Case Reports in Cardiology

A 45-year-old woman was admitted with severe pain in the right leg and dyspnea. Her medical history included previous Staphylococcus aureus endocarditis, biological aortic valve replacement, and intravenous drug abuse. She was febrile but did not have any focal signs of infection. Blood tests showed raised infectious markers and troponin levels. Electrocardiogram showed sinus rhythm without signs of ischemia. Ultrasound revealed thrombosis of the right popliteal artery. The leg was not critically ischemic, and therefore, treatment with dalteparin was chosen. Transesophageal echocardiography showed an excrescence on the biological aortic valve. Empiric treatment for endocarditis was started with intravenous vancomycin, gentamicin, and oral rifampicin. Blood cultures subsequently grew Staphylococcus pasteuri. On day 2, treatment was changed to intravenous cloxacillin. Due to the comorbidity, the patient was not a candidate for the surgical treatment. On day 10, the patient developed moderate expressive aphasia and weakness in the right upper limb. Magnetic resonance imaging showed micro-embolic lesions scattered across both hemispheres of the brain. Treatment was changed from cloxacillin to cefuroxime. On day 42, infectious markers were normal, and echocardiography showed regression of the excrescence. Antibiotic treatment was stopped. Follow-up on day 52 did not show any signs of active infection. However, on day 143, the patient was readmitted with cardiogenic shock due to aortic root fistulation to the left atrium. She quickly deteriorated and died.

Background. Atrial fibrillation (AF) is a common arrhythmia in elderly patients and is associated with increased risk of mortality. The pathogenesis of AF is complex and based on multiple genetic and environmental factors. Genome-wide association studies identified several loci in AF patients, indicating the complex genetic architecture of this disease. In rare cases, familial forms of AF have been described. Today, pathogenic variants in at least 11 different genes are associated with monogenic AF. Case presentation. The 37-year-old male patient presented to our emergency department with AF. At the age of 35, he had already been diagnosed with paroxysmal AF. Additionally, his 34-year-old brother had also been diagnosed with AF as well as nonobstructive hypertrophic cardiomyopathy. Moreover, the patient’s father was diagnosed with AF in his twenties. Transthoracic echocardiography and cardiac MRI revealed a reduced systolic left ventricular ejection without any signs of hypertrophic cardiomyopathy. Genetic testing identified the heterozygous missense variants c.3371C > T, p.(Pro1124Leu) in RYR2 (NM_001035.3) and c.2524C > A, p.(Pro842Thr) in HCN4 (NM_005477.3) in the patient’s and his brother’s DNA. Discussion. This case of familial AF helps to strengthen the role of RYR2 as a disease gene in the context of AF. Although the variant in RYR2 needs to be classified formally as variant of unknown significance, we regard it as probably disease-causing due to the previously published data. As RYR2 has already been identified as a possible target for prevention and therapy of AF, the knowledge of variants in RYR2 might become even more crucial for individual molecular therapies in the future.

Coronary artery bypass graft (CABG) pseudoaneurysms are a rare but often unrecognized clinical entity. They are prone to rupture and hemodynamic compromise and should therefore be on the differential in the appropriate patient. We present a case of a gentleman with a recent CABG surgery who presented with acute onset dyspnea and a large pleural effusion. Imaging revealed a saphenous vein graft pseudoaneurysm embedded in a mediastinal hematoma. Four weeks later, prior to planned stenting, the pseudoaneurysm had spontaneously closed. This case highlights an unusual acute presentation of a CABG pseudoaneurysm and a multidisciplinary approach to its management.

Coronary artery compression/damage by cardiac pacing/defibrillation leads is very rare and often an unknown complication of pacemaker implantation. Here, we present the case of a 71-year-old woman with late discovery of an asymptomatic compression of the left anterior descending (LAD) coronary artery by a defibrillation lead implanted ten years before. This dissuaded us in removing this now malfunctioning lead with high threshold, and an additional right ventricular (RV) lead was implanted along with atrial and left ventricular (LV) leads for allowing resynchronization therapy. Based on the published data, a majority of RV leads are currently implanted in the “anteroseptal area,” which is neighboring the course of the LAD.

In this case report, we describe a 55-year-old female patient with worsening exertional dyspnea who is referred to the cardiology department, due to the appearance of worsening pulmonary vascular disease on computed tomography (CT) of the chest. Previous transthoracic echocardiograms (TTE) identified right ventricle enlargement, but no other structural abnormalities. She completed cardiac magnetic resonance (CMR) imaging, which identified a large secundum atrial septal defect (ASD). She subsequently underwent surgical planning and correction of the lesion with improvement of her symptoms. This case and a growing body of literature support the use of CMR as an alternative imaging modality for the diagnosis of congenital heart disease (CHD).

VACTERL association is typically defined by the presence of at least three of the congenital malformations that make up the term including: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula (TEF), renal anomalies, and limb deformities. Patients with VACTERL are typically managed through immediate-postnatal-surgical correction of the specific congenital anomalies (typically anal atresia, specific types of cardiac malformations, and/or TEF), followed by long-term medical management of the congenital malformations. Although congenital anomalies might have long-lasting effects, the prognosis can be positive when the best surgical remedy is possible. Here, we present a case of 5 years female that is a known case of VACTERL Status Post (S/P)TEF repair, S/P double outlet right ventricle repair at sixth day and fifth month of life. This child managed to survive despite being operated in a resource-limited setting.