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Cerebral and Coronary Vasculature in Disease Associations and Dissociations in the South Indian Population.

ABSTRACT: Cerebrovascular accidents constitute the most common cause of disability all over the world. In India prevalence rate is 545 per 100000 and mortality rate is around 7.5 per thousand. Therefore the authors undertook a study on patients who underwent coronary artery bypass surgery (CABG). They were investigated for clinical and/or radiological evidence of cerebrovascular disease (CVD) with the aim to decide on early neurological intervention.210 patients who had undergone CABG were evaluated with neck vessel Doppler using high resolution duplex scanner system and computed tomography (CT) scan as well as MR angiogram (MRA) in addition to assessment of co morbid risk factors.91% of patients who had undergone CABG had radiological evidence of CVD. The most common risk associated with CAD and CVD was Hypertension (HT), DM, dyslipidemia and combined HT and DM in that order. Neck vessels were normal in 59%. Significant disease was found in only 7.2%. Internal carotids were abnormal in 82%. Infarcts were seen in 82.1%.This study reveals patients with CAD have a high degree of asymptomatic CVD. It is mostly due to small vessel disease including internal carotids but not so much with large vessels. Therefore, patients with CAD carry a high risk of vascular cognitive dysfunction. This can be reduced by effective management of the systemic risk factors. Screening for large vessel disease which is commonly done is likely to give a false sense of security.As against western population Indians seem to have small and medium sized vessels disease in the setting of CAD.

SUBMITTER: Srinivasan K

PROVIDER: S-EPMC5488553 | biostudies-other | 2017 Jul-Sep

REPOSITORIES: biostudies-other

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Project description:BACKGROUND: Parental consanguinity is a risk factor for congenital heart disease (CHD) worldwide, suggesting that a recessive inheritance model may contribute substantially to CHD. In Bangalore, India, uncle-niece and first cousin marriages are common, presenting the opportunity for an international study involving consanguinity mapping of structural CHD. We sought to explore the recessive model of CHD by conducting a genome-wide linkage analysis utilizing high-density oligonucleotide microarrays and enrolling 83 CHD probands born to unaffected consanguineous parents. METHODOLOGY/PRINCIPAL FINDINGS: In this linkage scan involving single nucleotide polymorphism (SNP) markers, the threshold for genome-wide statistical significance was set at the standard log-of-odds (LOD) score threshold of 3.3, corresponding to 1995ratio1 odds in favor of linkage. We identified a maximal single-point LOD score of 3.76 (5754ratio1 odds) implicating linkage of CHD with the major allele (G) of rs1055061 on chromosome 14 in the HOMEZ gene, a ubiquitously expressed transcription factor containing leucine zipper as well as zinc finger motifs. Re-sequencing of HOMEZ exons did not reveal causative mutations in Indian probands. In addition, genotyping of the linked allele (G) in 325 U.S. CHD cases revealed neither genotypic nor allele frequency differences in varied CHD cases compared to 605 non-CHD controls. CONCLUSIONS/SIGNIFICANCE: Despite the statistical power of the consanguinity mapping approach, no single gene of major effect could be convincingly identified in a clinically heterogeneous sample of Indian CHD cases born to consanguineous parents. However, we are unable to exclude the possibility that noncoding regions of HOMEZ may harbor recessive mutations leading to CHD in the Indian population. Further research involving large multinational cohorts of patients with specific subtypes of CHD is needed to attempt replication of the observed linkage peak on chromosome 14. In addition, we anticipate that a targeted re-sequencing approach may complement linkage analysis in future studies of recessive mutation detection in CHD.

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Cerebral and Coronary Vasculature in Disease Associations and Dissociations in the South Indian Population.

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