Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures

Ure Mamie Curley; Hamilton Mark James

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Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures

机译：Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures

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The patient is a 52-year-old male. He presented at age 41 years with a short history of shortness of breath and paroxysmal nocturnal dyspnoea. ECG showed sinus tachycardia with left bundle branch morphology (PR interval 168 ms, QRS duration 176 ms, QTc 536 ms). Echocardiogram revealed poor left ventricular function with an ejection fraction of 20%, moderate-to-severe enlargement of the right heart and left ventricle, moderate enlargement of the left atrium and functional mitral incompetence. Coronary angiogram was normal. There was no improvement in cardiac function despite optimal medical therapy.

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《Clinical dysmorphology》 |2021年第4期|177-180|共4页
作者
Ure Mamie Curley; Hamilton Mark James;
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Univ Glasgow, Coll Med Vet & Life Sci, Sch Med, Glasgow, Lanark, Scotland;

Queen Elizabeth Univ Hosp, West Scotland Ctr Genom Med, Dept Clin Genet, Level 2A Lab Med Bldg;

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正文语种英语
中图分类妇产科学;
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Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures

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