Multiple disease genes cause hypertrophic cardiomyopathy

Watkins, Hugh

doi:10.1136/hrt.72.6_suppl.s4

Cited by 40 publications

(20 citation statements)

References 42 publications

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“…Despite the well-established genetic etiologies (31,32), the pathogenic processes leading to FHC remain obscure. Longitudinal pathological changes linked to the disease state in these patients are hard to obtain because of the nature of the disease.…”

Section: Discussionmentioning

confidence: 99%

“…5 g of total RNA was loaded onto a nitrocellulose membrane (Zeta-probe; Bio-Rad, Hercules, CA) using a dot blotting apparatus (Bio-Rad). Hybridization using 32 P-end-labeled oligonucleotides was performed as described previously (23). In each case, the specificity of the oligonucleotide was confirmed by hybridizations to genomic Southern blots and/or Northern blots of cardiac total RNA.…”

Section: Dna Constructs and Tg Micementioning

confidence: 99%

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A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy.

et al. 1998

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Familial hypertrophic cardiomyopathy can be caused by mutations in genes encoding sarcomeric proteins, including the cardiac isoform of myosin binding protein C (MyBP-C), and multiple mutations which cause truncated forms of the protein to be made are linked to the disease. We have created transgenic mice in which varying amounts of a mutated MyBP-C, lacking the myosin and titin binding domains, are expressed in the heart. The transgenically encoded, truncated protein is stable but is not incorporated efficiently into the sarcomere. The transgenic muscle fibers showed a leftward shift in the pCa 2 ϩ -force curve and, importantly, their power output was reduced. Additionally, expression of the mutant protein leads to decreased levels of endogenous MyBP-C, resulting in a striking pattern of sarcomere disorganization and dysgenesis. ( J. Clin. Invest.

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Section: Discussionmentioning

confidence: 99%

Section: Dna Constructs and Tg Micementioning

confidence: 99%

A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy.

et al. 1998

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“…The disease results from genetic abnormalities established in approximately 63% of the patients 3,4 . The main genes related to the disease are located in chromosome 14 -the locus responsible for the heavy chain of cardiac β-myosin; in chromosome 1 -o locus responsible for troponin T; and in chromosome 11, responsible for the binding of myosin to C-protein 5 .…”

Section: Introductionmentioning

confidence: 99%

Realce tardio e perfusão miocárdica em cardiomiopatia hipertrófica (comparação entre grupos)

Barbosa¹,

Castro²,

Ávila³

et al. 2009

Arq. Bras. Cardiol.

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SummaryBackground: The magnetic resonance imaging (MRI) is an effective method to study hypertrophic cardiomyopathy (HCM).Objective: To evaluate, using MRI, the parameters of systolic function, perfusion and myocardial viability in patients with HCM, comparing the groups with and without obstruction of the left ventricular outflow tract.Methods: Twenty-one patients with a diagnosis of HCM underwent the assessment of myocardial function, viability and perfusion under stress and at rest through MRI.Results: The ventricular segments most severely impaired by hypertrophy were those of the septal region. The obstructive group presented segmental myocardial thickening distribution similar to the non-obstructive group, but with higher means than the first group. The mean ejection fraction of the patients in the obstructive group was higher than in the non-obstructive group, whereas the means of the end systolic and diastolic volumes were lower in the obstructive group. There was a positive correlation between the ventricular segmental thickening and the late enhancement segmental mass. The stress induction resulted in an increase in the number of segments with perfusion alterations and this alteration was more evident in the obstructive group. Conclusion

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“…O tipo I em que a alteração está localizada no gene situado no locus 1 do braço longo do cromossoma 14 (14 q1), produzindo alteração na cadeia pesada da miosina b cardíaca -é o tipo mais freqüente, representando cerca de 50% dos casos de CMH. O tipo II a alteração está localizada no cromossoma 1 (1q3) modificando a troponina T, o tipo III decorre de alteração no cromossoma 15 (15 q2) e na a tropomiosina e o tipo IV cuja mutação é no cromossoma 11, modificando a miosina cardíaca ligada à proteína C 65 . A expressão fenotípica da hipertrofia ventricular esquerda (HVE) é de grande relevância na CMH, pois pode somente ser encontrada no início da vida adulta, após o surto de desenvolvimento da adolescência, não sendo observada na infância.…”

Section: Etiologiaunclassified

“…Em avaliação de 300 familiares de pacientes com CMH, verificou-se que 25% deles tinham a doença e que em 70% ela era assintomática 65 72 . São fatores que acarretam risco de MS na CMH: as grandes espessuras do septo e da massa, taquicardia induzindo isquemia miocárdica, obstrução da via de saída do VE com grande gradiente, exercício físico induzindo hipotensão, exercício físico intenso e o período matutino 72 .…”

Section: Prevençãounclassified

Cardiomiopatias

Fo¹

1998

Arq. Bras. Cardiol.

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Multiple disease genes cause hypertrophic cardiomyopathy

Cited by 40 publications

References 42 publications

A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy.

A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy.

Realce tardio e perfusão miocárdica em cardiomiopatia hipertrófica (comparação entre grupos)

Cardiomiopatias

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