Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands.

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a potentially life-threatening genetic cardiomyopathy with a spectrum of clinical presentations including sudden cardiac death (SCD). METHODS: Clinical and genetic data of 44 probands referred to a cardiac genetics clinic (2007-2017) who met 2010 Task Force Criteria (TFC) for ARVC diagnosis were included. RESULTS: Thirty-three (33) (75%) male, 20 (45%) were referred by the Victorian Institute of Forensic Medicine. Presentation that lead to diagnosis included ARVC-related SCD (n=19), SCD due to alternate cause of death (n=1), aborted cardiac arrest (n=6), stable symptomatic ventricular tachycardia (n=14), palpitations (n=3) and presyncope (n=1). Left ventricular involvement (50%) was more common in the SCD subgroup (84% vs 21%, p<0.001). Genetic testing (n=39) revealed a pathogenic mutation in 16 (commonest: plakophillin-2 (n=9)), a variant of uncertain significance (VUS) in 15, with no abnormality in eight. In the SCD subgroup, median age at death was 44.7 years and 74% were male. Genetic testing (n=16) in this subgroup revealed a pathogenic mutation in six patients (commonest: desmoplakin (n=4)). Comparison of the two commonest mutations (PKP2 and desmoplakin [DSP]) showed DSP mutation was more frequently associated with SCD (p<0.01) and LV involvement (p<0.001). Screening of 117 relatives has lead to ARVC diagnosis in 29 patients. CONCLUSIONS: Arrhythmogenic right ventricular cardiomyopathy has a heterogeneous and often severe clinical presentation. Sudden cardiac death and aborted cardiac arrest (ACA) are common, demonstrating electrical abnormalities appear early in the ARVC phenotype. Left ventricular involvement was common and may reflect a worse prognosis. Genetic testing is essential in family screening and may be helpful in risk assessment. Desmoplakin mutation is associated with LV involvement and may be indicative of worse prognosis and increased risk of SCD. Genetic screening of proband family members in a specialised multidisciplinary clinic is essential in early diagnosis of affected family members.

Diagnostic Value of Aortic Valve Calcification Levels in the Assessment of Low-Gradient Aortic Stenosis.

BACKGROUND: In patients with low-gradient aortic stenosis (AS) and low transvalvular flow, dobutamine stress echocardiography (DSE) is recommended to determine AS severity, whereas the degree of aortic valve calcification (AVC) supposedly correlates with AS severity according to current European and American guidelines. OBJECTIVES: The purpose of this study was to assess the relationship between AVC and AS severity as determined using echocardiography and DSE in patients with aortic valve area <1 cm2 and peak aortic valve velocity <4.0 m/s. METHODS: All patients underwent DSE to determine AS severity and multislice computed tomography to quantify AVC. Receiver-operating characteristics curve analysis was used to assess the diagnostic value of AVC for AS severity grading as determined using echocardiography and DSE in men and women. RESULTS: A total of 214 patients were included. Median age was 78 years (25th-75th percentile: 71-84 years) and 25% were women. Left ventricular ejection fraction was reduced (<50%) in 197 (92.1%) patients. Severe AS was diagnosed in 106 patients (49.5%). Moderate AS was diagnosed in 108 patients (50.5%; in 77 based on resting transthoracic echocardiography, in 31 confirmed using DSE). AVC score was high (≥2,000 for men or ≥1,200 for women) in 47 (44.3%) patients with severe AS and in 47 (43.5%) patients with moderate AS. AVC sensitivity was 44.3%, specificity was 56.5%, and positive and negative predictive values for severe AS were 50.0% and 50.8%, respectively. Area under the receiver-operating characteristics curve was 0.508 for men and 0.524 for women. CONCLUSIONS: Multi-slice computed tomography-derived AVC scores showed poor discrimination between grades of AS severity using DSE and cannot replace DSE in the diagnostic work-up of low-gradient severe AS.

New therapeutic approach for tricuspid regurgitation: Transcatheter tricuspid valve replacement or repair.

The tricuspid valve is a complex structure with normal function dependent on the leaflet morphology, right atrial and annular dynamics, and right ventricular and chordal support. Thus, the pathophysiology of tricuspid regurgitation (TR) is equally complex and current medical and surgical management options are limited. Transcatheter devices are currently being investigated as possible treatment options with lower morbidity and mortality than open surgical procedures. These devices can be divided by their implant location/mechanism of action: leaflet approximation devices, annuloplasty devices, orthotopic valve implants, and heterotopic valve implants. The current review will discuss each class of transcatheter device therapy, and further delve into the current understanding of who and when to treat. Finally, we will include a brief discussion of the future of device and surgical therapy trials for TR and the remaining questions to answer about this complex disease process.

Transcatheter Tricuspid Valve Replacement With Novel Self-Expanding Valve: Secure Fixation in Insecure Anatomy.

Current transcatheter tricuspid therapies vary by design with different mechanisms of fixation, anchoring, and therapy. This is the first published report of transfemoral tricuspid valve replacement with the Intrepid device, a valve designed to anchor from annular perimeter oversizing, to treat torrential tricuspid regurgitation from leaflet impingement secondary to a ventricular septal defect occluder. (Level of Difficulty: Advanced.).

Zero-Contrast Left Atrial Appendage Occlusion Using a Hybrid Echocardiography-Fluoroscopy Technique Without Iodinated Contrast.

Contrast exposure during left atrial appendage occlusion may be harmful in those with chronic kidney disease or allergy. This single-center registry (n = 31) demonstrates the feasibility and safety of zero-contrast percutaneous left atrial appendage occlusion using echocardiography, fluoroscopy, and fusion imaging, with 100% procedural success and no device complications at 45 days.

3D Intracardiac Echocardiography in Mitral Transcatheter Edge-to-Edge Repair: When TEE Is Hard to Stomach.

Intracardiac echocardiography (ICE) has historically had limited utility in complex structural interventions. Newer 3-dimensional ICE catheters have enhanced imaging and real-time functionality. We present a novel case of mitral valve transcatheter edge-to-edge repair where transesophageal imaging was limited by massive hiatal hernia and where complementary 3D ICE imaging enabled procedural success. (Level of Difficulty: Intermediate.).

A systematic review and meta-analysis evaluating ischemic conditioning during percutaneous coronary intervention.

AIM: A systematic review and meta-analysis, evaluating ischemic conditioning during percutaneous coronary intervention (PCI). METHODS & RESULTS: A database search of randomized trials of ischemic conditioning in PCI created three subgroups for meta-analysis: mortality in elective PCI with remote ischemic preconditioning (RIPreC; subgroup 1a, n = 3) - no outcome difference between RIPreC and control (odds ratio: 0.34; 95% CI: 0.08-1.56), myocardial salvage index in ST-elevation myocardial infarction (STEMI) with RIPreC (subgroup 1b, n = 2) - favored RIPreC (mean difference: 0.13; 95% CI: 0.07-0.19), and infarct size in STEMI with local ischemic postconditioning (LIPostC) (subgroup 4b, n = 12) - favored LIPostC (mean difference: -4.13 g.m-2; 95% CI: -7.36 to -0.90 g.m-2). CONCLUSION: RIPreC and LIPostC improve myocardial salvage index and myocardial infarct size respectively in PCI for STEMI. No mortality benefit detected with RIPreC in elective PCI.