Dataset Information

Chasing the ACE of hearts.

ABSTRACT: A case study of a patient presenting with acute pulmonary oedema, dynamic ECG changes and a rise in cardiac biomarkers with no evidence of myocardial infarction. The clinical course followed a dynamic and inflammatory disease process with evidence of sarcoidosis on tissue histology. The patient had an excellent clinical response to corticosteroid therapy with minimal evidence of hyperenhancement (focal fibrosis) on cardiac MRI at 6 months. The case highlights the challenges in making a new diagnosis of sarcoidosis where involvement appears limited to the heart and lymphatic system.

SUBMITTER: D'Silva A

PROVIDER: S-EPMC3702877 | biostudies-other | 2013 Jun

REPOSITORIES: biostudies-other

ACCESS DATA

Publications

Chasing the ACE of hearts.

D'Silva Andrew A D'Silva Andrew A Jassim Imad I Greenwood John J Grosser Konrad K

BMJ case reports 20130625

A case study of a patient presenting with acute pulmonary oedema, dynamic ECG changes and a rise in cardiac biomarkers with no evidence of myocardial infarction. The clinical course followed a dynamic and inflammatory disease process with evidence of sarcoidosis on tissue histology. The patient had an excellent clinical response to corticosteroid therapy with minimal evidence of hyperenhancement (focal fibrosis) on cardiac MRI at 6 months. The case highlights the challenges in making a new diagn ...[more]

PMID: 23814091

Similar Datasets

Project description:BackgroundAnalysis of existing mutations of Angiotensin-I-Converting Enzyme (ACE) led us to hypothesize that the carriers of damaging ACE mutations (accompanied by low ACE levels) could be at risk for the development of late-onset Alzheimer's disease (AD).Methodology/principal findingsWe quantified blood ACE levels in EDTA-containing plasma from 15 patients with 11 different heterozygous ACE mutations and estimated the effects of these mutations on ACE phenotypes, using a set of mAbs to ACE and two ACE substrates. We confirmed prior observations that the relatively frequent Y215C mutation in the N domain of ACE (present in ~1% of the population) is associated with both Alzheimer's disease (AD) and reduced plasma levels of ACE (~50% of controls), indicating that it likely results in a transport-deficient protein. In addition, we identified another 4 mutations in both ACE domains (M118T, C734Y, V992M and V997M) which are also associated with decreased ACE levels in the blood, and, thus, could be putative risk factors for late-onset AD. One of these mutations, C734Y, is likely transport-deficient, while the other mutations appear to influence ACE catalytic properties. The precipitation of mutant M118T by mAb 2D1 and ACE mutant C734Y by mAb 3F10 increased 2-3-fold compared to native ACE, and therefore, these mAbs could be markers of these mutations. Also, we identified a mutation I989T, which is associated with increased ACE levels in the blood.Conclusions/significanceConducting a systematic analysis of blood ACE levels in patients with ACE mutations holds promise for identifying individuals with low blood ACE levels. Such individuals may be at increased risk for late-onset AD. The patients with transport-deficient ACE mutations may benefit from therapeutic treatment with a combination of chemical and pharmacological chaperones and proteasome inhibitors, as was demonstrated previously using a cell model of the transport-deficient ACE mutation, Q1069R [Danilov et al, PLoS One, 2010].

Dataset Information

Chasing the ACE of hearts.

Publications

Chasing the ACE of hearts.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets