Mahesh Kappanayil

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BACKGROUND Vascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood. We describe a syndrome of lethal arteriopathy associated with a novel, identical mutation in the fibulin 4 gene (FBLN4) in a unique cohort of infants from South India. METHODS Clinical characteristics,(More)
INTRODUCTION Three-dimensional. (3D) printing is an innovative manufacturing process that allows computer-assisted conversion of 3D imaging data into physical "printouts" Healthcare applications are currently in evolution. OBJECTIVE The objective of this study was to explore the feasibility and impact of using patient-specific 3D-printed cardiac(More)
AIM To determine the frequency of chromosomal aberrations particularly 22q11 deletion in Indian children ≤2 years with different types of conotruncal malformations and their association with abnormal aortic arch. Additionally, extracardiac features were also studied. METHODS Conventional cytogenetic and fluorescence in situ hybridization analyses were(More)
OBJECTIVES Complex congenital heart defects that present earlier in life are sometimes channelled towards single-ventricle repair, because of anatomical or logistic challenges involved in two-ventricle correction. Given the long-term functional and survival advantage, we have been consciously exploring the feasibility of a biventricular repair in these(More)
OBJECTIVE To describe the spectrum of congenital heart disease in children with Down syndrome and their cytogenetic profile (and that of parents of those with translocation), and thyroid profile. METHODS A cross sectional study was conducted in 418 consecutive patients with Down syndrome attending the Department of Pediatric Genetics from a tertiary care(More)
Arterial tortuosity syndrome is a recently defined rare genetic syndrome with autosomal recessive inheritance characterized by elongation, tortuosity, stenosis, and aneurysm formation of major arteries. These images are of a 1-year-old girl with arterial tortuosity syndrome. She was a first-born child of nonconsanguineous parentage and was referred with(More)
BACKGROUND The International Quality Improvement Collaborative (IQIC) for Congenital Heart Surgery in Developing Countries was initiated to decrease mortality and major complications after congenital heart surgery in the developing world. OBJECTIVE We sought to assess the impact of IQIC on postoperative outcomes after congenital heart surgery at our(More)
We present the imaging findings of a newly identified lethal arteriopathy associated with a novel mutation in the gene encoding fibulin-4, occurring in a distinct community from southern India. A total of 31 children from a distinct population subgroup who presented with characteristic arterial dilatation and tortuosity were studied. All children except one(More)
Background Units providing specialised, advanced care for children and adults with CHD are few and far-in-betwen in developing nations, despite having the greater proportion of the world’s burden of CHD. CHD scores low among the health care priorities of the State in most low-medium income countries (LMIC).However, centers of excellence in CHD care have(More)
Background Populous developing nations like India have a huge disease burden of CHD, many of the patients being older, with uncorrected or partially palliated complex lesions. Despite its powerful diagnostic advantages in this specific clinical milieu, cardiac MRI is yet to find widespread acceptance, the reasons being poor awareness regarding CMR and its(More)