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- Reclassification of the intermediate group classified according to heartscore taking in considertaion individual genetic predisposition to coronary artery diseasePublication . Mendonça, M.; Pereira, A.; Rodrigues, R.; Neto, M.; Sousa, A.C.; Freitas, S.; Freitas, C.; Freitas, A.I.; Borges, S.; Palma dos Reis, R.Introduction: Cardiovascular risk stratification has included traditional cardiovascular risk factors (TRF) including tobacco, cholesterol and blood pressure adjusted to age and sex. The utility of genetic risk scores (GRS) as predictors of cardiovascular risk remains inconclusive. Objective: We intended to evaluate the ability of a multilocus GRS within the intermediate risk subgroup, defined by the European Heart score, to add predictive power for the association with coronary artery arterial disease (CAD). Methods: After applying European SCORE (ES) stratification to a total population of 2703 Portuguese individuals, 639 individuals with 59.0 ± 4.3 years were considered to be at intermediate risk subgroup (2 Results: GRS was an independent predictor for CAD (OR=2.411; p<0.0001). Diabetes mellitus (OR=3.196;p<0.0001), arterial hypertension (OR=2.201; p=0.003) and smoking (OR=3.148; p<0.0001) were also significantly associated with CAD. AUC increased from 0.694 to 0.734 after adding GRS to TRF. When discriminated by tertiles of GRS, the AUC for TRF was maximum for the 2nd tertile GRS [AUC (TRF)=0.734] and lower for the 1st and 3rd tertiles (AUC =0.673 and AUC =0.671, respectively). NRI showed better increase in the intermediate risk subgroup with a 35.2% interpreted as the roportion of patients reclassified to a more appropriate risk category, and 29.4% on the lower risk. Conclusion: In our population, the GRS increased the predictive value of TRF in the subgroup of patients at intermediate risk by the European Score. The predictive value of TRF is lower in patients with higher GRS. In this subgroup, the inclusion of genotyping may be considered for better stratification of cardiovascular risk.
- Incomplete Shone’s complex: adult age diagnosisPublication . Rodrigues, Ricardo C.; Correia, André; Serrão, Gomes; Faria, Paula; Gomes, Susana; Pereira, DécioA 25-year-old male with previous history of heart surgery was referred for a control echocardiogram. He had been operated when he was 5 years old for reparation of aortic coarctation and the excision of a subaortic membrane, and was then lost to follow-up. No other changes were detected previously or during surgery. The patient was clinically stable without medication and the physical exam was unremarkable. The echocardiogram showed normal left ventricular function, but bicuspid aortic valve (figure 1 A), conditioning mild aortic stenosis, and a parachute mitral valve (figure 1 B, C) with single papillary muscle (figure 1 D, E – arrow) were present, with slight increase in transmitral velocity and mild regurgitation. No residual coarctation was present. Shone’s complex is a rare congenital heart disease consisting of several levels of left-sided obstructive lesions including supravalvar mitral ring, parachute mitral valve subaortic stenosis and coarctation of aorta, being classified as complete (if all levels are present) or incomplete (if only 2 or 3 lesions are present). Our patient had a previous surgical intervention and no correction was made for two undiagnosed lesions. Furthermore, the main critical problem associated with this condition appears to be mitral valve obstruction which was not significant in our patient. A conservative approach was decided and at 3-year follow-up no events occurred. This case highlights the importance of exhaustive preoperative echocardiographic evaluation and reminds us that, in the presence of two-levels of left-side cavities obstruction, other possible related anatomical lesions must be excluded.
- Trombose de stent em tronco da coronária esquerdaPublication . Rodrigues, Ricardo C.; Coreia, André; Serrão, Marco Gomes; Pereira, Décio
- Genetic polymorphisms and coronary artery disease in the portuguese population: the GENEMACOR StudyPublication . Pereira MD PHDs, A; Mendonca, M; Neto, M; Rodrigues, R; Monteiro, Joel; Sousa, A C; Rodrigues, M; Guerra, G; Borges, S; Palma dos Reis, RMultiple studies have showed an association between genetic polymorphisms and the risk of coronary artery disease (CAD). Initially, studies focused mainly in variants acting in pathophysiological axis of CAD or its risk factors. Genome-Wide Association Studies (GWAS) revealed other genes that, besides having an unknown mechanism, are statistically significant. The importance of these in the development of CAD in the Portuguese population is unknown. Objective: Analyze the genetic polymorphisms associated with the development of CAD in a Portuguese population. Methods: We performed a case-control study with 1321 consecutive coronary patients (mean age 53.4 ± 8.1 years, 78.8% male) and 1148 controls (adjusted for age and sex) selected from GENEMACOR Study, an ongoing study designed to analyze the genetic profile of a Portuguese population. We evaluated, in both groups, 29 genetic variants previously associated with CAD: ACE I/D, AGT235 M/T, ATIR A/C, MTHFR C/T and 1298 A/C, PON192 Q/R and 55 L/M,LPA T/C, APO E, Locus 9p21.3 (rs1333049), CDKN2B (rs4977574), GJA4 C/T, PCSK9 A/G, TAS2R50 A/G, KIF6 C/T, IGF2BP2 G/T, ADAMTS7 A/G, MC4R T/C, PPARG Pro12 Ala, ZNF259 C/G, SMAD3 C/T, MIA3 C/A, MTHFD1L A/G, SLC30A8 C/T, TCF7L2 C/T, HNF4 C/G, FTO A/C and ADIPOQ C/G. Allele and genotypic frequencies of individuals with and without CAD were compared and the strength of association was expressed by the OR as well as by CI 95%. Results: The variants rs4340 (ACE I/D), rs266729 (ADIPOQ C/G), rs458560 (PON55 L/M), rs429358 (APOE2), LPA T/C, rs1333049 (locus 9p21.3) and rs4977574 (CDKN2B A/G) were significantly associated with CAD (p<0.05) (Table). Conclusions: In our population, the genetic polymorphisms significantly related to CAD were: ACE, associated with hypertension; ADIPOQ, associated with obesity; PON55, associated with oxidation; APOE and LPA, associated with dyslipidemia and finally the locus 9p21.3 with a unclear mechanism so far.