Amini Omidreza, Lakziyan Rasool, Abavisani Mahnaz, Sarchahi Zohreh
Neyshabur University of Medical Sciences, Neyshabur, Iran.
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences (IUMS), Tehran, Iran.
Ann Med Surg (Lond). 2021 May 24;66:102408. doi: 10.1016/j.amsu.2021.102408. eCollection 2021 Jun.
Friedreich's Ataxia is an autosomal recessive disease and is usually associated with arterial dysfunction, muscle weakness, spasm in the lower extremities, scoliosis, bladder dysfunction, lack of reflexes in the lower extremities, and imbalance. Approximately 2.3 people have cardiomyopathy. In this article, we have reviewed a case of Friedreich's Ataxia with hypertrophic cardiomyopathy.
A 19-year-old woman with Friedreich's Ataxia has been protesting since she was 11 years old and complained of chest pains, dyspnea, and heart palpitations without a medical history. In ECG, Asymmetrical invert T wave diffuse, diffuse ST-segment depression, and left ventricular hypertrophy were observed. In echocardiography, the left ventricle was reported as hyperimmobile with increased EF (70-75%).
In the present study, a patient with Friedrich Ataxia was diagnosed with chest pain, dyspnea, and palpitations without any medical history, and was discharged from the hospital after treatment. In the patients introduced and our patient, there was significant fibro-myocardial hypertrophy, in which the ventricular septal hypertrophy was marked by hypertrophic cardiomyopathy.
Because early diagnosis of the disease is difficult, clinical signs and the patient's current profile at the time of referral will be very helpful.
弗里德赖希共济失调是一种常染色体隐性疾病，通常与动脉功能障碍、肌肉无力、下肢痉挛、脊柱侧弯、膀胱功能障碍、下肢反射缺失及平衡失调有关。约2.3%的患者患有心肌病。在本文中，我们回顾了一例伴有肥厚型心肌病的弗里德赖希共济失调病例。
一名19岁患有弗里德赖希共济失调的女性自11岁起就出现不适，主诉胸痛、呼吸困难和心悸，无病史。心电图显示T波不对称倒置、ST段弥漫性压低以及左心室肥厚。超声心动图显示左心室活动减弱，射血分数增加（70 - 75%）。
在本研究中，一名患有弗里德里希共济失调的患者在无任何病史的情况下被诊断为胸痛、呼吸困难和心悸，经治疗后出院。在已报道的患者及我们的患者中，均存在明显的纤维性心肌肥厚，其中以肥厚型心肌病导致的室间隔肥厚最为显著。
由于该病早期诊断困难，临床体征及转诊时患者的当前状况将非常有帮助。
