European Heart Journal: Case Reports最新文献

Background: Infective endocarditis (IE) is an uncommon but potentially fatal disease, with an incidence of 13.8 per 100 000 and persistent high mortality (15-30%). In 10-20% of cases, cultures remain negative and additional serological testing for infectious and non-bacterial endocarditis is required.

Case summary: We report a case of a 25-year-old North African man with a history of lupus nephritis presenting with progressive dyspnoea, retrosternal pain, and fever. Transthoracic echocardiography showed extensive calcifications on the aortic valve with severe aortic regurgitation. Prior echocardiograms had already documented a large aortic valve calcification, which was not considered suspicious for IE on previous FDG-positron emission tomography scan. However, a transoesophageal echocardiogram at admission revealed a functional bicuspid aortic valve with a large vegetation and severe left ventricular dysfunction. The patient rapidly deteriorated into beginning cardiogenic shock, necessitating emergency mechanical aortic valve replacement. Blood cultures remained negative, but serology testing revealed elevated Bartonella henselae IgG (≥1:1280) with positive polymerase chain reaction for Bartonella species on the resected valve. B. henselae, known as the causative pathogen of 'cat-scratch disease', was identified as the aetiological pathogen of blood culture-negative IE (BCNIE). The patient was successfully treated with doxycycline and gentamicin, in combination with guideline-directed medical therapy for heart failure and cardiac resynchronization therapy.

Discussion: This case illustrates the diagnostic challenges of BCNIE. Serologic and molecular testing should be pursued when cultures remain negative. Multi-disciplinary management, early surgical intervention, appropriate antibiotic treatment, and optimized heart failure therapy in IE presenting with acute heart failure can improve patient outcomes.

Background: The management of coronary artery disease in patients with severe aortic stenosis is controversial, with no consensus on optimal revascularization strategies. The validity of using fractional flow reserve to assess ischaemia in this population is debated. Conflicting results have arisen regarding the impact of transcatheter aortic valve implantation on fractional flow reserve values. We present the case of a patient with severe aortic stenosis and intermediate left anterior descending artery stenosis, in whom the fractional flow reserve and the index of microcirculatory resistance suggested the presence of coronary microvascular dysfunction prior to transcatheter aortic valve implantation. However, after valve replacement, the fractional flow reserve and the index of microcirculatory resistance indicated physiologically significant ischaemia, prompting intervention.

Case summary: An 82-year-old woman presented with paradoxical low-flow, low-gradient severe aortic stenosis and intermediate left anterior descending artery stenosis. The fractional flow reserve was borderline, and the index of microcirculatory resistance was elevated before transcatheter aortic valve implantation, indicating the presence of coronary microvascular dysfunction. Six months after valve replacement, the fractional flow reserve declined to 0.64 with an improved index of microcirculatory resistance, prompting a successful percutaneous coronary intervention. Subsequent cardiac magnetic resonance imaging revealed reverse remodelling with a reduced left ventricular mass.

Discussion: This case illustrates that transcatheter aortic valve implantation may unmask coronary ischaemia by restoring microvascular vasodilatory capacity in patients with coronary microvascular dysfunction. It also highlights the importance of reassessing coronary physiology in selected patients following transcatheter aortic valve implantation.

Background: Danon disease is a rare genetic disorder that primarily impacts cardiac muscle, skeletal muscle, and the central nervous system. It is frequently undiagnosed in children because the characteristic cardiac symptoms are not yet apparent.

Case summary: This case represents the youngest reported patient with a novel lysosome-associated membrane protein-2 variant, presenting with unexplained elevation of cardiac biomarkers, electrical abnormalities, and septal-predominant LGE on CMR, notably without left ventricular hypertrophy or dilation. Ultimately, the diagnosis of Danon disease was confirmed through genetic sequencing.

Discussion: This case demonstrates that Danon disease can manifest in young patients with a specific CMR pattern-even in the absence of classic structural changes such as left ventricular hypertrophy. Therefore, clinicians should include Danon disease in the differential diagnosis for paediatric patients presenting with a combination of unexplained elevated biomarkers, electrical abnormalities, and distinctive LGE. Early genetic testing is critical in such scenarios to confirm or exclude the diagnosis.

Background: Pulmonary tumour thrombotic microangiopathy (PTTM) is a malignancy-associated disease that causes fatal pulmonary hypertension (PH). Due to its rapidly progressive clinical course, antemortem diagnosis is often difficult. Pulmonary tumour thrombotic microangiopathy shares several clinical and imaging characteristics with chronic thromboembolic pulmonary hypertension (CTEPH), making differentiation between these two diseases challenging.

Case summary: A 64-year-old woman with pancreatic cancer treated with chemotherapy presented with shortness of breath and cough over the past 5 months and was admitted due to a 2-week history of worsening dyspnoea and peripheral oedema. Transthoracic echocardiography found dilated right ventricle, interventricular septal flattening, and severe tricuspid regurgitation. Although contrast-enhanced computed tomography showed no evidence of pulmonary thromboembolism, pulmonary perfusion scintigraphy demonstrated multiple wedge-shaped defects in the peripheral regions of both lungs. Right heart catheterization confirmed pre-capillary PH, and pulmonary angiography revealed vascular narrowing of the peripheral pulmonary arteries. Based on the radiological findings and the relatively slow clinical course, CTEPH was initially suspected. However, pulmonary wedge aspiration cytology-performed by aspirating a blood sample via a Swan-Ganz catheter from the wedged position during right heart catheterization-revealed tumour cells, confirming the diagnosis of PTTM rather than CTEPH. Because of the poor prognosis, the patient received palliative care and died 2 months later.

Discussion: Pulmonary tumour thrombotic microangiopathy is a rare but fatal cause of PH and is rarely diagnosed antemortem. Pulmonary wedge aspiration cytology is a minimally invasive and valuable tool that helps differentiate PTTM from CTEPH and plays a crucial role in guiding both diagnosis and management.

Background: Recent evidences have supported the use of transcatheter aortic valve implantation (TAVI) across all risk categories of patients. However, in case of young patients several points should be considered in a lifetime perspective taking into account both surgical and percutaneous therapies.

Case summary: An 82-year-old man with a history of aortic valve disease treated 12 years earlier with surgical aortic valve and aortic root replacement was admitted for worsening dyspnoea. Echocardiogram showed degenerated surgical bioprosthesis with severe regurgitation. Due to prior surgery and high operative risk, the heart team opted for valve-in-valve TAVI. The procedure was successful and the patient remained asymptomatic at 30-day follow-up.

Discussion: This case shows how to approach aortic valve disease in a lifetime perspective. Surgical and percutaneous approaches can be used in multiple combinations according to patient's age, anatomical characteristics and personal preferences.

Background: Brugada syndrome (BrS) is a rare cardiovascular condition that can lead to life-threatening arrhythmias. The SCN5A gene, most implicated in heritable BrS, is found in only 20% of those who have the clinical phenotype seen with BrS. Establishing the diagnosis of BrS can be challenging as the electrocardiogram (ECG) pattern that is diagnostic for the syndrome is often transient. Typically, a pharmacological challenge using a Class 1 antiarrhythmic is used to provoke a Type 1 Brugada pattern on ECG that may otherwise be concealed.

Case summary: We describe a case series of three unrelated patients who underwent an exercise treadmill test (ETT) according to standard Bruce protocol. Each patient demonstrated a Type 1 Brugada pattern most apparent in the early recovery phase immediately after peak exercise but not at baseline.

Discussion: This case series highlights the value of ETT as a diagnostic aid for BrS. We suggest that ETT could be considered as a routine means of provoking a Brugada ECG pattern.

Background: Atrial fibrillation (AF) is associated with structural and electrical remodelling of the left atrium, but in rare cases, it may occur secondary to external compression or local inflammation. Cardiac involvement of malignant lymphoma is uncommon, and its contribution to AF mechanisms remains poorly understood. We report a case of recurrent lymphoma involving the right inferior pulmonary vein (RIPV), in which pulsed field ablation (PFA) restored sinus rhythm, supported by multimodality imaging and cytological evaluation.

Case summary: A 71-year-old man with a history of follicular lymphoma presented with new-onset AF and palpitations. Contrast-enhanced cardiac computed tomography (CT) revealed an irregular soft tissue lesion involving the RIPV. A retrospective review of a prior non-contrast CT showed subtle thickening in the same region. Pulsed field ablation achieved isolation of all pulmonary veins. Although no abnormal voltage or electrograms were noted near the RIPV, AF terminated immediately upon its electrical isolation. Cytologic analysis of left atrial aspirate obtained near the RIPV revealed Class III atypical lymphoid cells. Post-ablation Positron emission tomography-CT demonstrated intense ^18F-fluorodeoxyglucose (FDG) uptake in the RIPV lesion, supporting metabolically active lymphoma. The patient remained arrhythmia-free without antiarrhythmic therapy at 1-month follow-up and was referred for haematologic treatment.

Discussion: This case illustrates a rare presentation of AF associated with recurrent lymphoma involving the RIPV. Although AF termination after RIPV isolation suggests a pulmonary vein-mediated mechanism, local tumour involvement may have facilitated AF initiation from the RIPV by increasing its arrhythmogenic potential. Multimodal imaging and intracardiac cytology enabled diagnosis without biopsy, while PFA provided safe and effective rhythm control in a structurally compromised region.

Background: Libman-Sacks endocarditis is a form of non-bacterial thrombotic endocarditis, associated with autoimmune conditions such as systemic lupus erythematosus and antiphospholipid syndrome (APLS). Vegetations are usually small and are managed with immunosuppression and anticoagulation.

Case summary: A 50-year-old female presented to her hospital with left leg weakness, with imaging showing a right parietal stroke and an old occipital lobe stroke. Inpatient transthoracic echocardiography showed a large mitral valve (MV) vegetation with moderate-to-severe mitral regurgitation (MR). She self-discharged against medical advice before further workup could be completed and was lost to follow-up until persuaded to have an outpatient transoesophageal echocardiogram, which showed severe MR with a large (2 cm × 3 cm) mass attached to the posterior MV leaflet. Blood cultures were negative. Review of previous blood tests showed a triple-positive APLS panel, which was positive on repeat testing. She underwent successful mechanical MV replacement. Valve histology was consistent with Libman-Sacks endocarditis. Warfarin therapy was continued, complicated by subdural haematoma (successfully treated), but with no further thrombo-embolic events. Subsequent anti-nuclear antigen testing was positive, and hydroxychloroquine was commenced. Transoesophageal echocardiography 1 year later showed a well-functioning MV prosthesis.

Discussion: The management of young individuals with ischaemic stroke should include attention to atypical causes. Libman-Sacks endocarditis is usually associated with small vegetations and high thrombotic risk, usually managed medically with anticoagulation and treatment of underlying conditions. Our case was atypical, with the presence of a large vegetation causing significant valvular dysfunction, but it demonstrates that replacement with mechanical prostheses can be a feasible management strategy.