PDF(Pubmed)
Abstract：
BACKGROUND: Maternally inherited diabetes and deafness (MIDD) is a rare genetic disorder arising from mitochondrial DNA mutations, characterized by a combination of diabetes mellitus and sensorineural deafness. It is known that MIDD patients with cardiomyopathy have a poor prognosis, but there are no established guidelines for the diagnosis and follow-up of cardiomyopathy in MIDD patients.
METHODS: Patient 1 was a 48-year-old woman who visited the hospital with cardiomegaly and had been taking oral hypoglycemic agents for 8 years. Patient 2 was a 21-year-old man, the son of patient 1, who visited the hospital for genetic screening. Patient 2 was also diagnosed diabetes mellitus 2 years ago.
METHODS: Patient 1 was found to have restrictive cardiomyopathy on echocardiography and underwent endomyocardial biopsy and genetic testing to determine the etiology. The m.3243A>G mutation was confirmed and she was diagnosed with MIDD accompanied with diabetes and hearing loss. Additionally, patient 2 had m.3243 A>G mutation and was diagnosed with MIDD due to diabetes and hearing loss.
METHODS: Because MIDD does not have a specific treatment, patient 1 took ubidecarenone (coenzyme Q10), acetylcarnitine, and multivitamin along with the treatment for diabetes control and heart failure. Patient 2 was taking ubidecarenone (coenzyme Q10), acetylcarnitine, and multivitamin along with treatment for diabetes.
RESULTS: She subsequently underwent routine transthoracic echocardiography, and a progressive decline in global longitudinal strain (GLS) was first observed, followed by a worsening of the patient\'s clinical situation. Patient 2 had concentric remodeling and decreased GLS. On periodic echocardiography, GLS decreased at a very slow rate, and the patient\'s clinical course was stable.
CONCLUSIONS: The findings of this report contribute to the understanding of the clinical course of MIDD-associated cardiomyopathy and highlight the potential of GLS as a sensitive marker for disease progression.
METHODS: Patient 1 was a 48-year-old woman who visited the hospital with cardiomegaly and had been taking oral hypoglycemic agents for 8 years. Patient 2 was a 21-year-old man, the son of patient 1, who visited the hospital for genetic screening. Patient 2 was also diagnosed diabetes mellitus 2 years ago.
METHODS: Patient 1 was found to have restrictive cardiomyopathy on echocardiography and underwent endomyocardial biopsy and genetic testing to determine the etiology. The m.3243A>G mutation was confirmed and she was diagnosed with MIDD accompanied with diabetes and hearing loss. Additionally, patient 2 had m.3243 A>G mutation and was diagnosed with MIDD due to diabetes and hearing loss.
METHODS: Because MIDD does not have a specific treatment, patient 1 took ubidecarenone (coenzyme Q10), acetylcarnitine, and multivitamin along with the treatment for diabetes control and heart failure. Patient 2 was taking ubidecarenone (coenzyme Q10), acetylcarnitine, and multivitamin along with treatment for diabetes.
RESULTS: She subsequently underwent routine transthoracic echocardiography, and a progressive decline in global longitudinal strain (GLS) was first observed, followed by a worsening of the patient\'s clinical situation. Patient 2 had concentric remodeling and decreased GLS. On periodic echocardiography, GLS decreased at a very slow rate, and the patient\'s clinical course was stable.
CONCLUSIONS: The findings of this report contribute to the understanding of the clinical course of MIDD-associated cardiomyopathy and highlight the potential of GLS as a sensitive marker for disease progression.
摘要：
背景：母体遗传性糖尿病和耳聋（MIDD）是一种由线粒体DNA突变引起的罕见遗传疾病，以糖尿病和感觉神经性耳聋为特征。众所周知，患有心肌病的MIDD患者预后较差，但对于MIDD患者心肌病的诊断和随访尚无既定指南.
方法：患者1是一名48岁的女性，因心脏肥大到医院就诊，服用口服降糖药8年。病人2是一名21岁的男子,患者1的儿子，他去医院进行基因筛查。患者2在2年前也被诊断为糖尿病。
方法：患者1在超声心动图检查中发现患有限制性心肌病，并接受了心内膜活检和基因检测以确定病因。确认m.3243A>G突变，并诊断为伴有糖尿病和听力损失的MIDD。此外,2例患者有m.3243A>G突变,并因糖尿病和听力损失被诊断为MIDD.
方法：因为MIDD没有特定的治疗方法，患者1服用了阿比加利酮（辅酶Q10），乙酰肉碱,和多种维生素以及糖尿病控制和心力衰竭的治疗。患者2正在服用阿比加利酮（辅酶Q10），乙酰肉碱,和多种维生素以及糖尿病的治疗。
结果：她随后接受了常规经胸超声心动图检查，首先观察到全球纵向应变(GLS)逐渐下降，随后患者的临床情况恶化。患者2具有同心重塑和降低的GLS。在周期性超声心动图上，GLS以非常缓慢的速度下降，患者的临床病程稳定。
结论：本报告的发现有助于了解MIDD相关心肌病的临床过程，并强调GLS作为疾病进展的敏感标志物的潜力。
方法：患者1是一名48岁的女性，因心脏肥大到医院就诊，服用口服降糖药8年。病人2是一名21岁的男子,患者1的儿子，他去医院进行基因筛查。患者2在2年前也被诊断为糖尿病。
方法：患者1在超声心动图检查中发现患有限制性心肌病，并接受了心内膜活检和基因检测以确定病因。确认m.3243A>G突变，并诊断为伴有糖尿病和听力损失的MIDD。此外,2例患者有m.3243A>G突变,并因糖尿病和听力损失被诊断为MIDD.
方法：因为MIDD没有特定的治疗方法，患者1服用了阿比加利酮（辅酶Q10），乙酰肉碱,和多种维生素以及糖尿病控制和心力衰竭的治疗。患者2正在服用阿比加利酮（辅酶Q10），乙酰肉碱,和多种维生素以及糖尿病的治疗。
结果：她随后接受了常规经胸超声心动图检查，首先观察到全球纵向应变(GLS)逐渐下降，随后患者的临床情况恶化。患者2具有同心重塑和降低的GLS。在周期性超声心动图上，GLS以非常缓慢的速度下降，患者的临床病程稳定。
结论：本报告的发现有助于了解MIDD相关心肌病的临床过程，并强调GLS作为疾病进展的敏感标志物的潜力。
