Autosomal Recessive Atrial Dilated Cardiomyopathy With Standstill Evolution Associated With Mutation of Natriuretic Peptide Precursor A

Autosomal recessive atrial dilated cardiomyopathy with standstill evolution associated with mutation of Natriuretic Peptide Precursor A.

BACKGROUND Atrial dilatation and atrial standstill are etiologically heterogeneous phenotypes with poorly defined nosology. In 1983, we described 8-years follow-up of atrial dilatation with standstill evolution in 8 patients from 3 families. We later identified 5 additional patients with identical phenotypes: 1 member of the largest original family and 4 unrelated to the 3 original families. Al...

Autosomal Recessive Atrial Dilated Cardiomyopathy with Standstill Evolution Associated with Mutation of Natriuretic Peptide Precursor A Running title: Disertoro et al.; Atrial cardiomyopathy by NPPA mutation

Comparison between Brain Natriuretic Peptide and Calcitonin Gene Related Peptide in Children with Dilated Cardiomyopathy

Background: Dilated cardiomyopathy (DCM) is revealed with the left ventricular dilatation and systolic dysfunction. This study was performed to determine the level of Calcitonin Gene Related Peptide (CGRP) and Brain Natriuretic Peptide (BNP) in children with dilated cardiomyopathy and controls and comparison of these two biomarkers in patients. Materials and Methods: This case-control study was...

Evaluation of Serum Levels of N-terminal Pro Brain Natriuretic Peptide and Atrial Natriuretic Peptide in Neonates with Respiratory Distress

Background: Acute respiratory distress (ARD) is a critical respiratory failure due to lung injury of neonates leading to the clinical appearance of poor lung compliance. The aimed of the study was to evaluate the diagnostic values in differentiating respiratory from heart diseases with using of N-terminal pro brain natriuretic peptide (NT-pro BNP) and Atrial natriuretic peptide(ANP) in neonates...

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene

Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...