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Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation.

ABSTRACT: BACKGROUND:Cardiac involvement in Danon disease typically manifests as left ventricular hypertrophy (LVH) and ventricular preexcitation. This study aimed to identify patients with Danon disease among patients with LVH and concurrent electrocardiographic preexcitation. METHODS:Electrocardiographic preexcitation was identified in 10 of 197 patients with unexplained LVH in whom genetic testing was performed using next-generation sequencing. RESULTS:Three (3/10, 30%) patients with Danon disease were found in association with different mutations in the gene of lysosome-associated membrane protein 2 (LAMP2). Compared to seven patients without Danon disease, these three patients presented with distinctive clinical phenotypes, including onset at an earlier age (20 ± 2 years vs. 53 ± 9 years, p < 0.001), more neurological involvements (100% vs. 0, p = 0.008), higher electrocardiographic voltages (10 ± 1 mV vs. 5 ± 1 mV, p < 0.001), wider QRS complexes (163 ± 5 ms vs. 115 ± 20 ms, p = 0.006), less common asymmetric hypertrophy (0% vs. 86%, p = 0.033), and more frequent elevation of three serum enzymes (creatine kinase, aspartate aminotransferase, and lactate dehydrogenase). Intracellular vacuoles accumulation with deficiencies of LAMP2 protein was found in both cardiac and skeletal myocytes of patients with Danon disease. CONCLUSION:In patients with coexistent LVH and ventricular preexcitation, Danon disease is common with distinctive clinical presentations. Comprehensive assessment of these resemble patients can provide valuable findings for early identification and clinical decision making of patients with Danon disease.

SUBMITTER: Liu Y

PROVIDER: S-EPMC6503070 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation.

Liu Yang Y Chen Xin X Wang Feng F Liang Yingcong Y Deng Hai H Liao Hongtao H Zhang Qianhuan Q Zhang Bin B Zhan Xianzhang X Fang Xianhong X Shehata Michael M Wang Xunzhang X Xue Yumei Y Wu Shulin S

Molecular genetics & genomic medicine 20190330 5

<h4>Background</h4>Cardiac involvement in Danon disease typically manifests as left ventricular hypertrophy (LVH) and ventricular preexcitation. This study aimed to identify patients with Danon disease among patients with LVH and concurrent electrocardiographic preexcitation.<h4>Methods</h4>Electrocardiographic preexcitation was identified in 10 of 197 patients with unexplained LVH in whom genetic testing was performed using next-generation sequencing.<h4>Results</h4>Three (3/10, 30%) patients w ...[more]

PMID: 30929317

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Project description:BackgroundLeft ventricular hypertrophy (LVH) strongly predicts cardiovascular diseases (CVD) and death. One-fourth of Thai adults suffer from hypertension. Nevertheless, the information on LVH among Thai patients with hypertension is not well characterized. We aimed to identify the prevalence and factors associated with electrocardiographic LVH (ECG-LVH) among patients with hypertension in Thailand.MethodsThe present study obtained the dataset from the Thailand Diabetes Mellitus/Hypertension study, which included hypertension patients aged 20 years and older receiving continuous care at outpatient clinics in hospitals nationwide in 2011-2015 and 2018. Meanwhile, those without a record of 12-lead electrocardiography (ECG) were excluded from the analysis. ECG-LVH was defined as the LVH noted regarding ECG interpretation in the medical records. Multivariable logistic regression analysis was utilized for determining factors associated with ECG-LVH and presented as the adjusted odds ratio (AOR) and 95% confidence interval (CI).ResultsFrom 226,420 hypertensive patients in the Thailand Diabetes Mellitus/Hypertension study, 38,807 individuals (17.1%) with ECG data recorded were included in the analysis. The mean age was 64.8 ± 11.5 years, and 62.2% were women. Overall, 1,557 study participants had ECG-LVH, with an estimated prevalence of 4.0% (95% CI, 3.8-4.2%). Age-adjusted ECG-LVH prevalence among women and men was 3.4 and 5.1%, respectively (P < 0.001). Multivariable analysis determined factors associated with ECG-LVH, including being men (AOR, 1.49; 95% CI, 1.31-1.69), individuals aged 70 to 79 years (AOR, 1.56; 95% CI, 1.20-2.02) and ≥ 80 years (AOR, 2.10; 95% CI, 1.58-2.78) compared to individuals aged less than 50 years, current smokers (AOR, 1.26; 95% CI, 1.09-1.46) compared to those who never smoked, systolic blood pressure ≥ 140 mmHg and diastolic blood pressure ≥ 90 mmHg (AOR, 1.58; 95% CI, 1.30-1.92) compared to systolic blood pressure < 140 mmHg and diastolic blood pressure < 90 mmHg.ConclusionsThe current study illustrated the prevalence of ECG-LVH among Thai patients with hypertension who had ECG recorded and identified high-risk groups who tended to have ECG-LVH. The findings underscore the need for targeted interventions, particularly among high-risk groups such as older individuals, men, and current smokers, to address modifiable factors associated with ECG-LVH.

Dataset Information

Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation.

Publications

Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation.

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