A case of familial restrictive cardiomyopathy due to a novel variant in TNNI3
محل انتشار: اولین همایش علوم پایه دربیماریهای ارثی کودکان
سال انتشار: 1398
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 472
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شناسه ملی سند علمی:
BSIPD01_043
تاریخ نمایه سازی: 5 بهمن 1398
چکیده مقاله:
Introduction: Restrictive cardiomyopathy accounts for 2.5-5% of all types of cardiomyopathy. It has a heterogeneous etiology; here, we report a case of RCM due to a novel variant in TNNI3 gene.Materials & Methods: A 2 years-old female referred to Rajaei Hospital. Clinical evaluations, echocardiogram and cardiac MRI were performed. Coding regions of TNNI3 gene were amplified and sequenced. In silico analysis was done using mutationtaster and CADD software tools.Results: Moderate RV dysfunction and LVEF 35% leading to HT (heart transplantation) were noticed in the patient. She had a sister died cause of SCD when she was 1 year old. We found a homozygous novel variant (c.406C> T) in patient. Therefore we examined this variant for other members of her family and confirmed in her parent and brother but not founded in her sister Conclusion & discussion: It seems that autosomal recessive type of RCM may have a high frequency in Iran TNNI3 gene may have a major role and it is recommended to check in more RCM patients
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نویسندگان
Saranaz Seyed Aliakbar
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Bahareh Rabbani
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Sepideh Taghavi
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Nejat Mahdieh
۴.Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran