RESUMO
V122I genotype variant (pV142I) is the most common hereditary transthyretin amyloidosis (hATTR) in the USA, with 3-3.5% of African-Americans being the carriers of this mutation. We aimed to compare baseline clinical features, cardiac parameters, and mortality in V122I-ATTR with the wild-type ATTR and other hATTR subtypes. We systematically searched PubMed/Medline and Google Scholar databases to identify relevant studies from inception to 10th September, 2020 reporting phenotypic, echocardiographic, and/or laboratory parameters in patients with hereditary and wild types of cardiac amyloidoses. A total of 2843 patients from 7 individual studies with 67-100% males and an overall follow-up duration of 51.6 ± 30.4 months were identified. The mean age of diagnosis among wild-type ATTR patients was 77 years, followed by 71.2 and 65 years in V122I and T60A group patients, respectively. V122I patients were mostly black, had a poor quality of life, and highest mortality risk compared with other subtypes. Merely, the presence of V122I mutation was identified as an independent predictor of mortality. V30M subtype correlated with the least severe cardiac disease and a median survival duration comparable with T60A subtype. V122I ATTR is an aggressive disease, prevalent in African-Americans, and is associated with a greater morbidity and mortality, which is partly attributed to its misdiagnosis and/or late diagnosis. Current advances in non-invasive studies to diagnose hATTR coupled with concurrent drug therapies have improved quality of life and provide a survival benefit to these patients.
Assuntos
Neuropatias Amiloides Familiares , Cardiomiopatias , Pré-Albumina/genética , Idoso , Neuropatias Amiloides Familiares/complicações , Cardiomiopatias/diagnóstico , Feminino , Genótipo , Humanos , Masculino , Qualidade de VidaRESUMO
BACKGROUND: The effect of standardizing an insertion and removal protocol for pVAD devices has not been previously described. OBJECTIVES: We sought to evaluate clinical outcomes in patients who underwent pVAD insertion pre- and post-protocol standardization. METHODS: All patients who underwent pVAD insertion that remained in place at index procedure completion between January 2017 and September 2023 at a single academic center for both high-risk PCI and cardiogenic shock indications were included in the study. The primary outcome was the incidence of limb ischemia and major bleeding before and after the protocol initiation. Secondary outcomes included in-hospital and 30-day MACCE rate (death, myocardial infarction, stroke, emergent CABG), and how often the operators followed the protocol. RESULTS: A total of 89 patients had pVAD left in place (29 pre-protocol initiation and 60 post-protocol initiation). There was a significant decrease in incidence of limb ischemia post-protocol initiation compared to pre (17.2 % vs 1.7 %, p = 0.01) but no difference in bleeding incidence (13.8 % vs 20.0 %, p = 0.47). Adherence increased in all components of the protocol except for right heart catheterization. CONCLUSION: Standardization of an insertion and removal protocol for pVAD devices led to a statistically significant decrease in limb ischemia in a high-risk patient population.
RESUMO
Aspirin resistance (AR) commonly refers to the concept of reduced aspirin efficacy in preventing cardiovascular disease and platelet inhibition. Obesity increases the risk of heart disease three- to four-fold and has been associated with AR. Aspirin is used as a tool for both primary and secondary prevention, but recent studies suggest that its lack of efficacy for primary prevention is partly attributable to obesity. Several mechanisms have been described that contribute to AR in obese patients using pharmacokinetics and pharmacodynamics. AR may be attenuated through weight loss, alternative dosing regimens, and different drug formulations. With the global rise of obesity, it is imperative to find preventive therapies that adequately address atherosclerotic cardiovascular disease (ASCVD) risk in this population.
RESUMO
Cangrelor is a relatively new antiplatelet drug that has been approved for use as an adjunct therapy to percutaneous coronary intervention (PCI) to decrease peri-procedural myocardial infarction (MI), coronary revascularization, and stent thrombosis. Cangrelor is an adenosine triphosphate analogue with a pharmacokinetic mechanism based on a reversible, dose-dependent inhibition adenosine diphosphate (ADP)-induced platelet aggregation. This drug has lately been in the spotlight as a possible bridge therapy for anti-platelet medication prior to cardiac and non-cardiac surgeries. Platelet function is usually restored within sixty minutes of cessation of therapy, thereby decreasing the risk of bleeding while providing adequate pre-procedural coverage to reduce ischemic events. This manuscript reviews the literature on cangrelor and summarizes its role as a peri-procedural bridge.
RESUMO
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic blood disorder that leads to abnormal bleeding due to absent capillaries and multiple abnormal blood vessels known as arteriovenous malformations. A feature of HHT is high-output heart failure due to multiple arteriovenous malformations. High-output heart failure can lead to recurrent epistaxis Kiesselbach area syndrome (REKAS), further exacerbating heart failure through increased blood loss and resultant anemia. We report a patient with HHT who presented with high-output heart failure contributing to REKAS. In patients with REKAS, we propose if anemia is present, REKAS can be avoided by correcting the anemia by increasing the hemoglobin level to greater than 9 to 10 g/dL. This decreases hyperdynamic circulation and reduces pressure in the blood vessels of the nose.
RESUMO
Shprintzen-Goldberg syndrome (S-G) is a rare connective tissue disorder characterised by craniosynostosis, craniofacial dysmorphism, skeletal, cardiovascular, neurological, and other abnormalities. We herein present a case of a five-year-old Indian child who presented to our clinic with reducible umbilical hernia since birth, mental retardation, and delayed developmental milestones. After meticulous clinical examination with subsequent integration of clinical findings and investigations, we diagnosed her to possibly have Shprintzen-Goldberg syndrome. An attempt to compare the findings of our index case with the classical features as described by Greally et al. has been made. Given the rarity of this syndrome and the paucity of medical literature measuring the magnitude of this condition in the Indian population, this case serves to promote awareness of this rare entity.