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A Constellation of Cardiac Anomalies: Beyond Shone's Complex.

ABSTRACT: Shone's anomaly is a very rare congenital cardiac malformation characterized by four serial obstructive lesions of the left side of the heart (i) Supravalvular mitral membrane (ii) parachute mitral valve (iii) muscular or membranous subaortic stenosis and (iv) coarctation of aorta. We report a unique presentation of Shone's complex in a 14-year-old adolescent male. In addition to the four characteristic lesions the patient had bicuspid aortic valve, aneurysm of sinus of valsalva, patent ductus arteriosus, ventricular septal defect, persistent left superior vena cava opening into coronary sinus and severe pulmonary artery hypertension. This case report highlights the importance of a strong clinical suspicion of the coexistence of multiple congenital cardiac anomalies in Shone's complex and the significance of a careful comprehensive echocardiography.

SUBMITTER: Ganju NK

PROVIDER: S-EPMC4879801 | biostudies-other | 2016 Jan-Mar

REPOSITORIES: biostudies-other

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A Constellation of Cardiac Anomalies: Beyond Shone's Complex.

Ganju Neeraj K NK Kandoria Arvind A Thakur Suresh S Ganju Sunite A SA

Heart views : the official journal of the Gulf Heart Association 20160101 1

Shone's anomaly is a very rare congenital cardiac malformation characterized by four serial obstructive lesions of the left side of the heart (i) Supravalvular mitral membrane (ii) parachute mitral valve (iii) muscular or membranous subaortic stenosis and (iv) coarctation of aorta. We report a unique presentation of Shone's complex in a 14-year-old adolescent male. In addition to the four characteristic lesions the patient had bicuspid aortic valve, aneurysm of sinus of valsalva, patent ductus a ...[more]

PMID: 27293526

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Project description:Therapeutic monoclonal antibodies have transformed medicine, especially with regards to treating cancers and disorders of the immune system. More than 50 antibody-derived drugs have already reached the clinic, the majority of which target cytokines or cell-surface receptors. Unfortunately, many of these targets have pleiotropic functions: they serve multiple different roles, and often not all of these roles are disease-related. This can be problematic because antibodies act throughout the body, and systemic neutralization of such targets can lead to safety concerns. To address this, we have developed a strategy whereby an antibody's ability to recognize its antigen is modulated by a second layer of control, relying on addition of an exogenous small molecule. In previous studies, we began to explore this idea by introducing a deactivating tryptophan-to-glycine mutation in the domain-domain interface of a single-chain variable fragment (scFv), and then restoring activity by adding back indole to fit the designed cavity. Here, we now describe a novel computational strategy for enumerating larger cavities that can be formed by simultaneously introducing multiple adjacent large-to-small mutations; we then carry out a complementary virtual screen to identify druglike compounds to match each candidate cavity. We first demonstrate the utility of this strategy in a fluorescein-binding single-chain variable fragment (scFv) and experimentally characterize a triple mutant with reduced antigen-binding (Rip-3) that can be rescued using a complementary ligand (Stitch-3). Because our design is built upon conserved residues in the antibody framework, we then show that the same mutation/ligand pair can also be used to modulate antigen-binding in an scFv build from a completely unrelated framework. This set of residues is present in many therapeutic antibodies as well, suggesting that this mutation/ligand pair may serve as a general starting point for introducing ligand-dependence into many clinically relevant antibodies.

Dataset Information

A Constellation of Cardiac Anomalies: Beyond Shone's Complex.

Publications

A Constellation of Cardiac Anomalies: Beyond Shone's Complex.

Similar Datasets

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