Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy.

نویسندگان

  • Carolyn Y Ho
  • Begoña López
  • Otavio R Coelho-Filho
  • Neal K Lakdawala
  • Allison L Cirino
  • Petr Jarolim
  • Raymond Kwong
  • Arantxa González
  • Steven D Colan
  • J G Seidman
  • Javier Díez
  • Christine E Seidman
چکیده

BACKGROUND Myocardial fibrosis is a hallmark of hypertrophic cardiomyopathy and a proposed substrate for arrhythmias and heart failure. In animal models, profibrotic genetic pathways are activated early, before hypertrophic remodeling. Data showing early profibrotic responses to sarcomere-gene mutations in patients with hypertrophic cardiomyopathy are lacking. METHODS We used echocardiography, cardiac magnetic resonance imaging (MRI), and serum biomarkers of collagen metabolism, hemodynamic stress, and myocardial injury to evaluate subjects with hypertrophic cardiomyopathy and a confirmed genotype. RESULTS The study involved 38 subjects with pathogenic sarcomere mutations and overt hypertrophic cardiomyopathy, 39 subjects with mutations but no left ventricular hypertrophy, and 30 controls who did not have mutations. Levels of serum C-terminal propeptide of type I procollagen (PICP) were significantly higher in mutation carriers without left ventricular hypertrophy and in subjects with overt hypertrophic cardiomyopathy than in controls (31% and 69% higher, respectively; P<0.001). The ratio of PICP to C-terminal telopeptide of type I collagen was increased only in subjects with overt hypertrophic cardiomyopathy, suggesting that collagen synthesis exceeds degradation. Cardiac MRI studies showed late gadolinium enhancement, indicating myocardial fibrosis, in 71% of subjects with overt hypertrophic cardiomyopathy but in none of the mutation carriers without left ventricular hypertrophy. CONCLUSIONS Elevated levels of serum PICP indicated increased myocardial collagen synthesis in sarcomere-mutation carriers without overt disease. This profibrotic state preceded the development of left ventricular hypertrophy or fibrosis visible on MRI. (Funded by the National Institutes of Health and others.)

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Myocardial fibrosis delineation in late gadolinium enhancement images of Hypertrophic Cardiomyopathy patients using deep learning methods

Introduction: Accurate delineation of myocardial fibrosis in Late Gadolinium Enhancement on Cardiac Magnetic Resonance (LGE-CMR) has a crucial role in the assessment and risk stratification of HCM patients. As this is time-consuming and requires expertise, automation can be essential in accelerating this process. This study aims to use Unet-based deep learning methods to automate the mentioned ...

متن کامل

Diffuse myocardial fibrosis in pediatric hypertrophic cardiomyopathy

Background Fibrosis is a common end-point in pathological processes. It is unclear, however, if diffuse fibrosis occurs early in the pathogenesis of hypertrophic cardiomyopathy (HCM). The purpose of this study was to evaluate the presence of diffuse myocardial fibrosis in children and adolescents with HCM using quantification of T1 changes late after gadolinium administration and to assess for ...

متن کامل

Myocardial fibrosis in desmin-related hypertrophic cardiomyopathy

Desmin-related myopathy (DRM) is known to cause different types of cardiomyopathy. Late gadolinium enhancement cardiovascular magnetic resonance (CMR) has been shown to identify fibrosis in ischemic and non-ischemic cardiomyopathies. We present a rare case of desmin-related hypertrophic cardiomyopathy, CMR revealed fibrosis in the lateral wall of the left ventricle. CMR is superior to conventio...

متن کامل

Transapical myectomy for severe mid-ventricular obstructive hypertrophic cardiomyopathy.

imaging, and its surgical management. Am J Cardiol 2013;111:1677–1679. 19. Harrigan CJ, Peters DC, Gibson CM, Maron BJ, Manning WJ, Maron MS, Appelbaum E. Hypertrophic cardiomyopathy: quantification of late gadolinium enhancement with contrast-enhanced cardiovascular MR imaging. Radiology 2011;258:128–133. 20. Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 yea...

متن کامل

Hemodynamic Consequences of Hypertrophic Cardiomyopathy with Midventricular Obstruction: Apical Aneurysm and Thrombus Formation

BACKGROUND Hypertrophic cardiomyopathy (HCM) with midventricular hypertrophy is an uncommon phenotypic variant of the disease. Midventricular hypertrophy predisposes to intracavitary obstruction and downstream hemodynamic sequelae. CASE REPORT We present a case of HCM with midventricular hypertrophy and obstruction diagnosed after a CT scan of the abdomen incidentally revealed a filling defec...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • The New England journal of medicine

دوره 363 6  شماره 

صفحات  -

تاریخ انتشار 2010