Phenotypic Variation of Familial Hypertrophic Cardiomyopathy Caused by the Phe110→Ile Mutation in Cardiac Troponin T

Cardiology ◽  
2000 ◽  
Vol 93 (3) ◽  
pp. 155-162 ◽  
Author(s):  
Tong-Lang Lin ◽  
Sahoko Ichihara ◽  
Yoshiji Yamada ◽  
Tetsuo Nagasaka ◽  
Hitoshi Ishihara ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Phenotypic Variation ◽  
Cardiac Troponin ◽  
Troponin T ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Cardiac Troponin T

scholarly journals Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy

2002 ◽  
Vol 19 (3) ◽  
pp. 309-310 ◽  
Author(s):  
Giovanni Cuda ◽  
Andrea Mussari ◽  
Daniela Concolino ◽  
Francesco S. Costanzo ◽  
Pietro Strisciuglio
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Cardiac Troponin ◽  
Troponin T ◽  
Friedreich Ataxia ◽  
Gene Mutations ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Cardiac Troponin T

scholarly journals Abnormal heart rate regulation in murine hearts with familial hypertrophic cardiomyopathy-related cardiac troponin T mutations

2011 ◽  
Vol 300 (2) ◽  
pp. H627-H635 ◽  
Author(s):  
Jesus Jimenez ◽  
Jil C. Tardiff
Keyword(s):  
Heart Rate ◽  
Hypertrophic Cardiomyopathy ◽  
High Frequency ◽  
Cardiac Troponin ◽  
Adrenergic Receptor ◽  
Autonomic Function ◽  
Troponin T ◽  
Low Frequency ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Cardiac Troponin T

Mutations in cardiac troponin T (cTnT), Δ160E and R92Q, have been linked to familial hypertrophic cardiomyopathy (FHC), and some studies have indicated that these mutations can lead to a high incidence of sudden cardiac death in the relative absence of significant ventricular hypertrophy. Alterations in autonomic function have been documented in patients with hypertrophic cardiomyopathy. We hypothesize that alterations in autonomic function may contribute to mutation-specific clinical phenotypes in cTnT-related FHC. Heart rate (HR) variability (HRV) has been used to assess autonomic function from an electrocardiograph. Nontransgenic, Δ160E, or R92Q mice were implanted with radiofrequency transmitters to obtain continuous electrocardiograph recordings during 24-h baseline and 30-min recordings after β-adrenergic receptor drug injections. Although Δ160E mice did not differ from nontransgenic mice for any 24-h HRV measurements, R92Q mice had impaired HR regulation, as measured by a decrease in the SD of the R-R interval, a decrease in the low frequency-to-high frequency ratio, a decrease in normalized low frequency, and an increase in normalized high frequency. β-Adrenergic receptor density measurements and HRV analysis after drug injections did not reveal any significant differences for Δ160E or R92Q mice versus nontransgenic mice. Arrhythmia analysis revealed both an increased incidence of heart block in R92Q mice at baseline and frequency of premature ventricular contractions after isoproterenol injections in Δ160E and R92Q mice. In addition, Δ160E and R92Q mice exhibited a prolonged P duration after drug injections. Therefore, between two independent and clinically severe cTnT mutations within the same functional domain, only R92Q mice exhibited altered autonomic function, whereas both mutations demonstrated abnormalities in conduction and ventricular ectopy.

scholarly journals Ile90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree

2008 ◽  
Vol 90 (5) ◽  
pp. 445-450 ◽  
Author(s):  
CHAO XU ◽  
MENG WEI ◽  
BIN SU ◽  
XUE-WEI HUA ◽  
GUO-WEI ZHANG ◽  
...  
Keyword(s):  
Amino Acid ◽  
Hypertrophic Cardiomyopathy ◽  
Linkage Analysis ◽  
Cardiac Troponin ◽  
Troponin T ◽  
Novel Mutation ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Chinese Family ◽  
Cardiac Troponin T ◽  
Genome Wide

SummaryTo identify the disease-causing gene for a large multi-generational Chinese family affected by familial hypertrophic cardiomyopathy (FHCM), genome-wide screening was carried out in a Chinese family with FHCM using micro-satellite markers, and linkage analysis was performed using the MLINK program. The disease locus was mapped to 1q32 in this family. Screening for a mutation in the cardiac troponin T (cTnT) gene was performed by a PCR and sequencing was done with an ABI Prism 3700 sequencer. A novel C→G transition located in the ninth exon of the cTnT gene, leading to a predicted amino acid residue change from Ile to Met at codon 90, was identified in all individuals with hypertrophic cardiomyopathy (HCM). The results presented here strongly suggest that Ile90Met, a novel mutation in the cTnT gene, is causative agent of HCM in this family.

α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere

Cell ◽  
1994 ◽  
Vol 77 (5) ◽  
pp. 701-712 ◽  
Author(s):  
Ludwig Thierfelder ◽  
Hugh Watkins ◽  
Calum MacRae ◽  
Roger Lamas ◽  
William McKenna ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Cardiac Troponin ◽  
Troponin T ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Cardiac Troponin T

scholarly journals Investigation of a Truncated Cardiac Troponin T That Causes Familial Hypertrophic Cardiomyopathy

2000 ◽  
Vol 86 (11) ◽  
pp. 1146-1152 ◽  
Author(s):  
Charles Redwood ◽  
Karin Lohmann ◽  
Wu Bing ◽  
Giovanna M. Esposito ◽  
Kathryn Elliott ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Cardiac Troponin ◽  
Troponin T ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Cardiac Troponin T
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