A family with a newelastingene mutation: broad clinical spectrum, including sudden cardiac death
نویسندگان
چکیده
منابع مشابه
Apical Hypertrophic Cardiomyopathy in a Case with Chest Pain and Family History of Sudden Cardiac Death: A Case Report
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, which is caused by a multitude of mutations in genes encoding proteins of the cardiac sarcomere (1). Apical hypertrophic cardiomyopathy (AHCM) is an uncommon type of HCM. The sudden cardiac death is less likely to occur in the patients inflicted with AHCM (2). Herein, we presented the case of a 29-year-old man ...
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Sudden cardiac death in the community remains a major public health problem. The purpose of this article is to outline the epidemiology, pathophysiology, and immediate treatment of the cardiac arrest victim. The subsequent in-hospital diagnostic evaluation and management will then be discussed with an emphasis on the role of the implantable cardioverter-defibrillator. A systematic and evidence ...
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704 available family members (mother and sister) and revealed no abnormalities. A genetic study was performed to gain insight into SCD in the family and identify family members at potential risk. DNA was extracted from peripheral blood by phenol extraction. Next-generation sequencing (NGS) in the proband was performed using the TruSight One (TSO, Illumina, San Diego, California, United States) ...
متن کاملHistomorphological Spectrum of Various Cardiac Changes in Sudden Death: An Autopsy Study
Background and Objectives: In spite of large number of studies conducted so far, sudden cardiac death remains an enigma and relative importance of acute coronary events as a trigger of sudden death is currently unclear. An autopsy study of heart was therefore planned to observe various histomorphological cardiac changes, and to determine the frequency association of acute coronary events and my...
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cardiac involvement infrequently occurs in hypopituitarism, and lethal cardiac arrhythmias are rarely reported. we present a middle age female who died as a consequence of refractory ventricular arrhythmia whose medical history and previous laboratory investigation were consistent with hypopituitarism. we conclude that hypopituitarism may lead to electrocardiographic changes and malignant ventr...
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ژورنال
عنوان ژورنال: Cardiology in the Young
سال: 2010
ISSN: 1047-9511,1467-1107
DOI: 10.1017/s1047951110001563