Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers

Pérez-Sánchez, Inmaculada; Romero-Puche, Antonio J.; Sáez, Esperanza García-Molina; Sabater-Molina, María; López-Ayala, José María; Muñoz‐Esparza, Carmen; López-Cuenca, David; Morena, Gonzalo de la; Castro-García, Francisco José; Gimeno-Blanes, Juan Ramón

doi:10.1016/j.rec.2017.06.002

Cited by 15 publications

(19 citation statements)

References 42 publications

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“…The presence of an additional risk factor for LV hypertrophy has been identified as modulator for the phenotypic expression of HCM [ 12 ]. Interestingly, hypertension–which was also found in the majority of our HCM cases–has been associated with later HCM diagnosis [ 13 ].…”

Section: Discussionmentioning

confidence: 97%

Prevalence of clinically apparent hypertrophic cardiomyopathy in Germany—An analysis of over 5 million patients

et al. 2018

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BackgroundHypertrophic cardiomyopathy (HCM) is the most common inherited heart disease. Reported prevalence rates vary substantially between 1:500 (0.2%) and 1:3,000 (0.03%), which may be attributed to different study designs and population characteristics.Prevalence data for Germany is not available. Consequently, this study aimed (1) to quantify age- and gender-specific clinically diagnosed HCM prevalence in Germany based on the analysis of health care claims data of > 5 million insurants in 2015, and (2) to analyze temporal prevalence trends from 2011 to 2015.MethodsData were extracted from the InGef (Insitute for Applied Health Research) database, which is an anonymized healthcare claims database with longitudinal data from patients insured in one of approximately 70 German social health insurances (SHIs). Patients were classified as HCM prevalent, if they had at least one verified ambulatory or one hospital main- or secondary discharge diagnosis of HCM (I42.1 or I42.2).ResultsIn 2015, HCM was prevalent in 4,000 out of 5,490,810 patients (0.07%; 1:1,372). HCM prevalence increased gradually with age from 7.4/100,000 persons (95% CI 5.2–10.1) in 0–9 years old to 298.7/100,000 persons (95% CI 276.4–322.4) in patients > 80 years. In all age categories, men had a numerically higher prevalence than women with significant differences in patients > 30 years. There was a gradual annual prevalence increase from 75.8 (95% CI 75.2–76.4) in 2011 to 84.2 (95% CI 83.5–84.8) in 2015 per 100,000 persons.ConclusionsOverall, prevalence of clinically diagnosed HCM in Germany is lower than in systematic population studies based on echocardiographic diagnosis. Prevalence increased with advancing age and showed a constant yearly rise. Those observations may improve our understanding of the burden of this genetic heart disease on the health care system in Germany, increase the diagnostic awareness among clinicians and shape future screening and management strategies.

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Section: Discussionmentioning

confidence: 97%

Prevalence of clinically apparent hypertrophic cardiomyopathy in Germany—An analysis of over 5 million patients

et al. 2018

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“…It was perceived that the prevalence of hypertension progressively increased with age. Interestingly, hypertension was reported to be associated with delayed diagnosis of HCM [19]. Therefore, now may be the time to change the traditional concept; hypertension is a frequent comorbid condition in patients with HCM, and its presence cannot exclude the diagnosis of HCM.…”

Section: Discussionmentioning

confidence: 99%

Trends of the prevalence and incidence of hypertrophic cardiomyopathy in Korea: A nationwide population-based cohort study

et al. 2020

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Temporal trends of the prevalence and incidence of hypertrophic cardiomyopathy (HCM) have not been well established in Asian populations. Using the Korean National Health Insurance Services database, we identified patients with a confirmed diagnosis of HCM between 2010 and 2016. The annual prevalence and incidence of HCM, and their clinical characteristics were investigated. The prevalence of HCM has increased from 0.016% (n = 6313) in 2010 to 0.031% (n = 13,035) in 2016. During a 7-year period, 13,229 patients were newly diagnosed with HCM. The incidence rate increased from 4.15 (per 100,000 personyears) in 2010 to 5.6 in 2016. The prevalence and incidence of HCM increased with age and peaked during the 70s, with male predominance in all age groups. Chest pain is the most frequent clinical presentation followed by shortness of breath and syncope. Hypertension and dyslipidemia were the two most common comorbidities. Heart failure and atrial fibrillation was diagnosed in about 1/3 and 1/4 of patients with HCM, respectively. The prevalence and incidence of HCM gradually increased from 2010 to 2016, possibly due to heightened recognition of the disease. Given the progressively high incidence of HCM with age and high prevalence of coexisting modifiable risk factors, continued efforts are required to increase awareness regarding HCM-related symptoms and potential complications. OPEN ACCESS Citation: Moon I, Lee S-Y, Kim H-K, Han K-D, Kwak S, Kim M, et al. (2020) Trends of the prevalence and incidence of hypertrophic cardiomyopathy in Korea: A nationwide populationbased cohort study. PLoS ONE 15(1): e0227012.Categorical variables (frequencies and percentages) were compared using the χ 2 test or Fisher's exact test, and continuous variables (mean ± standard deviation) were analyzed using the Prevalence and incidence of hypertrophic cardiomyopathy PLOS ONE | https://doi.org/10.1371/journal.pone.0227012 January 13, 2020 2 / 10 Handok Pharm, Dae-Woong Pharm, Yuhan, Hanmi, ChongKunDang Pharm and Norvatis. This does not alter our adherence to PLOS ONE policies on sharing data and materials. The remaining authors have nothing to disclose.Fig 1. The prevalence of HCM from 2010 to 2016. A. Temporal trend of the prevalence of HCM stratified by gender. B. Age-stratified temporal trend of HCM prevalence. HCM = hypertrophic cardiomyopathy.

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“…For example, Uighur Chinese mainly eat high-calorie foods such as pasta, beef, mutton and dairy products, and their intake of vegetables, fruits, and rice are less as compared to Han Chinese. A recent study reported that many factors affect the phenotypes of hypertrophic cardiomyopathy in genetic carriers [24]. This might explain different effects of same genotypes in Han and Uighur hypertension-OSAHS patients.…”

Section: Discussionmentioning

confidence: 99%

Deletion Polymorphism of Angiotensin Converting Enzyme Gene is Associated with Left Ventricular Hypertrophy in Uighur Hypertension-Obstructive Sleep Apnea Hypopnea Syndrome (OSAHS) Patients

Maitikuerban

Sun

et al. 2019

Med Sci Monit

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Background This study aimed to explore the association of angiotensin converting enzyme (ACE) gene insertion/deletion polymorphisms with left ventricular hypertrophy (LVH) in Han and Uighur hypertension-OSAHS (obstructive sleep apnea hypopnea syndrome) patients in China. Material/Methods A total of 162 Han and 72 Uygur patients with hypertension-OSAHS were independently subdivided into an LVH group and a non-LVH (NLVH) group based on the left ventricular mass index. The insertion/deletion polymorphisms of ACE gene were determined by polymerase chain reaction. The association of ACE gene insertion/deletion polymorphisms with LVH was assessed by chi-squared test. Logistic regression analysis was performed to obtain the odds ratios and 95% confidence intervals for the risk of LVH after adjusting for confounding factors. Results In Uighur patients, the distributions of D allele and DD genotype showed significant differences between the LVH group and the NLVH group. The difference of DD genotype remained significant after multivariate adjustment. In contrast, no significant differences were observed in the distributions of D allele and DD genotype between the LVH group and the NLVH group in Han patients. Moreover, moderate-severe OSAHS was an independent risk factor for LVH. Conclusions D allele and DD genotype of ACE gene are possible genetic markers for the risk of LVH in Uighur but not Han hypertension-OSAHS patients.

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Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers

Cited by 15 publications

References 42 publications

Prevalence of clinically apparent hypertrophic cardiomyopathy in Germany—An analysis of over 5 million patients

Prevalence of clinically apparent hypertrophic cardiomyopathy in Germany—An analysis of over 5 million patients

Trends of the prevalence and incidence of hypertrophic cardiomyopathy in Korea: A nationwide population-based cohort study

Deletion Polymorphism of Angiotensin Converting Enzyme Gene is Associated with Left Ventricular Hypertrophy in Uighur Hypertension-Obstructive Sleep Apnea Hypopnea Syndrome (OSAHS) Patients

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