A rare missense mutation in MYH6 confers high risk of coarctation of the aorta

نویسندگان

  • Thorsteinn Bjornsson
  • Rosa B. Thorolfsdottir
  • Gardar Sveinbjornsson
  • Patrick Sulem
  • Gudmundur L. Norddahl
  • Anna Helgadottir
  • Solveig Gretarsdottir
  • Audur Magnusdottir
  • Ragnar Danielsen
  • Emil L. Sigurdsson
  • Berglind Adalsteinsdottir
  • Sverrir I. Gunnarsson
  • Ingileif Jonsdottir
  • David O. Arnar
  • Hrodmar Helgason
  • Tomas Gudbjartsson
  • Daniel F. Gudbjartsson
  • Unnur Thorsteinsdottir
  • Hilma Holm
  • Kari Stefansson
چکیده

Thorsteinn Bjornsson, Rosa B. Thorolfsdottir, Gardar Sveinbjornsson, Patrick Sulem, Gudmundur L. Norddahl, Anna Helgadottir, Solveig Gretarsdottir, Audur Magnusdottir, Ragnar Danielsen, Emil L. Sigurdsson, Berglind Adalsteinsdottir, Sverrir I. Gunnarsson, Ingileif Jonsdottir, David O. Arnar, Hrodmar Helgason, Tomas Gudbjartsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Hilma Holm, Kari Stefansson

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

Aortic Dissection of Unknown Origin in a Young Patient: A Case Report

Aortic dissection occurs when a tear develops in the wall of the aorta, which is rare in the young population. This fatal disorder is hard to diagnose, especially in young patients. We present the case of aortic dissection in a 15-year-old boy referred to the Emergency Department of Yazd University of Medical Sciences in November 2015. The patient presented to our department with sudden acute c...

متن کامل

Acquired Infrarenal Abdominal Aortic Coarctation: Treatment with Percutaneous Self Expandable Stent

Abdominal aortic coarctation is an extremely rare vascular pathology. Its etiology can be congenital or acquired. Here we present a case of acquired infrarenal abdominal coarctation in a 66-year-old woman who complained of low back and legs pain. She had no signs of resting lower limb ischemia, with diminished distal pulses and normal blood pressure in upper and lower extremities. Magnetic reso...

متن کامل

COARCTATION OF THE AORTA Negligence in Diagnosis Four (Case- Reports).

SUMMARY: Coarctation of the aorta is a congenital heart disease consisting 7% of total congenital heart diseases. Its prevalence in men is 2 times more than that in women. This disease is associated with other congenital diseases. including aortic bicuspid valve, the linkage between two ventricles and arteriole channel It is often seen in the Turner syndrome which may lead to complications su...

متن کامل

A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families

Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It  has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...

متن کامل

Blood Flow Simulation in an Aorta with a mild coarctation Using Magnetic Resonance Angiography and Finite Volume Method

Coarctation of the aorta is one of the five main congenital cardiovascular failures, accounting for 6–8 percent of these failures. This research aimed to simulate the blood flow of a seventeen-year-old male teen with a mild coarctation at one-third of his aorta's descending branch. The simulation was performed by extracting the domain and the input pulsatile velocity signal as the boundary cond...

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:

دوره   شماره 

صفحات  -

تاریخ انتشار 2017