Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy

Merwe, Lize van der; Cloete, Ruben; Revera, Miriam; Heradien, Marshall; Goosen, Althea; Corfield, Valerie A.; Brink, Paul A.; Moolman‐Smook, Johanna C.

doi:10.1007/s00439-008-0524-6

Cited by 29 publications

(21 citation statements)

References 16 publications

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“…For example, ACE-1 had at least 13 SNPs. Relative studies had confirmed that the ACE-1 or ACE-2 mutation was associated with the severity of LV hypertrophy in HCM 42,43 . In addition, other genes such as myosin binding protein H have been investigated as modifiers of the hypertrophic variability in HCM 44 .…”

Section: Discussionmentioning

confidence: 96%

Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation

Wang

Wan

Sun

et al. 2018

Sci Rep

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Limited data is available on phenotypic variations with the same genotype in hypertrophic cardiomyopathy (HCM). The present study aims to explore the relationship between genotype and phenotype characterized by cardiovascular magnetic resonance (CMR) in a large Chinese family. A proband diagnosed with HCM from a multigenerational family underwent next-generation sequencing based on a custom sureSelect panel, including 117 candidate pathogenic genes associated with cardiomyopathies. All genetic results were confirmed by the Sanger sequencing method. All confirmed mutation carriers underwent CMR exam and myocardial tissue characterization using T1 mapping and late gadolinium enhancement (LGE) on a 3T scanner (Siemens Trio, Gemany). After clinical and genetic screening of 36 (including the proband) members of a large Chinese family, nineteen family members are determined to carry the single p.T1377M (c.4130C>T) mutation in the MYH7 gene. Of these 19 mutation carriers, eight are diagnosed with HCM, one was considered as borderline affected and ten are not clinically or phenotypically affected. Different HCM phenotypes are present in the nine affected individuals in this family. In addition, we have found different tissue characteristics assessed by T1 mapping and LGE in these individuals. We describe a family that demonstrates the diverse HCM phenotypes associated with a single MYH7 mutation.

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Section: Discussionmentioning

confidence: 96%

Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation

Wang

Wan

Sun

et al. 2018

Sci Rep

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“…Indeed, other disease variables such as modifier genes and environmental factors 17,23,24 may well play a role in the development of certain morphological abnormalities observed in HCM, including mitral valve enlargement. Although increased mitral valve leaflet length was identified in some children (as young as 13 years of age), our study design did not permit determination of whether mitral valve enlargement in HCM can represent a congenital malformation.…”

Section: Discussionmentioning

confidence: 99%

Mitral Valve Abnormalities Identified by Cardiovascular Magnetic Resonance Represent a Primary Phenotypic Expression of Hypertrophic Cardiomyopathy

et al. 2011

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Background-Whether morphological abnormalities of the mitral valve represent part of the hypertrophic cardiomyopathy (HCM) disease process is unresolved. Therefore, we applied cardiovascular magnetic resonance to characterize mitral valve morphology in a large HCM cohort. Methods and Results-Cine cardiac magnetic resonance images were obtained in 172 HCM patients (age, 42Ϯ18 years; 62% men) and 172 control subjects. In addition, 15 HCM gene-positive/phenotype-negative relatives were studied. Anterior mitral leaflet (AML) and posterior mitral leaflet lengths were greater in HCM patients than in control subjects (26Ϯ5 versus 19Ϯ5 mm, PϽ0.001; and 14Ϯ4 versus 10Ϯ3 mm, PϽ0.001, respectively), including 59 patients (34%) in whom AML length alone, posterior mitral leaflet length alone, or both were particularly substantial (Ͼ2 SDs above controls

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“…The first development has been the identification of the polymorphisms in the ACE2 and angiotensin II type 2 receptor genes as modifiers of cardiac hypertrophy in patients with HCM (table 2). 47 48 The second development has been new insights gained from studies of functional effects of genetic mutations that cause HCM in the South African founder families 49 50. Long-term follow-up of founder families with HCM (due to β myosin heavy chain ( MYH7 ) R403W and troponin T ( TNNT2 ) R92W mutations) showed that all carriers of the TNNT2 R92W mutation (who typically have no cardiac hypetrophy during their youth) developed hypertrophy after the age of 35 years, and the MYH7 R403W mutation is a strong predictor of the development of left ventricular dilation and systolic dysfunction in later life 51.…”

Section: What Is New On the Pathogenesis Of Heart Failure And Cardiommentioning

confidence: 99%

Recent advances in the epidemiology, pathogenesis and prognosis of acute heart failure and cardiomyopathy in Africa

Sliwa

Mayosi

2013

Heart

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This review addresses recent advances in the epidemiology, pathogenesis and prognosis of acute heart failure and cardiomyopathy based on research conducted in Africa. We searched Medline/PubMed for publications on acute decompensated heart failure and cardiomyopathy in Africa for the past 5 years (ie, 1 January 2008 to 31 December 2012). This was supplemented with personal communications with colleagues from Africa working in the field. A large prospective registry has shown that acute decompensated heart failure is caused by hypertension, cardiomyopathy and rheumatic heart disease in 90% of cases, a pattern that is in contrast with the dominance of coronary artery disease in North America and Europe. Furthermore, acute heart failure is a disease of the young with a mean age of 52 years, occurs equally in men and women, and is associated with high mortality at 6 months (∼18%), which is, however, similar to that observed in non-African heart failure registries, suggesting that heart failure has a dire prognosis globally, regardless of aetiology. The molecular genetics of dilated cardiomyopathy, hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy in Africans is consistent with observations elsewhere in the world; the unique founder effects in the Afrikaner provide an opportunity for the study of genotype-phenotype correlations in large numbers of individuals with cardiomyopathy due to the same mutation. Advances in the understanding of the molecular mechanisms of peripartum cardiomyopathy have led to promising clinical trials of bromocriptine in the treatment of peripartum heart failure. The key challenges of management of heart failure are the urgent need to increase the use of proven treatments by physicians, and the control of hypertension in primary care and at the population level.

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Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy

Cited by 29 publications

References 16 publications

Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation

Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation

Mitral Valve Abnormalities Identified by Cardiovascular Magnetic Resonance Represent a Primary Phenotypic Expression of Hypertrophic Cardiomyopathy

Recent advances in the epidemiology, pathogenesis and prognosis of acute heart failure and cardiomyopathy in Africa

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