背景:卡尼综合征是一种罕见的常染色体疾病,与PRKAR1A基因突变密切相关。皮损是卡尼综合征最明显的特征,影响超过80%的患有这种疾病的人。这种综合征的特征是粘液瘤的三联征,皮肤色素沉着,和内分泌机能亢进,以皮肤和心脏受累的多种内分泌肿瘤为特征。扩张型心肌病,原发性心肌病,定义为左心室或两个心室的扩张和收缩功能受损。其临床表现从无症状到心力衰竭或心源性猝死,使其成为全球心力衰竭的主要原因。目前,扩张型心肌病的患病率估计为1/2500-1/250人,主要影响30-40岁的人,男女比例为3:1。该病例报告描述了由Carney综合征合并扩张型心肌病引起的心脏粘液瘤的心力衰竭患者。患者通过心脏移植成功治疗心力衰竭。
方法:这里,我们报告一例因卡尼综合征导致心脏黏液瘤合并扩张型心肌病的心力衰竭.一名35岁男性3年前因突发胸闷、呼吸急促入院。超声心动图提示粘液瘤,基因筛查和体格检查的结合证实了卡尼综合征伴有心脏粘液瘤。在对症处理后,他出院了.当时没有考虑手术干预。然而,患者的胸闷和气短症状加重,他回到了医院.纽约心脏协会的心脏功能四级得到证实,超声心动图显示扩张型心肌病伴有心脏粘液瘤。最终,患者的心力衰竭通过心脏移植成功治疗。
结论:卡尼综合征引起的心脏黏液瘤合并扩张型心肌病引起的心力衰竭可通过心脏移植解决。
BACKGROUND: Carney syndrome is an uncommon autosomal disorder closely linked to mutations in the PRKAR1A gene. Skin lesions are the most pronounced feature of Carney syndrome, affecting over 80% of individuals with this condition. This syndrome is characterized by a triad of myxomas, skin pigmentation, and endocrine hyperfunction, featuring multiple endocrine neoplasms with skin and cardiac involvement. Dilated cardiomyopathy, a primary cardiomyopathy, is defined as the dilation and impaired systolic function of the left or both ventricles. Its clinical presentation varies from being asymptomatic to heart failure or sudden cardiac death, making it a leading global cause of heart failure. Currently, Dilated cardiomyopathy has an estimated prevalence of 1/2500-1/250 individuals, predominantly affecting those aged 30-40 years, with a male-to-female ratio of 3:1. This
case report describes a heart failure patient with cardiac myxoma caused by Carney syndrome combined with dilated cardiomyopathy. The patient was successfully treated for heart failure by heart transplantation.
METHODS: Herein, we report a
case of heart failure due to Carney syndrome that resulted in cardiac myxoma combined with dilated cardiomyopathy. A 35-year-old male was admitted to the hospital three years ago because of sudden chest tightness and shortness of breath. Echocardiography indicated myxoma, and a combination of genetic screening and physical examination confirmed Carney syndrome with cardiac myxoma. Following symptomatic management, he was discharged. Surgical interventions were not considered at the time. However, the patient\'s chest tightness and shortness of breath symptoms worsened, and he returned to the hospital. A New York Heart Association grade IV heart function was confirmed, and echocardiography indicated the presence of dilated cardiomyopathy accompanied by cardiac myxoma. Ultimately, the patient\'s heart failure was successfully treated with heart transplantation.
CONCLUSIONS: Cardiac myxoma caused by Carney syndrome combined with heart failure caused by dilated cardiomyopathy can be resolved by heart transplantation.