The rs1458038 variant near FGF5 is associated with poor response to calcium channel blockers among Filipinos.

ABSTRACT: Genetic variation is known to affect response to calcium channel blockers (CCBs) among different populations. This study aimed to determine the genetic variations associated with poor response to this class of antihypertensive drugs among Filipinos.One hundred eighty one hypertensive participants on CCBs therapy were included in an unmatched case-control study. Genomic deoxyribonucleic acid were extracted and genotyped for selected genetic variants. Regression analysis was used to determine the association of genetic and clinical variables with poor response to medication.The variant rs1458038 near fibroblast growth factor 5 gene showed significant association with poor blood pressure-lowering response based on additive effect (CT genotype: adjusted OR 3.41, P = .001; TT genotype: adjusted OR 6.72, P < .001).These findings suggest that blood pressure response to calcium channels blockers among Filipinos with hypertension is associated with gene variant rs1458038 near fibroblast growth factor 5 gene. Further studies are recommended to validate such relationship of the variant to the CCB response.

The Klotho Variant rs36217263 Is Associated With Poor Response to Cardioselective Beta-Blocker Therapy Among Filipinos.

A common drug used for hypertension among Filipinos is beta-blockers. Variable responses to beta-blockers are observed, and genetic predisposition is suggested. This study investigated the association of genetic variants with poor response to beta-blockers among Filipinos. A total of 76 Filipino adult hypertensive participants on beta-blockers were enrolled in an unmatched case-control study. Genotyping was done using DNA from blood samples. Candidate variants were correlated with clinical data using χ2 and logistic regression analysis. The deletion of at least one copy of allele A of rs36217263 near Klotho showed statistically significant association with poor response to beta-blockers (dominant; odds ratio (OR) = 3.89; P = 0.017), adjusted for diabetes and dyslipidemia. This association is observed among participants using cardioselective beta-blockers (crude OR = 5.60; P = 0.008) but not carvedilol (crude OR = 2.56; P = 0.67). The genetic variant rs36217263 is associated with poor response to cardioselective beta-blockers, which may become a potential marker to aid in the management of hypertension.

Prognostic impact of coronary collaterals in acute coronary syndrome (PICC-ACS): A meta-analysis of observational studies

INTRODUCTION: The coronary collateral circulation (CCC) is an alternative source of blood supply in coronary artery disease (CAD). The prognostic value of the presence of CCC at the time of acute coronary syndrome (ACS) is undefined with regards to hard outcomes, particularly reduction in mortality. The study's aim is to determine if the presence of CCC demonstrated by coronary angiography during an ACS is associated with a reduction in mortality.  METHODS: We conducted a systematic search of studies using MEDLINE, EMBASE, ScienceDirect, Scopus, and Cochrane Central Register of Controlled Trials databases in all languages and examined reference lists of studies. The inclusion criteria were 1) observational; 2) population included adults >19 years old with an acute coronary syndrome; 3) reported data on mortality in association with the presence or absence of CCC on angiography; and 4) should have controlled for confounders by using logistic regression analysis. Study quality was assessed using the Newcastle-Ottawa Quality Assessment Scale for observational studies. The outcome of interest was reduction in all-cause mortality, assessed using Mantel-Haenzel analysis of random effects to compute for risk ratios. RESULTS: Pooled analysis from 11 identified trials with 8,370 subjects showed that among patients with ACS who underwent coronary angiography, the presence of CCC showed a trend towards benefit in terms of mortality, but was not statistically different from those without CCC [RR 0.65, (95% CI 0.38 to 1.12), p CONCLUSION: The presence of CCC during ACS showed a trend towards mortality reduction. Further, among patients treated with PCI, those with CCC had an incrementally significant reduction in mortality compared to those without CCC.

Coarctation of the Aorta and a Parachute Mitral Valve in an Adult With Differential Cyanosis.

Differential cyanosis may occur in Eisenmenger physiology in the presence of a patent ductus arteriosus (PDA). We present a unique case of a 22-year-old male manifesting as cyanosis of the left upper extremity and both lower extremities, but with preservation of the right upper extremity. Work-up revealed multiple congenital defects, reminiscent of the Shone's complex. Survival into adulthood is presumed to be due to a PDA, at the expense of a right-to-left shunt. This report highlights the interplay of multiple anomalies documented on echocardiography and MRI, wherein diagnosis was made non-invasively.

Prevalence of coronary artery disease among adult patients with congenital heart disease who underwent coronary angiogram at the University of the Philippines-Philippine General Hospital from September 1998 to November 2011

OBJECTIVES: To determine prevalence of coronary artery disease (CAD) among adult patients with congenital heart disease (CHD), who underwent Coronary Angiography (CA) at the UP-PGH. Secondary: to determine severity of CAD lesions among these patients. METHODS: This is a descriptive study of adult patients with Congenital Heart Disease who underwent selective coronary angiography from September 1998 to December 2010 at the Philippine General Hospital. RESULTS: 52 adult patients with CHD underwent CA, Ten (19%) had angiographic evidence of coronary atherosclerosis visually. Significant CAD was found in 11.5% (n=6), all patients being ≥ 40 years old (mean age 54 ± 7.9 years; range 47 -61); 4 (66%) are female; Five (83%) have documented traditional CVD risk factors, mostly hypertensive (33%). None with significant CAD had cyanosis, 4 patients (66%) have typical chest pain. Majority of CHD's were simple (61%), mostly atrial septal defects (36%). Four (n=4)(70%) patients with Simple CHD, 2 (30%) patients with Intermediate CHD and none of those with Complex CHD had significant CAD. CONCLUSION: Prevalence of CAD among ACHD patients using CA in this study is 11.5%. This study supports the notion of routine CA among patients with ACHD ≥ 35 years old with traditional CV risk factors. Need for primary prevention of CAD and modification of traditional CV risk factors among these patients is emphasized, as important with the general population.

Endovascular coil embolization of multiple pulmonary arteriovenous malformations in Osler-Weber-Rendu disease: A challenging pursuit

Pulmonary arterionevous malformation (PAVMs) are a rare disorder with an incidence of 2-3/1,000,000 population. Approximately 70% of cases are associated with Osler-Weber-Rendu Disease. This intrapulmonary malformation causes hypoxemia and dyspnea largely attributed to the right to left shunting. We present a case of 25-year-old male who was admitted for fever and headaches with chronic history of epistaxis, hemoptysis, cyanosis and clubbing. Central cyanocis and clubbing were evident with hypoxemia of 65%. Heart sounds and peripheral pulses were normal. There was no systolic bruit noted in the lung bases. Multiple telangiectasias were seen in the truncal area and abdomen. Chest x-ray revealed multi-chambered cardiomegaly with no opacifications. CBC showed erythrocytosis with hematocrits of 0.68-0.78. Transthoracic echocardiography showed intact interatrial and interventricular septum, with contrast study suggestive of intrapulmonary shunting. CT angiography revealed PAVMs in bilateral lung fields. Pulmonary angiography demonstrated diffuse PAVMS in the left lung with 3 large PAVMs with multiple feeders > 7mm and smaller PAVMs in the Right lower lobe. The diagnosis was Multiple Pulmonary Arteriovenous Malformation, Osler-Weber-Rendu Disease, Brain Abscess Left Temporoparietal area. Craniotomy with brain abscess evacuation was done. Left pneumonectomy or Right lobectomy was considered but was deemed unacceptable due to high morbidity and mortality. Endovascular coil embolization was done on the 3 large fistulas on the Left lobe. Post procedure, his arterial oxygenation improved to 96%. He has no recurrence of hemoptysis, no headaches and with less episodes of shortness of breath 2 months on follow-up. Diagnosing the complex diffuse intrapulmonary malformations requires a high index of suspicion among patients with chronic cyanosis, chronic history of bleeding, and brain abscess. Treatment of this condition and its associated complications remain a big challenge and should be highly individualized.