Diastolic Abnormalities as the First Feature of Hypertrophic Cardiomyopathy in Dutch Myosin-Binding Protein C Founder Mutations

Michels, Michelle; Soliman, Osama Ibrahim Ibrahim; Kofflard, Marcel; Hoedemaekers, Yvonne M.; Dooijes, Dennis; Majoor‐Krakauer, Danielle; Cate, Folkert J. ten

doi:10.1016/j.jcmg.2008.08.003

Cited by 86 publications

(69 citation statements)

References 30 publications

(26 reference statements)

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“…These characteristics can be measured by both echocardiography (using tissue Doppler imaging) and CMR (using a phase-contrast imaging technique). [9][10][11] With phase contrast imaging, static tissue remains grey and tissue that moves at relatively high velocities appears as very bright or dark, depending on the direction of movement (figure 3). This technique is generally used for blood flow quantification, but can also be accurately employed to measure (diastolic) myocardial velocities.…”

Section: Familial Hcmmentioning

confidence: 99%

The role of cardiac magnetic resonance imaging in differentiating the underlying causes of left ventricular hypertrophy

Germans

Nijveldt²,

Brouwer³

et al. 2010

NHJL

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135reVIeW ArtIcle the role of cardiac magnetic resonance imaging in differentiating the underlying causes of left ventricular hypertrophyThe onset of sudden cardiac death and large inter-and intra-familial clinical variability of hyper trophic cardiomyopathy pose an important clinical challenge. Cardiac magnetic resonance imaging is a high-resolution imaging modality that has become increasingly available in the past decade and has the unique possibility to demonstrate the presence of fibrosis or scar using late gadolinium enhancement imaging. As a result, the diagnostic and prognostic potential of cardiac magnetic resonance imaging has been extensively explored in acute and chronic ischaemic cardiomyopathy, as well as in several nonischaemic cardiomyopathies.This review aims to provide a critical overview of recently published studies on hypertrophic cardiomyopathy and discusses the role of cardiac magnetic resonance imaging in differentiating underlying causes of hypertrophic cardiomyopathy, such as familial hypertrophic cardiomyopathy, cardiac involvement in systemic disease and left ventricular hypertrophy due to endurance sports. Also, it demonstrates the use of cardiac magnetic resonance in risk stratification for the onset of sudden cardiac death, and early identification of asymptomatic family members of hypertrophic cardiomyopathy patients who are at risk for the development of hypertrophic cardiomyopathy. (Neth Heart J 2010;18:135-43.)

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Section: Familial Hcmmentioning

confidence: 99%

The role of cardiac magnetic resonance imaging in differentiating the underlying causes of left ventricular hypertrophy

Germans

Nijveldt²,

Brouwer³

et al. 2010

NHJL

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“…All three are truncating mutations, namely c.2373dupG, c.2827C4T (p.Arg943X), and c.2864_2865delCT. [4][5][6] Immunoblotting studies on myocardial tissue from carriers of the c.2373dupG and c.2864_2865delCT truncating mutations have demonstrated absence of the truncated MyBPC3 protein product coupled to a decreased total (full-length) MyBPC3 content, strongly suggesting a mechanism of haploinsufficiency. 5 Although not functionally investigated, the c.2827C4T mutation, which introduces a premature stop codon at residue 943, encodes for a similarly C-terminally truncated protein (Figure 1), and is therefore also expected to lead to haploinsufficiency.…”

Section: Introductionmentioning

confidence: 99%

The role of renin–angiotensin–aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy

et al. 2012

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The phenotypic variability of hypertrophic cardiomyopathy (HCM) in patients with identical pathogenic mutations suggests additional modifiers. In view of the regulatory role in cardiac function, blood pressure, and electrolyte homeostasis, polymorphisms in the renin-angiotensin-aldosterone system (RAAS) are candidates for modifying phenotypic expression. In order to investigate whether RAAS polymorphisms modulate HCM phenotype, we selected a large cohort of carriers of one of the three functionally equivalent truncating mutations in the MYBPC3 gene. Family-based association analysis was performed to analyze the effects of five candidate RAAS polymorphisms (ACE, rs4646994; AGTR1, rs5186; CMA, rs1800875; AGT, rs699; CYP11B2, rs1799998) in 368 subjects carrying one of the three mutations in the MYBPC3 gene. Interventricular septum (IVS) thickness and Wigle score were assessed by 2D-echocardiography. SNPs in the RAAS system were analyzed separately and combined as a pro-left ventricular hypertrophy (LVH) score for effects on the HCM phenotype. Analyzing the five polymorphisms separately for effects on IVS thickness and Wigle score detected two modest associations. Carriers of the CC genotype in the AGT gene had less pronounced IVS thickness compared with CT and TT genotype carriers. The DD polymorphism in the ACE gene was associated with a high Wigle score (P ¼ 0.01). No association was detected between the pro-LVH score and IVS thickness or Wigle score. In conclusion, in contrast to previous studies, in our large study population of HCM patients with functionally equivalent mutations in the MYBPC3 gene we did not find major effects of genetic variation within the genes of the RAAS system on phenotypic expression of HCM.

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“…These founder mutations often comprise a large part (10 to 25%) of the detected mutations in these countries. Founder mutations for HCM have been found in the Netherlands, 52,53 South Africa, 54 Finland, 55 Italy, 56 Japan, 57 South Asia 58 and in the Amish population of the United States. 5 Founder mutations in the netherlands DNA diagnostics for HCM have been available in the Netherlands since 1996.…”

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confidence: 99%

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands*

Christiaans¹,

Nannenberg²,

Dooijes³

et al. 2014

De Nederlandse Gezondheidszorg

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In this part of a series on cardiogenetic founder mutations in the Netherlands, we review the Dutch founder mutations in hypertrophic cardiomyopathy (HCM) patients. HCM is a common autosomal dominant genetic disease affecting at least one in 500 persons in the general population. Worldwide, most mutations in HCM patients are identified in genes encoding sarcomeric proteins, mainly in the myosin-binding protein C gene (MYBPC3, OMIM #600958) and the beta myosin heavy chain gene (MYH7, OMIM #160760). In the Netherlands, the great majority of mutations occur in the MYBPC3, involving mainly three Dutch founder mutations in the MYBPC3 gene, the c.2373_2374insG, the c.2864_2865delCT and the c.2827C>T mutation. In this review, we describe the genetics of HCM, the genotype-phenotype relation of Dutch founder MYBPC3 gene mutations, the prevalence and the geographic distribution of the Dutch founder mutations, and the consequences for genetic counselling and testing. (Neth Heart J 2010;18:248-54.)

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Diastolic Abnormalities as the First Feature of Hypertrophic Cardiomyopathy in Dutch Myosin-Binding Protein C Founder Mutations

Cited by 86 publications

References 30 publications

The role of cardiac magnetic resonance imaging in differentiating the underlying causes of left ventricular hypertrophy

The role of cardiac magnetic resonance imaging in differentiating the underlying causes of left ventricular hypertrophy

The role of renin–angiotensin–aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands*

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