Evaluation of demographic, clinical, and aetiological data of patients admitted to cardiology clinics and diagnosed with left ventricular hypertrophy in Turkish population (LVH-TR)

Diferenças entre Duas Condições Cardíacas Hipertróficas Distintas: Doença de Fabry Versus Cardiomiopatia Hipertrófica

“…Além disso, os pacientes foram internados no ambulatório dentro de um intervalo de tempo no estudo LVH-TR, e esses grupos de pacientes foram alcançados por triagem, e não por telefone. 25 Portanto, conhecer as diferenças durante a triagem de DF e CMH, possivelmente nos estágios iniciais, ajudará a diagnosticar ambas as doenças e a alcançar o tratamento rapidamente.…”

“…Since the LVH-TR study was a screening study, and first of all, the conditions with a clear LVH etiology were determined and further evaluated for the unexplained LVH etiology, and then the diagnosis of FD was reached, and perhaps due to population characteristics, renal involvement in FD patients may have been low levels (GFR: 73.9±31.0 ml/min in FD). 25 FD and HCM can raise myocardial injury indicators like troponin (especially with LVOTO). 31 - 33 It has been stated that endothelial dysfunction may be observed in Fabry cardiomyopathy (defined as LV wall thickness of 12 mm and above in Cardiac MRI imaging) due to changes in angiogenesis markers.…”

“…Female patients did not have variant mutations of uncertain significance. 25 , 26 FD diagnosed with lower a-Gal activity in males and gene mutation analysis in females in patients with unexplained LVH. Although lower A-Gal A activity in men is sufficient for diagnosis, genetic analysis was performed for further evaluation.…”

“…Pacientes do sexo feminino não apresentavam mutações variantes de significado incerto. 25 , 26 DF foi diagnosticada com menor atividade de a-Gal em homens e análise de mutação genética em mulheres em pacientes com HVE inexplicada. Embora a menor atividade de A-Gal A em homens seja suficiente para o diagnóstico, a análise genética foi realizada para avaliação adicional.…”

Focus issue on cardiomyopathies

“…Left ventricular mass index (LVMI) provides quantitative information on left ventricular structure. In their multicentre, national, observational study including 886 patients, Kis et al showed that the rate of LV hypertrophy of unknown cause was high (18.8%) and that Fabry disease and cardiac amyloidosis should be considered primarily in this patient group [8]. Huang et al reported the clinical and echocardiographic features of 99 patients with newly diagnosed AL amyloidosis.…”