Hypertrophic Cardiomyopathy

Butt, Asra; Alkhatib, Deya; Pour-Ghaz, Issa; Isa, Sakiru; Al-Taweel, Omar; Ugonabo, Ifeoma; Yedlapati, Neeraja; Jefferies, John L.

doi:10.3390/jcdd10030106

Cited by 2 publications

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References 15 publications

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“…Жалобы при ГКМП могут отсутствовать, что осложняет своевременную диагностику заболевания [27]. Основные симптомы заболевания обусловлены четырьмя главными патофизиологическими нарушениями: диастолической дисфункцией, обструкцией ВТЛЖ, дисбалансом между обеспечением доставки кислорода и потребностью в нём миокардом и нарушениями ритма сердца [4].…”

Section: Discussionunclassified

Specifics of Left Ventricular Hypertrophy and Characteristic of Phenotypic Variants in Patients with Hypertrophic Cardiomyopathy

Игнатенко

Тарадин

Куглер

2023

Arhivʺ vnutrennej mediciny

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Hypertrophic cardiomyopathy is characterized by genetic and phenotypic heterogeneity which manifests in different variants of localization and extent of myocardial hypertrophy.Aim: to evaluate specifics of left ventricular hypertrophy, the prevalence and characteristics of clinical and instrumental features of phenotypic variants of hypertrophic cardiomyopathy.Materials and methods. The study includes 295 patients with hypertrophic cardiomyopathy aged 18 to 88 years (60.3±13.4 years), 183 men (62 %), and women 112 (38 %). The diagnosis of which was established by 2D echocardiography. The severity, localization and extent of myocardial hypertrophy, the maximum thickness of the hypertrophied segment, left ventricular myocardial mass, left ventricular myocardial mass index, the presence and severity of mid-ventricular and left ventricular outflow tract obstruction were evaluated. Depending on the predominant localization and extent of hypertrophy, patients were divided into 8 groups according to the recommendations for hypertrophic cardiomyopathy of the Ministry of Health of the Russian Federation. The analysis and comparison of the obtained results are carried out.Results. The average duration of the disease is 10.5±7.52 years. The mean values of the body mass index in patients — 28.2±2.82 kg/m2. The phenotype with basal hypertrophy of the septum (n=130, 44.1 %), group 1 was most often noted. In 47 (15.9 %) patients, hypertrophy of the septum of “reverse curve” (2 group) was detected, in 41 (13.9 %) — “neutral septum” (3 group), in 36 (12.2 %) — symmetrical hypertrophy of the left ventricle (8 group), 11 (3.7 %) of patients had combined hypertrophy of the septum and other parts of the left or right ventricle (4 group) and the free left ventricular wall (7 group), in 10 (3.4 %) — middle ventricular hypertrophy of the left ventricle (6 group) and in 9 (3.1 %) — apical hypertrophy (5 group). The highest value of the maximum thickness of the myocardium was noted in patients of the 6th group 19.3 (1920.4 mm). Mid-ventricular obstruction was detected in group 6 (90 %), left ventricular outflow tract obstruction was more often registered in groups 4 and 8 (81.8 % and 77.8 %), and less often in group 5 (22.2 %) (p <0.01). In group 7, there were no cases of rest obstruction of left ventricular outflow tract. The maximum values of myocardial mass and left ventricular myocardial mass index were noted in group 8 — 402 (356-439) g and 195 (173218) g/m2, respectively (p <0.01).Conclusion. Echocardiography is an informative tool for assessing the presence, severity myocardial hypertrophy and determination of the phenotypic variant of hypertrophic cardiomyopathy. Variants of septal hypertrophy are most commonly registered one, among which the most frequent is the phenotype of basal septal hypertrophy. Each phenotype of hypertrophic expression is characterized by its echocardiographic parameters.

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Section: Discussionunclassified

Specifics of Left Ventricular Hypertrophy and Characteristic of Phenotypic Variants in Patients with Hypertrophic Cardiomyopathy

Игнатенко

Тарадин

Куглер

2023

Arhivʺ vnutrennej mediciny

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“…The first HCM-associated mutation was identified in 1989 in the MYH7 gene, which encodes MHC, a sarcomeric protein of the thick filament [ 7 , 17 , 31 ]. Thus far, >1400 HCM-associated mutations have been identified, of which approximately 90% have been found in the genes encoding proteins of the thin and thick filaments of the sarcomere ( MYH7 , MYBPC3 , and TNNT2 , which encode MHC, cardiac MyBP-C, and cardiac TnT) [ 7 , 12 , 18 , 35 , 36 , 37 ].…”

Section: Genetic Foundation Of Hcmmentioning

confidence: 99%

Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers

2023

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Hypertrophic cardiomyopathy (HCM) is the most prevalent heritable cardiomyopathy. HCM is considered to be caused by mutations in cardiac sarcomeric protein genes. Recent research suggests that the genetic foundation of HCM is much more complex than originally postulated. The clinical presentations of HCM are very variable. Some mutation carriers remain asymptomatic, while others develop severe HCM, terminal heart failure, or sudden cardiac death. Heterogeneity regarding both genetic mutations and the clinical course of HCM hinders the establishment of universal genotype–phenotype correlations. However, some trends have been identified. The presence of a mutation in some genes encoding sarcomeric proteins is associated with earlier HCM onset, more severe left ventricular hypertrophy, and worse clinical outcomes. There is a diversity in the mechanisms implicated in the pathogenesis of HCM. They may be classified into groups, but they are interrelated. The lack of known supplementary elements that control the progression of HCM indicates that molecular mechanisms that exist between genotype and clinical presentations may be crucial. Secondary molecular changes in pathways implicated in HCM pathogenesis, post-translational protein modifications, and epigenetic factors affect HCM phenotypes. Cardiac loading conditions, exercise, hypertension, diet, alcohol consumption, microbial infection, obstructive sleep apnea, obesity, and environmental factors are non-molecular aspects that change the HCM phenotype. Many mechanisms are implicated in the course of HCM. They are mostly interconnected and contribute to some extent to final outcomes.

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Hypertrophic Cardiomyopathy

Abstract: Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy resulting from a mutation in one of several cardiac sarcomeric proteins [...]

Cited by 2 publications

References 15 publications

Specifics of Left Ventricular Hypertrophy and Characteristic of Phenotypic Variants in Patients with Hypertrophic Cardiomyopathy

Specifics of Left Ventricular Hypertrophy and Characteristic of Phenotypic Variants in Patients with Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers

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