Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion
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 ...
متن کاملDIFFUSE CORONARY ARTERIAL ECTASIA WITH HYPERTROPHIC CARDIOMYOPATHY
A 40 year old male, a known case of hypertrophic cardiomyopathy, was admitted for catheterization. At catheterization and angiography, septum was hypertrophied to about 5cm and diffuse coronary artery aneurysm was revealed. We found no previous report of coronary artery aneurysm in hypertrophic cardiomyopathy.
متن کاملIdentification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome
Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family. Case Report: The...
متن کاملHypertrophic cardiomyopathy with unusual features in a family.
waves, a systolic ejection murmur, and wide splitting of the second heart sound. The electrocardiogram was characterized by a short PR interval, increasedQRS amplitude, and persistent ST depression. There was little or no cardiomegaly but some pulmonary artery prominence. There was no evidence of subaortic stenosis or coronary artery disease in three members who were catheterized, but mild infu...
متن کاملSevere, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome.
OBJECTIVE Leopard syndrome is an acronym (multiple Lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) describing an autosomal dominant disease due to mutations in the raS-MapK pathway. METHODS Here, we describe a family (mother and daughter) with clinical and molecular diagn...
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ژورنال
عنوان ژورنال: Journal of Neurology
سال: 2020
ISSN: 0340-5354,1432-1459
DOI: 10.1007/s00415-020-10059-3