European Heart Journal: Case Reports最新文献

[This corrects the article DOI: 10.1093/ehjcr/ytaf266.].

Background: Morquio syndrome (MPS IV) is a rare multi-systemic disorder with significant cardiovascular implications, including early-onset valvular disease. Due to the improved life expectancy, these patients could require complex interventional solutions such as TAVI-in-TAVI procedure.

Case summary: We present the first reported case of a 65-year-old woman with Morquio syndrome undergoing a TAVI-in-TAVI procedure for structural degeneration of a prior transcatheter bioprosthetic valve. The procedure was technically challenging due to complex thoracic anatomy, small aortic annulus, and intermediate-risk of coronary obstruction. A self-expanding Evolut FX + valve were successfully implanted with favourable haemodynamic outcomes and no major complications.

Conclusion: This case highlights the feasibility and importance of individualized planning in complex redo-TAVI interventions in patients with rare congenital disorders.

Background: Reninoma, a rare juxtaglomerular cell tumour, causes secondary hypertension due to renin hypersecretion. Despite characteristic biochemical features (hypertension, hypokalaemia, and elevated renin-angiotensin-aldosterone system activity), diagnostic challenges persist due to its rarity and phenotypic heterogeneity.

Case summary: We reported two young males with surgically cured hypertension secondary to renin-secreting juxtaglomerular cell tumours. Both presented with refractory hypertension and hypokalaemia. They exhibited discordant renin levels but shared concordant imaging findings. Post-operative pathological immunohistochemistry definitive confirmed reninoma.

Discussion: Our cases highlight the diagnostic challenges of reninoma. In hypertensive patients with hypokalaemia, reninoma should be considered despite its rarity. Normal plasma renin activity cannot definitively exclude reninoma. We recommend plasma renin concentration testing alongside multimodality imaging-contrast-enhanced computed tomography (CT), magnetic resonance imaging, and contrast-enhanced ultrasound to facilitate diagnosis. Both cases were ultimately confirmed by definitive immunohistochemical pathology.

Background: Transcatheter tricuspid valve repair is an increasingly performed procedure, which improves quality of life in selected patients with severe tricuspid regurgitation (TR). For the evaluation of the appropriateness of this procedure, identification of the exact mechanism(s) underlying TR is mandatory. Guidelines recommend right heart catheterization (RHC) as part of the work-up in these patients.

Case summary: A 80-year-old man with shortness of breath, atrial fibrillation, and severe TR was referred for transcatheter repair. Echocardiography showed a preserved left ventricular ejection fraction, a dilated right ventricle with impaired function, severe functional TR, and a high probability of pulmonary hypertension (PH). Right heart catheterization revealed a mean pulmonary artery (PA) pressure of 34 mmHg and a mean PA wedge pressure (mPAWP) of 18 mmHg. The PA oxygen saturation was 79%, and an anomalous vessel draining into the superior vena cava with an oxygen saturation of 97% was found, which was identified as partial anomalous pulmonary venous return with a left-to-right shunt (ratio of pulmonary to systemic blood flow of 1.8:1.0). The increased pulmonary blood flow and a mildly elevated pulmonary vascular resistance of 2.3 Wood units resulted in an increased transpulmonary gradient, which added to an elevated mPAWP (heart failure with preserved ejection fraction) led to combined pre- and post-capillary PH.

Discussion: This case highlights the importance of RHC in the evaluation of patients with severe TR. Here, TR was the result of right ventricular volume and pressure overload with very limited treatment options, and percutaneous repair was not appropriate.