Gender-Based Differences in Outcomes After Percutaneous Coronary Intervention of Chronic Total Occlusions (Insights from a Large Single-Center Registry).

Patients who undergo percutaneous coronary intervention (PCI) of chronic total occlusions (CTO) are at a high risk for both periprocedural and post-procedural adverse events. Whether gender-differences in outcomes exist after PCI of CTO remain unclear. Therefore, we sought to investigate gender-based differences in outcomes after CTO-PCI. All patients who underwent elective CTO intervention from January 2012 to December 2017 at The Mount Sinai Hospital (New York, New York) were included. The primary end point of interest was major adverse cardiac events defined as the composite of death, myocardial infarction, and target vessel revascularization at 1 year of follow-up. A total 1,897 patients were included, of which 368 were women (19.4%). Mean follow-up time was 174 days. Women were older (66.8 ± 11.3 years vs 62.6 ± 10.9 years) and had a higher prevalence of co-morbidities including diabetes and chronic kidney disease. There were no significant differences in the rate of successful CTO-PCI between groups (73.5% vs 73.2%, p = 0.91). Women had higher rates of procedure-related complications including increased risk of post-procedural bleeding (4.1% vs 1.8%, p = 0.009) and acute vessel closure (1.36% vs 0.2%, p = 0.009). In multivariable-adjusted analysis, female gender was associated with higher risk of major adverse cardiac event and target vessel revascularization at 1 year. In conclusion, in this large single-center study, women who underwent percutaneous CTO revascularization experienced higher rates of periprocedural complications and worse clinical outcomes at 1 year compared with men. Further research is needed to address disparities in gender-specific outcomes of CTO-PCI.

Impact of Clinical Presentation on Outcomes After Rotational Atherectomy in Patients Who Underwent Percutaneous Coronary Intervention.

Rotational atherectomy (RA) is widely used in the percutaneous treatment of heavily calcified coronary artery lesions in patients with chronic coronary syndromes (CCS). However, the safety and efficacy of RA in acute coronary syndrome (ACS) is not well established and is considered a relative contraindication. Therefore, we sought to evaluate the efficacy and safety of RA in patients presenting with non-ST-elevation myocardial infarction (NSTEMI), unstable angina (UA), and CCS. Consecutive patients who underwent percutaneous coronary intervention with RA between 2012 and 2019 at a tertiary single center were included. Patients presenting with ST-elevation myocardial infarction (MI) were excluded. The primary end points of interest were procedural success and procedural complications. The secondary end point was the risk of death or MI at 1 year. A total of 2,122 patients who underwent RA were included, of whom 1,271 presented with a CCS (59.9%), 632 presented with UA (29.8%), and 219 presented with NSTEMI (10.3%). Although an increased rate of slow-flow/no-reflow was noted in the UA population (p = 0.03), no significant difference in procedural success or procedural complications, including coronary dissection, perforation, or side-branch closure, was noted (p = NS). At 1 year, there were no significant differences in death or MI between CCS and non-ST-elevation ACS (NSTE-ACS: UA + NSTEMI; adjusted hazard ratio 1.39, 95% confidence interval 0.91 to 2.12); however, patients who presented with NSTEMI had a higher risk of death or MI than CCS (adjusted hazard ratio 1.79, 95% confidence interval 1.01 to 3.17). Use of RA in NSTE-ACS was associated with similar procedural success without an increased risk of procedural complications compared with patients with CCS. Although patients presenting with NSTEMI remained at higher risk of long-term adverse events, RA appears to be safe and feasible in patients with heavily calcified coronary lesions presenting with NSTE-ACS.

Determinants of Seattle Angina Questionnaire in Multivessel Disease Patients Undergoing Percutaneous Coronary Intervention: Insights from a Single-Center Study.

INTRODUCTION: The Seattle Angina Questionnaire (SAQ-7) quantifies the impact of angina on patient functionality and quality of life. There is scarce data on the impact of social determinants and comorbidities on SAQ-7 in patients undergoing percutaneous coronary intervention (PCI) with planned staged PCI. METHODS: Patients completed a SAQ-7 before each PCI. Multivariable regression analysis was performed to study the impact of social determinants, comorbidities, and procedural characteristics on SAQ-7 scores at index PCI and at the time of the staged PCI. RESULTS: 531 patients were studied. Female sex, non-White race, coronary artery bypass graft history (CABG), and chronic lung disease were associated with lower baseline SAQ-7 scores. Overall, SAQ-7 increased between index procedure and staged PCI (11.9 ± 23.4). Body mass index (BMI) and the treatment of bifurcation lesions were independently associated with improvement of SAQ-7 between PCIs. Post-intervention, neither sex nor race was independently associated with changes in SAQ-7 scores. CONCLUSION: Different disparities and comorbid factors affect SAQ-7 before and after PCI. After revascularization, sex and race were not independent predictors of SAQ-7 improvement.

Effects of lowering dietary protein content without or with increased protein-bound and feed-grade amino acids supply on growth performance, body composition, metabolism, and acute-phase protein of finishing pigs under daily cyclic heat stress.

This study investigated the effects of a low-protein diet with or without an increase in dietary protein and feed-grade amino acids (AAs) on the growth performance, body composition, metabolism, and serum acute-phase proteins of finishing pigs reared in thermoneutrality or cyclic heat stress conditions. A total of 90 gilts (67.7 ± 6.2 kg) were distributed in a 2 × 3 factorial arrangement (two ambient temperatures and three diets). Ambient temperatures (AT) were thermoneutral (TN, 22 °C for 24 h) and cyclic heat stress (CHS, 12 h to 35 °C and 12 h to 22 °C). The evaluated diets (D) were high crude protein (HP); low CP-free AA-supplemented diets (LPAAs); low CP-free AA-supplemented diets and digestible Lys level (+20%), and Lys:AA ratios above recommendations (LPAA+). The experimental period lasted 48 d (two experimental phases: days 0-27 and days 28-48, respectively). CHS pigs had higher skin temperature (P < 0.05) than TN pigs. Pigs in CHS had higher rectal temperature (P < 0.05) than TN pigs until day 38 but similar (P > 0.10) to TN pigs from 38 to 45 d. For the entire experiment, CHS pigs had lower (P < 0.05) final BW, average daily gain and daily feed intake, net energy intake, body lipid, bone mineral, lipid deposition, energy retention, Lys and CP intake, and nitrogen excretion than TN pigs. The level of CP intake impacted nitrogen excretion, nitrogen retention efficiency, and urea as pigs fed HP had the highest values, and pigs fed LPAA had the lowest values (P < 0.05). On day 27, CHS pigs had lower (P < 0.05) free triiodothyronine than TN pigs. LPAA+ pigs had lower (P < 0.05) insulin than LPAA. On day 48, CHS pigs had lower (P < 0.05) thyroxine, albumin, and lactate than TN pigs. On day 27, pigs fed LPAA+ had higher (P < 0.05) lactate than pigs fed HP or LPAA. Both AT and D were enough to stimulate the immune system as CHS pigs had lower (P < 0.05) transferrin and 23-kDa protein levels than TN pigs, and HP pigs had higher haptoglobin than LPAA on day 27. These results confirm the deleterious effects of high AT on performance, body composition, metabolism, and immune system stimulation in finishing pigs. These data also show that a diet with low levels of CP can be provided to pigs in CHS without affecting performance and body composition while reducing nitrogen excretion. However, the use of a diet with an AA level above the requirements obtained by increasing intact protein and free AA did not attenuate the impact of CHS on performance and body composition of pigs.

High ambient temperature and air humidity are the most important climatic factors that jeopardize pig production. Multiple strategies can be applied for pigs under heat stress, including recent research to improve understanding the use of nutrition to attenuate the impact of heat stress. Heat stress impairs digestion, absorption, and amino acid metabolism with changes in amino acid requirements. Updates on the nutritional assessment strategies by differing the diets by protein and amino acid content (protein-bound or feed-grade) seem to be efficient tools for pork producers as amino acids play a functional role in challenged pigs apart from the beneficial effects on performance.

Ticagrelor vs Prasugrel in a Contemporary Real-World Cohort Undergoing Percutaneous Coronary Intervention.

BACKGROUND: Potent P2Y12 agents such as ticagrelor and prasugrel are increasingly utilized across the clinical spectrum of patients undergoing percutaneous coronary intervention (PCI). There is a paucity of data supporting their use in a patient population inclusive of both acute coronary syndrome (ACS) and chronic coronary syndrome (CCS) patients. OBJECTIVES: The authors compared the efficacy and safety of ticagrelor and prasugrel in a real-world contemporary PCI cohort. METHODS: Consecutive patients undergoing PCI between 2014 and 2019 discharged on either prasugrel or ticagrelor were included from the prospectively collected institutional PCI registry. Primary endpoint was the composite of death and myocardial infarction (MI), with secondary outcomes including rates of bleeding, stroke, and target vessel revascularization at 1 year. RESULTS: Overall, 3,858 patients were included in the study (ticagrelor: n = 2,771; prasugrel: n = 1,087), and a majority (48.4%) underwent PCI in the context of CCS. Patients prescribed ticagrelor were more likely to be female, have a history of cerebrovascular disease, and have ACS presentation, while those receiving prasugrel were more likely to be White with a higher prevalence of prior revascularization. No difference in the risk of death or MI was noted across the groups (ticagrelor vs prasugrel: 3.3% vs 3.1%; HR: 0.88; 95% CI: 0.54-1.43; P = 0.59). Rates of target vessel revascularization were significantly lower in the ticagrelor cohort (9.3% vs 14.0%; adjusted HR: 0.71; 95% CI: 0.55-0.91; P = 0.007) with no differences in stroke or bleeding. The results were consistent in patients with CCS (HR: 0.84; 95% CI: 0.46-1.54) and ACS (HR: 1.18; 95% CI: 0.46-1.54), without evidence of interaction (P = 0.37), and confirmed across multivariable adjustment and propensity score stratification analysis. CONCLUSIONS: In this contemporary patient population undergoing PCI, prasugrel and ticagrelor were associated with similar 1-year efficacy and safety.

Predictors of antiplatelet cessation in a real-world patient population undergoing non-cardiac surgery after PCI.

BACKGROUND: The optimal perioperative management of antiplatelet therapy (APT) therapy in patients undergoing noncardiac surgery (NCS) following percutaneous coronary intervention (PCI) is unclear. We sought to identify predictors of APT cessation in a real-world cohort of patients undergoing NCS within 1 year of PCI. METHODS: Consecutive patients undergoing PCI at a tertiary center between 2011 and 2018 were prospectively enrolled. Perioperative interruption of APT was defined as cessation of either aspirin or P2Y12 inhibitor between 1 and 14 days prior to NCS. Predictors of APT discontinuation were identified by multivariable Cox regression with stepwise selection of candidate variables. RESULTS: A total of 1092 surgeries corresponding to 747 patients were identified. Overall, there were 487 (44.6%) preoperative antiplatelet interruptions: discontinuation of either P2Y12 inhibitors only (47.4%), aspirin only (7.9%), or both agents (44.7%). Both patient-specific risk factors (prior stroke, lower BMI, anemia, MI) and procedure specific risk factors (chronic total occlusions, multivessel disease, drug-eluting stent use) affected decisions regarding APT cessation. Likelihood of APT cessation increased in higher-risk surgeries and in patients on more potent P2Y12 inhibitors (ticagrelor/prasugrel vs clopidogrel) whereas those undergoing NCS <90 days post PCI were less likely to have cessation of APT. CONCLUSION: In this contemporary cohort of post-PCI patients undergoing NCS, patient-, angiographic- and surgery-specific factors all affected decision-making regarding APT cessation. Our findings reflective of real-world practice, highlight the importance of a multidisciplinary team approach to individualize decision making in these patients.

Is Coronary Brachytherapy Staging a Comeback for the Treatment of In-Stent Restenosis?

PURPOSE OF REVIEW: The catheter-based coronary intervention has become a well-established therapeutic modality for obstructive coronary artery disease. However, in-stent restenosis remains a significant limitation of coronary intervention despite the use of newer devices. Intravascular brachytherapy was introduced to treat recurrent in-stent restenosis but only modestly adopted. This review will discuss the mechanism of intracoronary brachytherapy, available clinical evidence of brachytherapy in recurrent in-stent restenosis treatment, and the future of coronary brachytherapy in coronary intervention. RECENT FINDINGS: Drug-eluting stents have an inherent limitation as they leave a permanent metal layer inside an artery when deployed. Recently, drug-coated balloon technology has emerged to treat coronary artery disease as a combination of balloon angioplasty and local drug delivery without leaving a metal layer behind. Recent European guidelines recommended using drug-coated balloons when treating in-stent restenosis treatment, while the US guidelines have not yet addressed the use of drug-coated balloons in such cases. Coronary brachytherapy is a valuable addition to treat these challenging diseases despite several logistic issues. If there are newer technologies with easier setup, such as drug-coated balloons, coronary brachytherapy resurgence is improbable in the contemporary era, although it may not become obsolete.

Exercise Stress Test-Induced Atrioventricular Dissociation With Syncope.

Background: The exercise stress test is widely used as a diagnostic test for evaluating coronary artery disease in symptomatic patients or those with underlying cardiovascular disorders. Although exercise stress test risk is minimal with a <1% chance of causing heart block, physician awareness of potential complications is paramount for prompt recognition and treatment. Case Report: A 65-year-old-female with angina-like chest pain underwent an exercise stress test for ischemic heart disease evaluation. She performed the exercise stress test up to stage 2 (exercise Bruce protocol) with an exercise duration of 5 minutes and maximum metabolic equivalents of 7. During her recovery phase, the patient developed atrioventricular dissociation with junctional rhythm followed by syncope. Immediate treatment was administered, including intravenous normal saline, and she recovered without any complications. Conclusion: This case reminds clinicians to be aware of the unpredictable effects of the exercise stress test even though atrioventricular dissociation after an exercise stress test is rare. Providing immediate treatment to prevent any untoward effects is essential.

A Visual Resolution of Cardiotoxicity: A Case Report of Digoxin-Induced Bidirectional Ventricular Tachycardia.

Digoxin is rarely used in modern cardiovascular disease management. Therefore, digoxin toxicity has been infrequently encountered and it is paramount to diagnose in a timely fashion. Bidirectional ventricular tachycardia is an unusual arrhythmia wherein every other beat has a different QRS axis as it travels alternately down different conduction pathways. The arrhythmia can be a manifestation of myocarditis, myocardial infarct, Andersen-Tawil syndrome, arrhythmogenic right ventricular cardiomyopathy, catecholaminergic polymorphic ventricular tachycardia, herbal aconite poisoning, and digoxin toxicity. This case illustrates the importance of clinician awareness of rare electrocardiogram (EKG) patterns of digoxin toxicity and visual resolution of fatal arrhythmia with timely treatment.

Role of Stent Versus Thrombolysis in Management of Cocaine-Induced ST-Elevation Myocardial Infarction.

Cocaine has been used increasingly nowadays because of its abundant availability and recreational effects. Along with that, we have been experiencing many cases presenting with cocaine intoxication and withdrawal effects, including hypertension and chest pain syndrome. In the modern era, many medical advances related to myocardial infarction treatment have been made, including not only medical therapy but also urgent or emergent reperfusion, and revascularization therapies. In percutaneous coronary revascularization therapy, a second-generation drug-eluting stent (DES) with dual antiplatelet therapy is the first-line treatment compared to bare-metal stent (BMS) with significant reduced risk of stent thrombosis and restenosis. However, there is limited clinical and research data on how to approach cocaine-induced myocardial infarction (CIMI) and it remains unclear what would be the optimal stent type we should use in CIMI. We, hereby, would like to describe a case of cocaine-related ST-segment elevation myocardial infarction (STEMI) requiring emergent percutaneous coronary intervention with a DES and clinical outcome. We also performed a literature review of cocaine-induced acute myocardial infarction management.

Thrombus in Transit: Extract or Dissolve?

Thrombus in transit (TIT) remains an uncommon diagnosis. However, it is often found in patients diagnosed with acute pulmonary embolism (PE). While thrombolytics are mainly used in life-threatening presentations, their role in stable patients with a known history of intracranial hemorrhage (ICH) is unclear.

Adult Double-Chambered Right Ventricle Associated With Ventricular Tachycardia and New-Onset Heart Failure.

A double-chambered right ventricle is an uncommon form of congenital heart disease that is characterized by the division of the right ventricle into a proximal high-pressure chamber and a distal low-pressure chamber. A 70-year-old male presented to the emergency room from his outpatient doctor's office with unstable wide complex ventricular tachycardia with right axis deviation. His ventricular tachycardia was terminated using external cardioversion and intravenous amiodarone. He was subsequently found to have new-onset heart failure with a reduced ejection fraction and a right ventricular tract outflow obstruction on transthoracic echocardiography. A diagnosis of the double-chambered right ventricle was made. The patient was offered surgery to fix the anomalous tissue but he refused. He did agree to subcutaneous implantable cardioverter-defibrillator placement and was then discharged home.

Primary Retrograde Tibio-Pedal Approach for Endovascular Intervention of Femoropopliteal Disease with Chronic Total Occlusion.

OBJECTIVES: This study investigated the feasibility, safety, and the acute outcome of primary retrograde tibio pedal approach (TPA) in the treatment of peripheral arterial disease (PAD) with femoropopliteal (FP) chronic total occlusion (CTO). BACKGROUND: With maturing in endovascular technology and further development in new devices, endovascular therapy has become a comparable and preferred treatment for patients with PAD. The retrograde TPA has not been studied to treat FP CTO extensively. METHODS: We performed a retrospective analysis of 98 consecutive patients who underwent peripheral angiogram and intervention of 123 FP CTO lesions from June 1st, 2016 to June 30th, 2018 in a single center. Peripheral angiography and percutaneous balloon angioplasty was done primarily via retrograde TPA. Demographic data, procedural success rate, peri-procedural major adverse complications, and 30-day outcomes were recorded. RESULTS: Out of 123 procedures, the dorsalis pedis artery/distal anterior tibial artery was the most common TPA site (59%) followed by the posterior tibial artery in 27% patients and peroneal artery in 14% patients. In 40 (33%) FP CTO lesions, additional transradial accesses were needed for controlled antegrade and retrograde tracking (CART) technique. Overall procedural success was achieved in 122 FP CTO (99%) lesions. No patients had significant access site bleeding, hematoma, worsening kidney dysfunction or acute limb ischemia within 30-day following this procedure. CONCLUSIONS: The primary retrograde TPA for FP CTO lesions is safe and feasible. With a combination of tibio pedal and transradial approach, our procedural success rate is very high for FP CTO intervention.

Quadricuspid Aortic Valve: A Rare and Incidental Finding.

A quadricuspid aortic valve (QAV) is an exceedingly rare congenital heart anomaly with around 200 cases reported in the literature since the first case was reported in 1862. To the best of our knowledge, there has not been any case of QAV associated with pregnancy. We report a case of a 29-year-old female with new-onset palpitations, diagnosed with QAV and mild aortic regurgitation during pregnancy. The patient presented with new-onset intermittent palpitations at the 37th week of pregnancy. Electrocardiogram (EKG) showed normal sinus rhythm, and transthoracic echocardiography revealed a quadricuspid aortic valve with three equal-sized cusps and one smaller cusp and mild aortic regurgitation without any additional anomalies. QAV morphology falls under the category type b Hurwitz & Roberts classification. She underwent normal vaginal delivery without any peripartum cardiac complications. In conclusion, QAV is a rare congenital anomaly. It is not uncommon to be associated with aortopathies. The presence of QAV and associated anomalies in pregnancy makes it a high-risk state. Close monitoring, especially during the second and third trimesters, remain of utmost importance. Because of its rarity, the characteristics, natural history, and long-term outcomes of QAV are poorly defined.

Trends in Epidemiology: Analysis of Risk Factors and Outcomes of Infective Endocarditis: A Retrospective Study (2009-2015).

Background Despite advanced diagnosis and treatment, infective endocarditis (IE) is a potentially life-threatening condition. Although recent studies have provided evidence of changing trends in IE epidemiology, few studies examine patterns within urban minority populations. Here we present the epidemiology, risk factors, and outcomes of IE among an underserved African American population in Brooklyn, New York, compared to the general population. Methods This is a retrospective study which included 67 patients with IE diagnosed at The Brooklyn Hospital Center from 2009 to 2015. Patients were selected according to the modified Duke Criteria for definite IE. Various epidemiological parameters were examined via chi-square and Fisher's exact test using SPSS 24 software (IBM Corp., Armonk, NY). Results The mean age of the 67 patients was 63 years and 46.3% of the patients were men. The majority of patients (70.1%) were African American while Hispanics and Caucasians were 17.9% and 7.5%, respectively. Healthcare-associated IE (58.2%, n=39) outnumbered community-acquired IE (41.8%, n=28). The sites of vegetation were the mitral valve (62.7%, n=42), tricuspid valve (22.4%, n=15), aortic valve (11.9%, n=8), and intravenous catheter (3%, n=2). In valves, 13.4% of the cases were found in prosthetic valves while the majority occurred in native valves. The most common pathogens of IE were the Staphylococcus (50.8%, n=34) species, followed by Streptococcus species (32.8%, n=22). Overall, the in-hospital mortality was 38.8% (n=26) with higher mortality observed for healthcare-associated IE than community-acquired IE (P = .049). Embolic complications were associated with significant mortality (P < .001). Conclusion Our study demonstrated that the common causative pathogens for IE among African Americans trends towards Staphylococcus species followed by Streptococcus species, similar to the contemporary epidemiology of IE. Healthcare-associated IE outnumbered community-acquired IE and was associated with higher mortality. Embolic complications were significantly associated with high mortality. Therefore, efforts made to control healthcare-associated infections are expected to decrease the trend of IE.

Distal transradial artery access in the anatomical snuffbox for coronary angiography as an alternative access site for faster hemostasis.

OBJECTIVES: This study investigated the feasibility, safety, and the potential benefit of faster hemostasis with the distal transradial artery access (TRA). BACKGROUND: TRA has been shown to be associated with lower bleeding and vascular complications. Limited data are available regarding the new technique of accessing the distal radial artery in the anatomical snuffbox. METHODS: We retrospectively reviewed 202 consecutive patients who underwent coronary angiography and intervention with distal TRA. Two hundred and six conventional TRA cases were collected as a comparison arm. RESULTS: Out of 408 patients, successful distal radial access was obtained in 99.5% (201/202) in the distal TRA cases and 99.0% (204/206) in the conventional TRA cases. The rate of access site crossover was 2.0% (4/202) for distal TRA. Right distal radial artery was accessed in 176 cases (87.6%). Mean access time from local anesthesia to radial flush was 7.3 min. Ninety cases (44.8%) were percutaneous coronary interventions (PCIs) and the mean heparin dose used was 4,448 units (6,009 units for PCI and 3,182 units for diagnostic catheterization). Mean time to remove TR band was 104.7 min (120.8 min for PCI and 91.7 min for diagnostics). Follow-up ultrasound study showed two partial occlusions (1.0%) and one arteriovenous fistula (0.5%) that resolved with prolonged TR band inflation. CONCLUSIONS: Despite longer time to access the distal radial artery in the anatomical snuffbox, it is a safe and feasible alternative to conventional TRA and might result in shorter time to hemostasis especially in cases of PCI.

Staphylococcus Lugdunensis Endocarditis and Cerebrovascular Accident: A Systemic Review of Risk Factors and Clinical outcome.

Infective endocarditis (IE) secondary to Staphylococcus lugdunensis has been increasingly recognized since 1988. IE-related thromboembolism represents an associated complication of the disease and carries a dismal prognosis. However, the incidence of cerebrovascular accident secondary to S. lugdunensis IE is relatively uncommon and its treatment has not been clearly elucidated yet. We performed an extensive literature search using Pubmed, Medline, Scopus, and Google Scholar to identify the articles using the following keywords: 'Staphylococcus lugdunensis', 'infective endocarditis', 'stroke', and 'cerebrovascular accident.' Patient characteristics, risk factors, severity of neurological deficit, echocardiographic findings, medical management, required surgical intervention, complications and mortality rate were reviewed in detail. Eighteen cases (mean age of 47.8 years, 55% male) from 17 publications with S. lugdunensis-related cerebrovascular accident (CVA) were identified. Of these, 16 (87%) cases were left-sided endocarditis and 10 (61%) cases experienced right-sided neurological deficit. The source of infection was documented in eight cases (50%) in which four cases (50%) were related to groin-related procedures and the mitral valve (52.5%) was mostly infected followed by aortic valve (37%). Surgical valve replacement was done in 61% of patients and overall mortality rate was 22%. S. lugdunensis endocarditis is associated with high mortality and morbidity, including a higher prevalence of CVA. Early disease identification with aggressive intervention is crucial for better outcomes.

Biventricular Thrombi in a Patient With Heart Failure With Severely Reduced Ejection Fraction and Heterozygous Prothrombin 20210G/A and Homozygous Methylenetetrahydrofolate Reductase 677C/T Mutations.

Thrombus in the heart is known to be one of the many sequelae of anterior wall myocardial infarction, atrial fibrillation and coagulation disorders. However, biventricular thrombi are relatively rarely found, even in conditions with a high possibility of thrombus formation. We report the case of a 75-year-old-woman with newly diagnosed systolic heart failure secondary to a nonischemic cardiomyopathy, who was found to have large biventricular thrombi. Further coagulopathy work-up revealed that she was heterozygous for the prothrombin 20210G/A and homozygous for the methylenetetrahydrofolate reductase (MTHFR) 677C/T mutations. We, herein, review and discuss previous case reports and published literature regarding ventricular thrombosis and its treatment. To the best of our knowledge, this is the first case of biventricular thrombosis with prothrombin 20210G/A and MTHFR 677C/T mutations.

A Mild Version of Danon Disease Caused by a Newly Recognized Mutation in the Lysosome-associated Membrane Protein-2 Gene.

We present the case of a patient with dilated cardiomyopathy caused by a novel mutation in the lysosome-associated membrane protein-2 (LAMP-2) gene. Patients with pathogenic mutations of this gene typically suffer from Danon disease - a condition that leads to cognitive decline, severe skeletal myopathy, and severe hypertrophic cardiomyopathy. Our patient's presentation and clinical course, however, is different and much less severe than other patients with this disease. He did not suffer from neurologic and musculoskeletal complications. He is also possibly the longest-known survivor of this disease without a heart transplant. This disease is unfamiliar to many physicians, and our case highlights the importance of an awareness of this disorder, particularly because of its implications for both the patient and his family.