The Asian Fabry Cardiomyopathy High-Risk Screening Study 2 (ASIAN-FAME-2): Prevalence of Fabry Disease in Patients with Left Ventricular Hypertrophy.

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder that commonly manifests cardiovascular complications. We aimed to assess the prevalence of FD in a Chinese population with left ventricular hypertrophy (LVH) whilst implementing a gender-specific screening approach. Methods: Patients with LVH, defined as a maximum thickness of the left ventricular septal/posterior wall ≥ 13 mm, were considered eligible. All patients with hypertrophic cardiomyopathy (HCM) were excluded. Plasma α-galactosidase (α-GLA) enzyme activity was assessed using a dried blood spot test. Males with low enzyme activity underwent genetic testing to confirm a diagnosis of FD whereas females were screened for both α-GLA and globotriaosylsphingosine concentration and underwent genetic analysis of the GLA gene only if testing positive for ≥1 parameter. Results: 426 unrelated patients (age = 64.6 ± 13.0 years; female: male = 113:313) were evaluated. FD was diagnosed in 3 unrelated patients (age = 69.0 ± 3.5 years, female: male = 1:2) and 1 related female subject (age = 43 years). Genetic analyses confirmed the late-onset cardiac variant GLA c.640-801G>A (n = 3) and the missense variant c.869T>C associated with classic FD (n = 1). Cardiac complications were the only significant findings associated with the late-onset c.640-801G>A mutation, manifesting as mild or severe concentric LVH. In contrast, the classic c.869T>C mutation FD exhibited multisystemic manifestations in addition to severe concentric LVH. Conclusions: The prevalence of FD is lower in Chinese patients with LVH when HCM is excluded. The pathological variant c.640-801G>A remains the most common cause of late-onset FD, while the detection of FD in females can be improved by utilizing a gender-specific screening method.

Synergistic Coronary Artery Calcium Modification With Combined Atherectomy and Intravascular Lithotripsy.

BACKGROUND: Severe coronary artery calcification (CAC) remains challenging during percutaneous coronary intervention (PCI) and often requires 1 or more advanced calcium modification tools. OBJECTIVES: We describe the combination use of rotational (RA) or orbital atherectomy (OA), with intravascular lithotripsy (IVL), termed rotatripsy and orbital-tripsy, respectively, for modifying CAC prior to stent implantation during PCI. METHODS: We performed a retrospective analysis of patients treated with rotatripsy or orbital-tripsy at our center between July 2019 and March 2022. The primary efficacy endpoint was procedural success (successful stent implantation, <30% residual stenosis visually, Thrombolysis in Myocardial Infarction 3 flow; absence of types C to F dissection/perforation or loss of side branch ≥2.0mm visually) without in-hospital major adverse cardiovascular event (MACE, defined as cardiovascular death, myocardial infarction [MI], target-vessel revascularization). RESULTS: A total of 25 patients (14 rotatripsy and 11 orbital-tripsy) were included in our study. The mean age was 72.2 ± 7.6 years and 76% were men. PCI was guided by intravascular imaging in 24 patients (96%). All cases were treated with either RA or OA before utilization of IVL. Procedural success was achieved in 22 cases (88%) with 1 sidebranch loss without periprocedural MI (4%) and 2 in-patient deaths (8%) unrelated to the procedure (1 intracerebral hemorrhage and 1 cardiac arrest). CONCLUSION: We describe efficacious use of both rotatripsy and orbital-tripsy to modify severe CAC during PCI in a real-world setting. Intravascular imaging can guide appropriate use of these devices to complement each other to modify severe CAC to achieve optimal outcomes.

High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME).

Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to determine the prevalence of FD in a non-selective patient population of everyday practice presenting with LVH, including those with hypertension and valve disease. We measured plasma alpha-galactosidase A activity using dried blood spot tests in 499 (age = 66 ± 13 years; 336 men) Hong Kong Chinese patients with LVH defined as maximal LV septal/posterior wall thickness ≥13 mm on echocardiography. Patients with low enzyme activity underwent mutation analysis of the GLA gene. Eight (age = 53-74 years; all men) unrelated patients (1.6%) had low plasma alpha-galactosidase A activity (0.57 ± 0.27 µmol/L wb/hr) and all were confirmed to have the GLA IVS4 + 919G > A mutation. FD patients presented with heart failure (n = 5), heart block (n = 2), ventricular tachycardia (n = 1), chest pain (n = 3), and/or murmur (n = 1). Uncontrolled hypertension (n = 4) and/or severe mitral/aortic valve pathology (n = 2) were frequent. Ethnic subgroups included Teochew (n = 5), Canton (n = 2), and Wenzhou (n = 1). Endomyocardial biopsy (n = 6) revealed hypertrophic myocytes with vacuolization and dense lamellar bodies. Late-onset IVS4 + 919G > A FD is prevalent among Chinese LVH patients, and should be considered as a cause of LVH in adult patients even when hypertension and/or valve pathology are present.

Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy.

Fabry Disease (FD) is a systemic disorder that can result in cardiovascular, renal, and neurovascular disease leading to reduced life expectancy. FD should be considered in the differential of all patients with unexplained left ventricular hypertrophy (LVH). We therefore performed a prospective screening study in Edmonton and Hong Kong using Dried Blood Spot (DBS) testing on patients with undiagnosed LVH. Participants found to have unexplained LVH on echocardiography were invited to participate and subsequently subjected to DBS testing. DBS testing was used to measure α-galactosidase (α-GAL) enzyme activity and for mutation analysis of the α-galactosidase (GLA) gene, both of which are required to make a diagnosis of FD. DBS testing was performed as a screening tool on patients (n = 266) in Edmonton and Hong Kong, allowing for detection of five patients with FD (2% prevalence of FD) and one patient with hydroxychloroquine-induced phenocopy. Left ventricular mass index (LVMI) by GLA genotype showed a higher LVMI in patients with IVS4 + 919G > A mutations compared to those without the mutation. Two patients were initiated on ERT and hydroxychloroquine was discontinued in the patient with a phenocopy of FD. Overall, we detected FD in 2% of our screening cohort using DBS testing as an effective and easy to administer screening tool in patients with unexplained LVH. Utilizing DBS testing to screen for FD in patients with otherwise undiagnosed LVH is clinically important due to the availability of effective therapies and the value of cascade screening in extended families.

May-Thurner Syndrome Results in Life-Threatening Condition: Phlegmasia Cerulea Dolens and Rhabdomyolysis.

Venography alone may underestimate the extent of common iliac vein compression in May-Thurner syndrome. Peripheral intravascular ultrasound is mandatory to better assess common iliac vein compression.

Critical Left Main Coronary Stenosis After Sutureless Aortic Valve Replacement.

Our case illustrates the feasibility of high-risk PCI to salvage LMCA stenosis, possibly caused by coronary injury during direct coronary cardioplegia for a recent triple-valve operation.

Urschel's Sign in Paget-Schroetter Syndrome: Multimodality Evaluation by Extravascular and Intravascular Imaging.

Paget-Schroetter Syndrome is potentially life-threatening. In this case, multidisciplinary imaging with extravascular and intravascular evaluation guided the proper diagnosis and treatment planning.

Lessons of the month 3: Duodenal perforation after polystyrene sulfonate.

Ion-exchange resins, sodium or calcium polystyrene sulfonate, are commonly used medications for management of hyperkalaemia. However, the drug can be associated with serious bowel injury. We report a case of a renal transplant recipient who developed duodenal ulcer perforation secondary to the use of calcium polystyrene sulfonate. Characteristic eosinophilic non-polarisable rhomboid shaped crystals were evident in the affected area of ulceration on histologic examination in addition to features of cytomegalovirus inclusions. We also hypothesised that gastroparesis secondary to autonomic dysfunction could have led to prolonged luminal contact time with polystyrene, further predisposing to bowel injury.

Optical Coherence Tomography Evaluation of Superficial Femoral Artery Directional Atherectomy.

To the best of our knowledge, this is the first report of optical coherence tomography evaluation of superficial femoral artery atherectomy in a patient from the Asia-Pacific region. We demonstrate the feasibility of this technique in Chinese populations.

Recanalization of Left Subclavian Vein Total Occlusion Jailed by Superior Vena Cava Stent Using Culotte Stenting Technique With a Dedicated Venous Stent.

This case demonstrates that the high radial strength of a dedicated nitinol venous stent is able to achieve good acute angiographic results and clinical efficacy.

Impact of Coronary Artery Chronic Total Occlusion on Arrhythmic and Mortality Outcomes: A Systematic Review and Meta-Analysis.

OBJECTIVES: This study aimed to examine the relationship between chronic coronary artery total occlusion (CTO) status and the occurrence of ventricular tachycardia (VT)/ventricular fibrillation (VF) or appropriate implantable cardioverter-defibrillator (ICD) therapy. BACKGROUND: CTO is a significant problem in patients with ischemic heart disease. However, the extent to which it predisposes affected individuals to VT/VF and whether these arrhythmic events could be prevented by revascularization are unclear. Therefore, a systematic review and meta-analysis were conducted to examine the relationship between CTO status and the occurrence of VT/VF or appropriate ICD therapy. METHODS: PubMed and Embase databases were searched until November 16, 2017, identifying 137 studies. RESULTS: Seventeen studies involving 54,594 subjects (mean age, 61 ± 21 years of age, 81% male) with a mean follow-up of 43 ± 31 months were included. The presence of CTO was associated with higher risk of VT/VF or appropriate ICD therapy (adjusted hazard ratio [aHR]: 1.99; 95% confidence interval (CI): 1.53 to 2.59; p < 0.0001, I2 = 3%) but not in cardiac mortality (aHR: 2.59; 95% CI: 0.64 to 10.59; p = 0.18, I2 = 86%) or in all-cause mortality (aHR: 1.70; 95% CI: 0.84 to 3.46; p = 0.14; I2 = 64%). Compared to patients with non-infarct-related CTOs, those with infarct-related CTOs have a higher risk of VT/VF or appropriate ICD therapy (aHR: 2.47; 95% CI: 1.76 to 3.46; p < 0.0001; I2 = 14%), cardiac mortality (aHR: 2.73; 95% CI: 1.02 to 7.30; p < 0.05; I2 = 79%) and higher all-cause mortality (aHR: 1.69; 95% CI: 1.19 to 2.40; p < 0.01; I2 = 40%). Nonrevascularization of CTOs tended to be associated with an increased risk of all-cause mortality compared to successful revascularization (unadjusted HR: 1.52; 95% CI: 0.96 to 2.43; p = 0.08; I2 = 76). CONCLUSIONS: CTOs, especially infarct-related, are associated with high risk of VT/VF or appropriate ICD therapy and mortality. ICD implantation could be beneficial. However, it is not clear that revascularization has an impact on the outcome of patients with CTOs.

Mother-and-Child Catheter-Induced Retrograde Dissection of the Left Main Coronary Artery During Optical Coherence Tomography Examination.

Optimal GuideLiner positioning for OCT acquisition in tortuous vessels requires special attention to avoid iatrogenic dissection.