Different Clinical Presentation and Tissue Characterization in a Monozygotic Twin Pair with MYH7 Mutation-Related Hypertrophic Cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Hypertrophic Cardiomyopathy in a Monozygotic Twin Pair
A 70-year-old female patient was admitted to our hospital because of atypical chest pain and fatigue. No relevant diseases were recorded in her previous medical history. During the physical examination, she presented with a mild systolic murmur. Her 12-lead ECG indicated right bundle branch block (Figure 1A), and blood pressure was normal. Initial blood test showed normal hs-Troponin T and D-di...
متن کاملHypertrophic cardiomyopathy in monozygotic twins.
Cardiomyopathies Division Heart Institute (InCor) – São Paulo University Medical School Mailing adress: Aloir Q. Araujo InCor Av. Dr. Enéas de Carvalho Aguiar, 44 05403-900 São Paulo, SP – Brazil – E-mail: [email protected] Received: 3/3/04 Accepted 25/3/04 Male monozygotic twins (MT), age 19 years, with obstructive hypertrophic cardiomyopathy (HCM), symptoms (exertional dyspnea) started ...
متن کاملTwin sisters, monozygotic with the fragile X mutation, but with a different phenotype.
The absence of the fragile X mental retardation protein (FMRP) results in fragile X syndrome. All males with a full mutation in the FMR1 gene and an inactive FMR1 gene are mentally retarded while 60% of the females with a full mutation are affected. Here we describe monozygotic twin sisters who both have a full mutation in their FMR1 gene, one of whom is normal while the other is affected. Usin...
متن کاملFaster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation.
The first mutation associated with hypertrophic cardiomyopathy (HCM) is the R403Q mutation in the gene encoding β-myosin heavy chain (β-MyHC). R403Q locates in the globular head of myosin (S1), responsible for interaction with actin, and thus motor function of myosin. Increased cross-bridge relaxation kinetics caused by the R403Q mutation might underlie increased energetic cost of tension gener...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: International Heart Journal
سال: 2019
ISSN: 1349-2365,1349-3299
DOI: 10.1536/ihj.18-167