserve ejection fraction, and delay disease progression to end stage heart failure.
Methods: We compared the primary outcomes: time to heart transplantation, death due to end stage heart failure or ventricular tachycardia (VT) ablation and secondary outcomes: change in left ventricular ejection fraction (EF) and ventricular arrhythmia burden between LMNA DCM patients in the early CRT and non-CRT groups.
Article Synopsis
- Arrhythmogenic cardiomyopathy (AC) is a serious inherited heart condition caused by the replacement of heart muscle cells (cardiomyocytes) with fibrous and fatty tissue, leading to dangerous heart rhythms and potential heart failure, with genetic variants in the DSG2 gene being linked to this disease.* -
- A specific variant of DSG2, called Ser194Leu, was analyzed in a patient with AC, where advanced imaging techniques (electron microscopy) and tissue staining revealed structural abnormalities and reduced protein expression in heart cells.* -
- The findings suggest that the Ser194Leu variant is a harmful mutation contributing to arrhythmogenic left ventricular cardiomyopathy, underlining the importance of accurate genetic variant classification for patient care.*
Background: Determining the pathogenesis of sudden cardiac arrest (SCA) in children is crucial for its management and prognosis. Our aim is to analyze the role of broad genetic testing in the prevention, diagnosis, and prognosis of SCA in Children.
Methods: ECG, 12-lead holter, exercise testing, cardiac imaging, familial study, and genetic testing were used to study 29 families, in whom a child experienced SCA.
Cardiac involvement in acute Q fever is rare. We report 2 cases of an advanced atrioventricular block in young adult patients in Israel who sought care for acute Q fever without evidence of myocarditis. Q fever should be suspected in unexplained conduction abnormalities, especially in febrile young patients residing in disease-endemic areas.
View Article and Find Full Text PDFNon-ischemic sudden cardiac arrest: Role of 12 lead Holter, family screening and genetic testing.
Pacing Clin Electrophysiol
August 2021
Objective And Background: To evaluate the diagnostic and prognostic yield of a comprehensive protocol involving clinical and broad genetic testing in consecutive sudden cardiac arrest (SCA) population. Determining the pathogenesis of non-ischemic SCA is crucial for management and SCA prevention in other family members METHODS: Families with unexplained non-ischemic SCA event underwent rigorous clinical and genetic protocol after referral to our inherited arrhythmia clinic, during 2011-2017.
Results: One hundred and four index cases, 29 ± 16 years, and 421 family members were studied.