Resumo Fundamento A cardiomiopatia hipertrófica (CMH) e a doença de Fabry (DF) são doenças herdadas geneticamente com características fenotípicas de hipertrofia ventricular esquerda (HVE) que causam resultados cardíacos adversos. Objetivos Investigar as diferenças demográficas, clínicas, bioquímicas, eletrocardiográficas (ECG) e ecocardiográficas (ECO) entre CMH e DF. Métodos 60 pacientes com CMH e 40 pacientes com DF foram analisados retrospectivamente como uma subanálise do “estudo LVH-TR” após exclusão de pacientes com fibrilação atrial, ritmo de estimulação, bloqueios de ramo e bloqueios atrioventriculares (AV) de segundo e terceiro graus. O nível de significância foi aceito como <0,05. Resultados O sexo masculino (p=0,048) e a creatinina (p=0,010) são significativamente maiores a favor da DF; entretanto, infradesnivelamento do segmento ST (p=0,028), duração do QT (p=0,041), espessura do septo interventricular (SIVd) (p=0,003), espessura da parede posterior (PWd) (p=0,009), insuficiência mitral moderada a grave (IM) (p=0,013) e o índice de massa ventricular esquerda (IMVE) (p=0,041) são significativamente maiores a favor da CMH nas análises univariadas. Na análise multivariada, a significância estatística apenas permanece na creatinina (p=0,018) e na duração do intervalo QT (0,045). A DF foi positivamente correlacionada com a creatinina (rho=0,287, p=0,004) e a CMH foi positivamente correlacionada com o PWd (rho=0,306, p=0,002), IVSd (rho=0,395, p<0,001), IM moderada-grave (rho= 0,276, p<0,005), IMVE (rho=0,300, p=0,002), espessura relativa da parede (ERP) (rho=0,271, p=0,006), duração do QT (rho=0,213, p=0,034) e depressão do segmento ST (rho =0,222, p=0,026). Conclusão Características bioquímicas, ECG e ECO específicas podem auxiliar na diferenciação e no diagnóstico precoce da CMH e da DF. (CMH (DF HVE (HVE adversos demográficas clínicas bioquímicas (ECG (ECO 6 4 estudo LVHTR LVH TR LVH-TR atrial estimulação AV (AV graus 005 0 05 <0,05 p=0,048 p0048 p 048 (p=0,048 p=0,010 p0010 010 (p=0,010 entretanto p=0,028, p0028 p=0,028 , 028 (p=0,028) p=0,041, p0041 p=0,041 041 SIVd (SIVd p=0,003, p0003 p=0,003 003 (p=0,003) (PWd p=0,009, p0009 p=0,009 009 (p=0,009) (IM p=0,013 p0013 013 (p=0,013 (IMVE (p=0,041 univariadas multivariada p=0,018 p0018 018 (p=0,018 0,045. 0045 0,045 . 045 (0,045) rho=0,287, rho0287 rho 287 (rho=0,287 p=0,004 p0004 004 rho=0,306, rho0306 306 (rho=0,306 p=0,002, p0002 p=0,002 002 p=0,002) rho=0,395, rho0395 395 (rho=0,395 p<0,001, p0001 p<0,001 001 p<0,001) moderadagrave rho= 0276 276 0,276 p<0,005, p0005 p<0,005 p<0,005) rho=0,300, rho0300 300 (rho=0,300 ERP (ERP rho=0,271, rho0271 271 (rho=0,271 p=0,006, p0006 p=0,006 006 p=0,006) rho=0,213, rho0213 213 (rho=0,213 p=0,034 p0034 034 0222 222 =0,222 p=0,026. p0026 p=0,026 026 p=0,026) 00 <0,0 p=0,04 p004 04 (p=0,04 p=0,01 p001 01 (p=0,01 p002 p=0,02 02 (p=0,028 p000 p=0,00 (p=0,003 (p=0,009 0,04 (0,045 rho=0,287 rho028 28 (rho=0,28 rho=0,306 rho030 30 (rho=0,30 rho=0,395 rho039 39 (rho=0,39 p<0,00 027 27 0,27 rho=0,300 rho=0,271 rho027 (rho=0,27 rho=0,213 rho021 21 (rho=0,21 p=0,03 p003 03 022 22 =0,22 <0, p=0,0 p00 (p=0,0 (p=0,02 (p=0,00 0,0 (0,04 rho=0,28 rho02 2 (rho=0,2 rho=0,30 rho03 3 (rho=0,3 rho=0,39 p<0,0 0,2 rho=0,27 rho=0,21 =0,2 <0 p=0, p0 (p=0, 0, (0,0 rho=0,2 rho0 (rho=0, rho=0,3 p<0, =0, < p=0 (p=0 (0, rho=0, (rho=0 p<0 =0 p= (p= (0 rho=0 p< = (p (
Abstract Background Hypertrophic cardiomyopathy (HCM) and Fabry disease (FD) are genetically inherited diseases with left ventricular hypertrophy (LVH) phenotype characteristics that cause adverse cardiac outcomes. Objectives To investigate the demographic, clinical, biochemical, electrocardiographic (ECG), and echocardiographic (ECHO) differences between HCM and FD. Methods 60 HCM and 40 FD patients were analyzed retrospectively as a subanalysis of the ‘LVH-TR study’ after excluding patients with atrial fibrillation, pace rhythm, bundle branch blocks, and second and third-degree atrioventricular (AV) blocks. The significance level was accepted as <0.05. Results Male gender (p=0.048) and creatinine (p=0.010) are significantly higher in favor of FD; however, ST depression (p=0.028), QT duration (p=0.041), interventricular septum thickness (IVSd) (p=0.003), posterior wall thickness (PWd) (p=0.009), moderate-severe mitral regurgitation (MR) (p=0.013), and LV mass index (LVMI) (p=0.041) are significantly higher in favor of HCM in the univariate analyses. In multivariate analysis, statistical significance only continues in creatinine (p=0.018) and QT duration (0.045). FD was positively correlated with creatinine (rho=0.287, p=0.004) and HCM was positively correlated with PWd (rho=0.306, p=0.002), IVSd (rho=0.395, p<0.001), moderate-severe MR (rho=0.276, p<0.005), LVMI (rho=0.300, p=0.002), relative wall thickness (RWT) (rho=0.271, p=0.006), QT duration (rho=0.213, p=0.034) and ST depression (rho=0.222, p=0.026). Conclusion Specific biochemical, ECG, and ECHO characteristics can aid in the differentiation and early diagnosis of HCM and FD. (HCM (FD LVH (LVH outcomes demographic clinical biochemical ECG , (ECG) (ECHO 6 4 ‘LVHTR LVHTR ‘LVH TR study fibrillation rhythm blocks thirddegree third degree AV (AV 005 0 05 <0.05 p=0.048 p0048 p 048 (p=0.048 p=0.010 p0010 010 (p=0.010 however p=0.028, p0028 p=0.028 028 (p=0.028) p=0.041, p0041 p=0.041 041 (IVSd p=0.003, p0003 p=0.003 003 (p=0.003) (PWd p=0.009, p0009 p=0.009 009 (p=0.009) moderatesevere moderate severe (MR p=0.013, p0013 p=0.013 013 (p=0.013) (LVMI (p=0.041 analyses analysis p=0.018 p0018 018 (p=0.018 0.045. 0045 0.045 . 045 (0.045) rho=0.287, rho0287 rho 287 (rho=0.287 p=0.004 p0004 004 rho=0.306, rho0306 306 (rho=0.306 p=0.002, p0002 p=0.002 002 p=0.002) rho=0.395, rho0395 395 (rho=0.395 p<0.001, p0001 p<0.001 001 p<0.001) rho=0.276, rho0276 276 (rho=0.276 p<0.005, p0005 p<0.005 p<0.005) rho=0.300, rho0300 300 (rho=0.300 RWT (RWT rho=0.271, rho0271 271 (rho=0.271 p=0.006, p0006 p=0.006 006 p=0.006) rho=0.213, rho0213 213 (rho=0.213 p=0.034 p0034 034 rho=0.222, rho0222 222 (rho=0.222 p=0.026. p0026 p=0.026 026 p=0.026) (ECG 00 <0.0 p=0.04 p004 04 (p=0.04 p=0.01 p001 01 (p=0.01 p002 p=0.02 02 (p=0.028 p000 p=0.00 (p=0.003 (p=0.009 (p=0.013 0.04 (0.045 rho=0.287 rho028 28 (rho=0.28 rho=0.306 rho030 30 (rho=0.30 rho=0.395 rho039 39 (rho=0.39 p<0.00 rho=0.276 rho027 27 (rho=0.27 rho=0.300 rho=0.271 rho=0.213 rho021 21 (rho=0.21 p=0.03 p003 03 rho=0.222 rho022 22 (rho=0.22 <0. p=0.0 p00 (p=0.0 (p=0.02 (p=0.00 0.0 (0.04 rho=0.28 rho02 2 (rho=0.2 rho=0.30 rho03 3 (rho=0.3 rho=0.39 p<0.0 rho=0.27 rho=0.21 rho=0.22 <0 p=0. p0 (p=0. 0. (0.0 rho=0.2 rho0 (rho=0. rho=0.3 p<0. < p=0 (p=0 (0. rho=0. (rho=0 p<0 p= (p= (0 rho=0 (rho= p< (p ( rho= (rho