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.

A failing right heart in an eggshell: A case report of idiopathic constrictive pericarditis.

key Clinical Message: Constrictive Pericarditis is a rare fibrotic conversion of the pericardium that results in non-specific clinical symptoms such as hepatomegaly, ascites, pleural effusions, and lower extremity edema. A multi-modal diagnostic approach with cardiac imaging tools, cardiac hemodynamic measurements, and tissue biopsy can be used to diagnose Constrictive Pericarditis. Abstract: Constrictive Pericarditis is a rare complication resulting in the fibrotic conversion of the pericardium secondary to idiopathic, infective, post-surgical, or post-radiation etiologies. The rigid and restrictive nature of the pericardium can result in non-specific symptoms of volume overload that can mimic liver cirrhosis or congestive heart failure. We present the case of a 73-year-old female with constrictive pericarditis who presented with vague symptoms of abdominal pain, abdominal bloating, and bilateral lower extremity edema. This case report highlights the clinical manifestation, invasive, and non-invasive diagnostic work-up, and management of constrictive pericarditis.

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.