Heart in Disguise: Unmasking a Novel Gene Deletion in Dilated Cardiomyopathy.

Dilated cardiomyopathy (DCM) is an underrecognized condition with a myriad of etiologies, but it is often labeled idiopathic. However, genetic mutations are emerging as a more common cause of idiopathic DCM than previously believed. Herein, we present a case of a previously healthy 45-year-old woman who presented with three weeks of exertional dyspnea and orthopnea. An echocardiogram showed DCM with severely reduced systolic function and diastolic dysfunction. She was extensively worked up for potential etiologies of her heart failure which included HIV testing, parasite smear, viral serologies, autoimmune testing, cardiac MRI for infiltrative diseases, and coronary catheterization. She was ultimately tested for genetic mutations which revealed a 49-51 exon deletion of the dystrophin (Duchenne muscular dystrophy (DMD)) gene. This case highlights the guideline-based evaluation and management of new-onset heart failure in a healthy 45-year-old female without known predisposing risk factors or family history. It also sheds light on the expansive genetic etiologies that have only recently been identified in those with idiopathic cardiomyopathy. Further research is crucial to improve our understanding of genetic associations of cardiomyopathy.

Role of genetic polymorphisms in clopidogrel response variability: a systematic review.

INTRODUCTION: Clopidogrel is a P2Y12 inhibitor that has become a mainstay treatment following percutaneous intervention with drug-eluting stent placement to decrease restenosis and its potential complications, including sudden cardiac death and ischaemic strokes in patients with significant vascular disease. AREAS COVERED: As a prodrug, the metabolism and efficacy of clopidogrel are contingent on the presence of wild-type CYP450 (CYP2C19) alleles. Genetic polymorphisms and variants are well known to impair its ability to prevent major adverse cardiovascular events in these patients, with inadequate response rates as high as 30% in previous publications. Patterns of allelic frequencies are expected to exhibit similarities between individuals of the same ancestry, ethnic group or geographic region. Accordingly, we seek to further elucidate worldwide prevalence rates for genetic polymorphisms in the CYP2C19-dependent metabolism of clopidogrel and review the potential of personalised CYP2C19 genotyping in clinical practice to mitigate this high treatment resistance and its associated burden on patients. EXPERTS' COMMENTARY: Our findings support the consideration of genotyping before initiation of therapy to guide adequate dosage or substitutions of other P2Y12 inhibitors to promote personalised, precision medicine and to prevent adverse events when these therapies may inevitably fail in patients with variants of the CYP450 (CYP2C19) system.

COVID-19-Induced Cardiac Tamponade: A Case Study and a Literature Review.

COVID-19 presentation is heterogeneous. As a viral illness, it could cause pericardial effusion leading to cardiac tamponade. We present a patient coursing with this viral illness that was found to have cardiac tamponade. We report a case of a 79-year-old female who presented with shortness of breath and dry cough for one week and resulted positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Her initial chest X-ray showed a bottle-shaped heart. Computed chest tomography showed pericardial effusion, and an echocardiogram confirmed moderated pericardial effusion with signs of tamponade. He improved with conservative therapy with colchicine, ibuprofen, cefepime, dexamethasone, dolutegravir, and apixaban for pulmonary emboli. An early approach in cardiac tamponade induced by COVID-19 is crucial to promptly address an aggressive directed therapy, avoiding potential complications or unnecessary procedures.

Left Main Coronary Artery Fusiform Aneurysm.

Aneurysm of the coronary artery is an uncommon condition that is usually found incidentally. The left coronary aneurysm is the least common. We report the case of a young patient with a history of vasculitis who was found to have a left fusiform coronary aneurysm. This is a 20-year-old female who has a history of polyarteritis nodosa and who came due to shortness of breath associated with chest discomfort. The physical exam was only relevant for multiple joint pains and tenderness. An echocardiogram showed a possible coronary aneurysm that was confirmed on the angio-tomography. The patient was discharged without complications. The left main coronary artery aneurysm is a rare condition and the least common of the coronary aneurysms. There is no established guideline for screening and therapy of these aneurysms, but invasive methods are not a preferred method for follow-up on this condition.

Description of patients with severe COVID-19 treated in a national referral hospital in Peru. / Caracterización de pacientes con COVID-19 grave atendidos en un hospital de referencia nacional del Perú.

In order to describe manifestations from patients with coronavirus disease 2019 (COVID-19), sociodemographic variables such as, previous medical history, clinical and radiological manifestations, treatments and evolution of patients were evaluated. This took place from March 6th to 25th, 2020, in the "Edgardo Rebagliati Martins" National Hospital in Lima. Seventeen patients were registered: 76% were male, with an average age of 53.5 years (range 25-94); 23.5% had returned from abroad; 41.2% were referred from other health facilities; 41.2% were admitted to mechanical ventilation; 29.4% (5 patients) died. The risk factors detected were: advanced age, arterial hypertension and obesity. The main symptoms detected were: cough, fever and dyspnea. Frequent laboratory findings were: elevated C-reactive protein and lymphopenia. The predominant radiological presentation was bilateral interstitial lung infiltrate. A first experience in the management of patients diagnosed with severe COVID-19 in Peru is reported.

Con el objetivo de describir las manifestaciones de pacientes con enfermedad por coronavirus 2019 (COVID-19), se evaluaron variables sociodemográficas, antecedentes, manifestaciones clínicas y radiológicas, tratamientos y evolución en pacientes que ingresaron por emergencia, del 6 al 25 de marzo de 2020, al Hospital Nacional Edgardo Rebagliati Martins en Lima. Se registraron 17 pacientes: el 76% eran varones, edad promedio de 53,5 años (rango de 25 a 94); el 23,5% había regresado del extranjero; 41,2% referido de otros establecimientos de salud; 41,2% ingresó a ventilación mecánica; falleció el 29,4% (5 pacientes). Los factores de riesgo detectados fueron adulto mayor, tener hipertensión arterial y obesidad; los principales síntomas, tos, fiebre y disnea; los hallazgos de laboratorio frecuentes, proteína C reactiva elevada y linfopenia; la presentación radiológica predominante, el infiltrado pulmonar intersticial bilateral. Se reporta una primera experiencia en el manejo de pacientes con diagnóstico de la COVID-19 grave en el Perú.

Caracterización de pacientes con COVID-19 grave atendidos en un hospital de referencia nacional del Perú / Description of patients with severe COVID-19 treated in a national referral hospital in Peru

RESUMEN Con el objetivo de describir las manifestaciones de pacientes con enfermedad por coronavirus 2019 (COVID-19), se evaluaron variables sociodemográficas, antecedentes, manifestaciones clínicas y radiológicas, tratamientos y evolución en pacientes que ingresaron por emergencia, del 6 al 25 de marzo de 2020, al Hospital Nacional Edgardo Rebagliati Martins en Lima. Se registraron 17 pacientes: el 76% eran varones, edad promedio de 53,5 años (rango de 25 a 94); el 23,5% había regresado del extranjero; 41,2% referido de otros establecimientos de salud; 41,2% ingresó a ventilación mecánica; falleció el 29,4% (5 pacientes). Los factores de riesgo detectados fueron adulto mayor, tener hipertensión arterial y obesidad; los principales síntomas, tos, fiebre y disnea; los hallazgos de laboratorio frecuentes, proteína C reactiva elevada y linfopenia; la presentación radiológica predominante, el infiltrado pulmonar intersticial bilateral. Se reporta una primera experiencia en el manejo de pacientes con diagnóstico de la COVID-19 grave en el Perú.

ABSTRACT In order to describe manifestations from patients with coronavirus disease 2019 (COVID-19), sociodemographic variables such as, previous medical history, clinical and radiological manifestations, treatments and evolution of patients were evaluated. This took place from March 6th to 25th, 2020, in the "Edgardo Rebagliati Martins" National Hospital in Lima. Seventeen patients were registered: 76% were male, with an average age of 53.5 years (range 25-94); 23.5% had returned from abroad; 41.2% were referred from other health facilities; 41.2% were admitted to mechanical ventilation; 29.4% (5 patients) died. The risk factors detected were: advanced age, arterial hypertension and obesity. The main symptoms detected were: cough, fever and dyspnea. Frequent laboratory findings were: elevated C-reactive protein and lymphopenia. The predominant radiological presentation was bilateral interstitial lung infiltrate. A first experience in the management of patients diagnosed with severe COVID-19 in Peru is reported.

Clinical Determinants of Myocardial Injury, Detectable and Serial Troponin Levels among Patients with Hypertensive Crisis.

Introduction There is a high prevalence of hypertensive crisis with myocardial injury, as evidenced by elevation in cardiac troponin levels. The risk factors predisposing patients to developing a myocardial injury, detectable troponin, and increase in serial troponin in this population are not known. Methods A retrospective study was designed to include all patients, presenting to the emergency room, diagnosed with hypertensive crisis, using International Classification of Diseases, 10th revision, Clinical Modification (ICD-10-CM) codes between 2016-2018 (n=467). Logistic regression was used to determine the important predictors of myocardial injury evidenced by troponin elevation >99th percentile of upper reference level (URL), detectable troponin (> 0.015 ng/ml), and increase in serial troponin levels. Results The 99th percentile of the initial troponin level among all patients was 0.433 ng/ml. A total of 15% had a myocardial injury, and the significant risk factors associated with it were body mass index (BMI) < 30 kg/m2 (odds ratio [OR] 0.50, confidence interval [CI] 0.28-0.89), congestive heart failure (CHF; OR 4.28, CI 2.21-8.25) and prior use of aspirin (OR 1.98, CI 1.08-3.63). About 35% had detectable troponin, and BMI < 30 kg/m2 (OR 0.62, CI 0.40-0.97), CHF (OR 3.49, CI 2.06-5.9), elevated creatinine (OR 1.17, CI 1.02-1.34) and age <61 years (OR 0.59, CI 0.38-0.94) were associated with it. The factors associated with an increase in serial troponin were BMI < 30 Kg/m2 (OR 0.56, CI 0.36-0.87), CHF (OR 1.78, CI 1.06-3.0), coronary artery disease (CAD; OR 2.08, CI 1.28-3.36) and non-Caucasian race (OR 0.52, CI 0.29-0.93). Conclusion About one-third of patients with the hypertensive crisis have detectable troponin. Still, among these, less than half have troponin levels >99th percentile URL, and the majority of these patients have minimal changes in serial troponin. Low BMI was associated with higher initial and serial troponin levels, and this obesity paradox was stronger among females and older patients.