While accessory mitral valves have been reported in association with ventricular outflow obstruction of Noonan syndrome, accessory tricuspid valves remain extremely rare. To the best of our knowledge, this is the first well-documented case report of this unique combination. We report a 2-month-old male infant with myocardial hypertrophy, who presented with progressive right ventricular outflow tract obstruction (RVOTO) caused by accessory tricuspid valve tissue. At referral, echocardiography revealed severe RVOTO due to the prolapse of accessory tricuspid valve tissue during systole. Cardiac catheterization revealed suprasystemic right ventricular pressure. Surgical resection of the accessory tissue led to immediate resolution of the RVOTO. Postoperatively, the patient was successfully managed with beta-blockers and discharged in stable condition. Although the combination of myocardial hypertrophy and accessory tricuspid valve tissue is rare, clinicians should be aware that it may lead to dynamic and potentially life-threatening hemodynamic deterioration due to RVOTO. Learning objective In neonates with Noonan syndrome, an accessory tricuspid valve leaflet can cause right ventricular outflow tract obstruction, and early surgical resection can prevent fatal hemodynamic deterioration.
Immunoglobulin G4-related disease (IgG4-RD) is a systemic inflammatory disorder that can rarely affect the coronary arteries, leading to acute coronary syndrome (ACS). A 68-year-old man with IgG4-RD presented with exertional chest pain. An electrocardiogram showing ST-segment elevation in II, III, aVF leads, and rising troponin levels confirmed ACS. Emergent coronary angiography (CAG) revealed right coronary artery occlusion, and intravascular ultrasound (IVUS) showed vasculitis-related coronary pathology. Based on these findings and the patient's clinical background, ACS secondary to IgG4-related coronary periarteritis (IgG4-related CP) was diagnosed. Because stent implantation for inflammation-associated lesions carries a high risk of restenosis, percutaneous coronary intervention (PCI) without stenting was performed. Plaque ablation was achieved using excimer laser coronary atherectomy, followed by angioplasty with a drug-coated balloon. Post-PCI coronary computed tomography angiography demonstrated perivascular soft tissue around the culprit lesion, suggestive of ongoing inflammation. Follow-up CAG and IVUS confirmed good patency without restenosis after intensification of steroid therapy. This case highlights the complexity of ACS secondary to IgG4-related CP. Coronary involvement in IgG4-RD remains under-recognized, necessitating a high index of suspicion and multimodal imaging for diagnosis. Learning objective:Although rare, immunoglobulin G4-related coronary involvement should be considered a potential cause of acute coronary syndrome. Awareness of this entity and a multidisciplinary, multimodality imaging-based approach, including serial coronary computed tomography and intravascular ultrasound to assess treatment response, are essential for optimal management. In cases with insufficient response to corticosteroids, additional immunosuppressive therapy may be required.
Reflex syncope in hypertrophic cardiomyopathy (HCM) poses diagnostic challenges and may lead to pacemaker implantation when associated with cardioinhibitory responses. Cardioneuroablation (CNA), targeting parasympathetic cardiac ganglionated plexi, has emerged as an alternative treatment for recurrent reflex syncope in young patients, although evidence in HCM is lacking. A 27-year-old man with recurrent reflex syncope, unresponsive to lifestyle measures and midodrine, was referred to our center after his implantable loop recorder documented episodes of 2:1 atrioventricular block and sinus arrests of up to 6 s, occurring during syncopal events, with no evidence of ventricular arrhythmias. Investigations revealed early-stage non-obstructive HCM with a low risk of sudden cardiac death (HCM Risk-SCD score 1.3%). Following multidisciplinary discussion, CNA was performed using a bi-atrial anatomically guided approach targeting major cardiac ganglionated plexi. The procedure achieved complete vagal denervation without complications. At 12-month follow-up, the patient remained asymptomatic, with stable sinus rhythm and no malignant arrhythmias. This case illustrates that CNA may be a feasible and safe alternative to pacing in selected HCM patients with recurrent cardioinhibitory syncope. Learning objective Reflex syncope can occur in patients with hypertrophic cardiomyopathy (HCM). Careful evaluation is essential to exclude arrhythmic and obstructive causes of syncope. Cardioneuroablation (CNA) may prevent pacemaker implantation in selected patients with early-stage HCM and recurrent cardioinhibitory syncope. However, the potential pro-arrhythmogenic effects of CNA in HCM remain unclear. While early outcomes appear favorable, the long-term safety of this procedure requires further investigation.
Pseudoaneurysm of the mitral–aortic intervalvular fibrosa is a rare and typically acquired cardiac lesion, with congenital forms being exceptionally uncommon, particularly when identified prenatally. We report the case of a 23-year-old gravida 2 woman with one previous history of miscarriage who was referred at 25 weeks' gestation for a fetal intracardiac mass. Fetal echocardiography revealed a cystic echogenic mass at the crux of the heart, consistent with a pseudoaneurysm arising from the mitral-pulmonary intervalvular fibrosa (MPIVF) associated with transposition of the great arteries, causing severe left ventricular outflow tract obstruction or subvalvular pulmonary stenosis. The cardiac lesion was also associated with a large mid-muscular ventricular septal defect alongside a small left ventricle suggestive of single-ventricle physiology. This constellation of findings pointed to a diagnosis of complex cyanotic congenital heart disease with possible ductal-dependent pulmonary circulation. Prenatal diagnosis enabled early parental counseling, planning for delivery at a tertiary cardiac center, and postnatal preparation for prostaglandin therapy and surgical evaluation. This case highlights the importance of recognizing MPIVF pseudoaneurysm in the fetal period, particularly when associated with obstructive physiology or major structural anomalies, and contributes to the limited literature on congenital variants of this condition. Learning objective Pseudoaneurysm of the mitral–pulmonary intervalvular fibrosa is an exceptionally rare congenital lesion. Its association with transposition of the great arteries, ventricular septal defect, and left ventricular outflow tract obstruction has important prognostic and surgical implications. Prenatal echocardiography is key for recognition, particularly when there is a cystic or echogenic intracardiac mass with a to-and-fro Doppler flow near the atrioventricular junction. Prenatal echocardiography is crucial for early counseling and planned delivery at a tertiary cardiac center.
An adolescent boy with idiopathic pulmonary arterial hypertension (iPAH) presented with persistent pulmonary hypertension with right ventricular dysfunction despite upfront oral triple combination therapy. Additional sotatercept treatment led to a striking improvement in pulmonary hemodynamics and right ventricular function without adverse side effects. Sotatercept, recently approved for use in adult patients with PAH, may be an effective and safe therapeutic option for pediatric patients with iPAH. Further studies are needed to confirm the long-term efficacy and safety of this treatment strategy. Learning objective Sotatercept may be considered as an additional therapy for pediatric patients with idiopathic pulmonary arterial hypertension. Sotatercept treatment in children with idiopathic pulmonary arterial hypertension should be evaluated further.
Restrictive cardiomyopathy (RCM) is a rare pediatric cardiomyopathy characterized by ventricular diastolic dysfunction, and poor prognosis that often requires heart transplantation. We report the case of a 7-year-old boy with RCM complicated by complete atrioventricular block (CAVB) in whom pathological examination of the explanted heart demonstrated extensive fibrosis involving the cardiac conduction system. At 1 year and 9 months of age, the patient presented with arrhythmia. Echocardiography revealed marked biatrial enlargement and small ventricles. Cardiac catheterization demonstrated elevated filling pressures confirming RCM. One month after diagnosis, the patient developed severe bradycardia and circulatory collapse, requiring extracorporeal membrane oxygenation. Electrocardiography revealed complete atrioventricular (AV) block, and a permanent pacemaker (PM) was implanted. Despite recurrent heart failure episodes, cardiac function was maintained with medical therapy, including carvedilol and enalapril, without mechanical circulatory support until heart transplantation at 5 years of age. Pathology of the explanted heart revealed extensive interstitial fibrosis involving the conduction system, suggesting that conduction tissue fibrosis caused the CAVB. These findings provide pathological insight into the mechanism of advanced atrioventricular block in pediatric RCM. This case demonstrates that RCM may progress from first-degree AV block to CAVB due to conduction fibrosis. Learning objective Understanding the clinical and pathological progression of restrictive cardiomyopathy (RCM) complicated by complete atrioventricular block in children is important. This case illustrates that fibrosis of the conduction system can lead to severe bradycardia and circulatory collapse, highlighting the importance of the early detection of conduction abnormalities and timely pacemaker implantation. It has also been demonstrated that appropriate medical therapy combined with pacemaker management can effectively bridge pediatric patients with RCM to heart transplantation.
Aorto-right ventricular fistula (ARVF) is a rare complication of transcatheter aortic valve replacement (TAVR) with limited evidence to guide its treatment. Five months following TAVR, an 82-year-old woman complained of edema and dyspnea. ARVF was confirmed by echocardiography, which revealed a shunt flow originating at the site of the prosthetic valve to the right ventricle. Unlike continuous shunt flow published in the literature, in this case the flow was observed distinctly during diastole. This situation was attributed to the prosthetic valve opening during systole, interrupting the shunt flow. After refusing invasive treatment, she was treated conservatively. As TAVR becomes more common, we will encounter this rare consequence more often. To determine the best management techniques for this rare condition, more research is required. Learning objective Aorto-right ventricular fistula (ARVF), a rare complication of transcatheter aortic valve replacement (TAVR), can manifest with varying localizations and hemodynamic characteristics. An ARVF with flow controlled by the aortic cusp is reported here for the first time. Patients post-TAVR should undergo long-term echocardiographic follow-up for ARVF as well.
Iatrogenic atrial septal defect (iASD) is commonly thought to reduce in size and close spontaneously. Hereby, we report a case of iASD which unusually enlarged very late. An 89-year-old male was referred to our hospital because of worsening of heart failure which was considered due to atrial septal defect. He underwent a cryoballoon ablation for atrial fibrillation (AF) 5-years before. Three months before presentation, he was admitted to the local hospital because of exacerbation of heart failure, and recurrence of AF was documented. Within 3 months after first heart failure hospitalization, he had to be hospitalized multiple times because of heart failure exacerbation. To investigate the causes of heart failure, transthoracic echocardiography was performed, which showed a large ASD with an estimated Qp/Qs ratio of 1.79. Right heart catheterization confirmed a left-to-right shunt with a Qp/Qs ratio of 2.52. Transesophageal echocardiography also revealed a large ASD of 15 ∗ 10 mm; very late enlargement of iASD was detected 5 years after the primary cryoballoon ablation. Finally, transcatheter ASD closure was performed, which resulted in improvement of symptoms. This case report highlights the occurrence of very late enlargement of iASD after Brockenbrough procedure and the positive outcome achieved with successful transcatheter ASD closure. Learning objective Iatrogenic atrial septal defects after transseptal puncture can enlarge even years after the procedure and cause clinically significant heart failure; therefore, long-term monitoring of symptoms and hemodynamics is essential.
Redo transcatheter aortic valve replacement (TAVR) in nonagenarians is rare, but redo transapical TAVR in a nonagenarian is extremely rare. We present the case of a 95-year-old woman with decompensated aortic valve stenosis due to degeneration of the transapical TAVR (S3 23, Edwards Lifesciences, Irvine, CA, USA) performed 8 years previously. Learning objective Repeat transapical transcatheter aortic valve replacement is a feasible bailout strategy in highly selected patients when transvascular access is not possible. Despite its declining use, maintaining expertise in transapical access remains essential for future structural heart programs.
Mitral annular calcification (MAC) is the most common calcific disorder of the mitral valve; however, other calcified lesions, including cardiac calcified amorphous tumor (CAT) and its highly mobile subtype, swinging CAT (S-CAT), have been reported. These entities differ markedly in their growth patterns and structural characteristics. This study aimed to clarify the mechanism underlying the development of S-CAT arising from MAC by focusing on detailed pathological findings of resected specimens, particularly along the long-axis. Histopathological analysis demonstrated that the lesion could be divided into three distinct zones, each characterized by different morphologies of calcified nodules and varying degrees of inflammatory cell infiltration. In particular, the distribution of macrophages and neutrophils differed among these regions, suggesting heterogeneity in inflammatory exposure over time. These findings indicate that localized and time-dependent inflammatory processes associated with circulating blood components may contribute to the development of S-CAT on the roughened endocardial surface overlying pre-existing MAC. Furthermore, clinical backgrounds frequently included end-stage renal disease, diabetes mellitus, obesity, and hypercholesterolemia, supporting the role of systemic metabolic and inflammatory conditions in this process. Understanding these pathological features may provide insight into the pathogenesis of S-CAT and its clinical behavior. Learning objective Previous pathological reports of swinging cardiac calcified amorphous tumor (S-CAT) have mainly focused on the distal tip of the lesion. By examining longitudinal pathological specimens from root to tip, this case demonstrates distinct regional histological differences and suggests that S-CAT develops through a chronological process involving thrombosis, inflammation, and progressive calcification arising from mitral annular calcification.
Fabry disease (FD), a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leads to progressive glycosphingolipids accumulation and multi-organ dysfunction. Cardiac involvement in FD is the most common cause of mortality. We report a patient with predominant cardiac manifestations characterized by severe left ventricular hypertrophy (LVH) accompanied by left ventricular outflow tract (LVOT) obstruction and extensive myocardial fibrosis. Despite initiating enzyme replacement therapy, the patient's heart failure symptoms progressively worsened. No significant improvement was observed in LVH and LVOT. Consequently, a modified extended septal myectomy (MESM) was performed, resulting in remarkable hemodynamic improvement postoperatively. This report adds to the evidence supporting MESM in Fabry cardiomyopathy patients with LVOT obstruction. Learning objective 1. Fabry cardiomyopathy with left ventricular outflow tract (LVOT) obstruction is relatively rare and can easily be misdiagnosed as hypertrophic obstructive cardiomyopathy. 2. Modified extended septal myectomy can effectively alleviate the LVOT obstruction, relieve heart failure symptoms, and improve patient prognosis.
We describe the case of a 22-year-old woman. She was referred to our hospital at 1 month of age for evaluation of a suspected cardiac tumor that had been incidentally identified by transthoracic echocardiography (TTE) during her infant check-up prompted by poor weight gain. Initial TTE at our institution revealed a mass-like structure protruding into the left atrium, extending from the subaortic curtain of the left ventricular outflow tract to the anterior mitral leaflet, with a partially cystic appearance. Color M-mode imaging demonstrated flow signals characterized by inflow into the structure during left ventricular systole and outflow toward the left ventricular outflow tract during diastole. Coronary angiography was unremarkable, while left ventriculography revealed a saccular structure immediately beneath the aortic valve, consistent with a congenital aortic subannular left ventricular aneurysm. As the lesion was isolated without functional impairment, the patient was managed conservatively with aspirin for thrombosis prophylaxis and scheduled for annual TTE follow-up. Over 22 years, the aneurysm showed no significant change in size, the cystic component remained stable, and bidirectional flow persisted. The patient continues to be free of complications, including rupture, infection, thrombosis, arrhythmia, or heart failure. Learning objective This case report highlights the long-term clinical observation and conservative management of congenital aortic subannular left ventricular aneurysms. Of note, although there was a suspicion of cardiac tumor, the patient was finally diagnosed with left ventricular aneurysms based on transthoracic echocardiography, angiography, and magnetic resonance imaging findings. Over 22 years, the aneurysm showed no significant change in size, getting smaller relative to cardiovascular structures; the patient continued to be free of complications, including rupture, infection, thrombosis, arrhythmia, or heart failure on thrombus prophylaxis.
Two patients with sick sinus syndrome and heart failure were treated with atrial leadless pacing. Case 1 demonstrated hemodynamic improvement with cardiac output increase (3.0 → 5.1 L/min), B-type natriuretic peptide (BNP) reduction (3223 → 480 pg/mL), and New York Heart Association class improvement (III → I) following Aveir dual-chamber leadless pacemaker (Abbott Medical, Inc., Plymouth, MN, USA) implantation. Case 2, at high infection risk with mechanical valve and prior endocarditis, received hybrid therapy combining atrial fibrillation ablation, Aveir atrial pacing, and subcutaneous implantable cardioverter-defibrillator implantation, achieving left ventricular ejection fraction improvement (20 → 38%) and BNP reduction (321 → 28 pg/mL). Atrial leadless pacing may represent a therapeutic option in selected patients with preserved atrioventricular conduction or high infection risk requiring physiologic pacing. Learning objective This case report demonstrates that atrial leadless pacing can be an effective treatment option for patients with sick sinus syndrome complicated by heart failure when conventional transvenous atrial pacing is undesirable. In one of the presented cases, the feasibility of combining a leadless pacemaker with a subcutaneous implantable cardioverter-defibrillator is also illustrated, providing insight into a potential lead-free device strategy.
A 75-year-old woman with left central retinal vein occlusion and left macular edema was diagnosed with hypertension. During screening using cardiac ultrasonography, a right atrial tumor was incidentally detected. Tumor resection was performed via median sternotomy. Cardiopulmonary bypass was established using ascending aortic perfusion and superior vena cava/right femoral vein drainage. The 20 mm pedunculated mass attached to the caudal aspect of the fossa ovalis was excised en bloc with the atrial septum, and the defect was repaired with an autologous pericardial patch. The postoperative course was uneventful. Pathologically, the tumor was diagnosed as a cardiac varix consisting of a cyst lined by a single layer of cells containing fibrin clots with internal calcification. No myxoma features were observed. Cardiac varix is an extremely rare condition (representing only 0.07% of cardiac tumors) with very few reported cases. This case report documents clinical experience with surgical intervention for this rare disease and discusses the distinguishing examination findings and pathological features compared to other tumors, such as myxoma. Learning objective This case report presents a rare cardiac varix and highlights its key differences from myxomas through radiological and sonographic comparisons. It details the distinguishing features, including the location, internal structures, and histological findings. This case demonstrates successful surgical management and provides important learning points for clinicians, enriching the limited literature on cardiac varix.
