Cervantes-Arriaga Amin, Rodríguez-Violante Mayela, Villar-Velarde Alejandra, Vargas-Cañas Steven
Instituto Nacional de Neurología y Neurocirugía, Manuel Velasco Suárez, México DF, México.
Gac Med Mex. 2009 Jul-Aug;145(4):343-6.
Friedreich's ataxia is the most common hereditary ataxia and its clinical spectrum includes cardiac disease, mainly hypertrophic cardiomyopathy.
We present two cases with molecular diagnosis of Friedreich's ataxia and cardiac disease shown on electrocardiogram and echocardiogram.
Neurological symptoms which lead to the diagnosis are described together with cardiac comorbidities.
The cases here described highlight the importance of early screening and identification of systemic complications, specifically cardiac disease, in patients with this neurological disease.
弗里德赖希共济失调是最常见的遗传性共济失调，其临床谱包括心脏疾病，主要是肥厚型心肌病。
我们报告两例经分子诊断为弗里德赖希共济失调且心电图和超声心动图显示有心脏疾病的病例。
描述了导致诊断的神经学症状以及心脏合并症。
此处描述的病例凸显了对患有这种神经疾病的患者进行早期筛查和识别全身并发症，特别是心脏疾病的重要性。
