The role of surgical transcatheter valve implantation for the treatment of severe mitral annular calcification.

With a rise in the aging population, mitral annular calcification is increasingly encountered with an incidence of 10% in over 70 years old. This with increasing patient comorbidities presents a technical challenge due to the risk of atrioventricular disruption which is associated with high operative mortality of up to 75%. We describe two cases of severe mitral disease with marked annular calcification successfully treated with a balloon expandable transcatheter valve which was deployed on cardiopulmonary bypass via a trans-atrial approach.

Variantes que mantienen el marco de lectura en el dominio Rod 1 proximal del gen FLNA se asocian con un predominio del fenotipo valvula / In-frame variants in FLNA proximal Rod 1 domain associate with a predominant cardiac valvular phenotype

Introducción y objetivos: La displasia valvular cardiaca ligada al cromosoma X es una cardiopatía congénita rara específica del sexo masculino y caracterizada principalmente por una degeneración mixomatosa de las válvulas auriculoventriculares con consecuencias hemodinámicas variables. Se debe a defectos genéticos en la filamina A (codificada por FLNA), una proteína de unión a actina de expresión ubicua que regula la organización del citoesqueleto. La pérdida de función de la filamina A también se ha asociado con manifestaciones neurológicas y del tejido conectivo a menudo simultáneas, y aparentemente las mutaciones en la primera mitad del dominio Rod 1 expresan el fenotipo cardiaco completo. En esta familia de nueva descripción, se ha contribuido a las correlaciones genotipo-fenotipo previas con un enfoque multidisciplinario. Métodos: La evaluación cardiológica, dismorfológica y genética de los miembros disponibles se complementó con estudios de la transcripción y de la inactivación del cromosoma X. Resultados: La nueva mutación de FLNA c.1066-3C>G cosegregaba con un fenotipo cardiaco aparentemente aislado y expresado en los varones, sin que hubiera un sesgo en el patrón de inactivación del cromosoma X en las mujeres portadoras. Esta variante resultó en una deleción dentro del marco de lectura de 8 residuos de aminoácidos cercanos a la región N-terminal de la proteína. Conclusiones: La pérdida de función parcial y no sometida a impronta del dominio Rod 1 proximal de la filamina A parece ser el mecanismo patogénico de la displasia valvular cardiaca, expresada en algunos casos con manifestaciones extracardiacas

Introduction and objectives: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype. We contribute to previous genotype-phenotype correlations with a multidisciplinary approach in a newly-described family. Methods: Cardiologic, dysmorphologic, and genetic evaluation of available members were complemented with transcriptional and X-chromosome inactivation studies. Results: A novel FLNA mutation c.1066-3C>G cosegregated with a male-expressed, apparently isolated, cardiac phenotype with no skewed X-inactivation pattern in female carriers. This variant was shown to result in an in-frame deletion of 8 amino acid residues near the N-terminal region of the protein. Conclusions: A nonimprinted, partial loss of function of filamin A proximal Rod 1 domain seems to be the pathogenetic mechanism of cardiac valvular dysplasia, with some cases occasionally expressing associated extracardiac manifestations

Rescate transfemoral en un dispositivo TAVI transapical mal posicionado / Transfemoral rescue for a transapical malpositioned TAVI device

No disponible

Spontaneous closure of a large left ventricular pseudoaneurysm after mitral valve replacement.

Left ventricular pseudoaneurysm is a rare, but potentially fatal, condition that generally occurs as a complication of myocardial infarction, infective endocarditis, or cardiac surgery. Surgical repair is the treatment of first choice because of the marked risk of rupture, but deteriorated hemodynamics and complicated procedures to treat the pseudoaneurysm may lead to a high mortality rate. We report a 62-year-old woman with a large left ventricular pseudoaneurysm after mitral valve replacement for rheumatic mitral valve stenosis. Surgical repair was not performed due to the patient's refusal, but her pseudoaneurysm resolved spontaneously by 2 years after mitral valve replacement. Spontaneous obliteration of a large left ventricular pseudoaneurysm is very rare in a patient on warfarin therapy. This case suggests that a left ventricular pseudoaneurysm with a narrow neck may resolve spontaneously in rare settings.

Characteristics and Outcomes of Patients With Severe Bioprosthetic Aortic Valve Stenosis Undergoing Redo Surgical Aortic Valve Replacement.

BACKGROUND: With improved event-free survival of patients undergoing primary bioprosthetic aortic valve replacement (AVR), reoperation to relieve severe prosthetic aortic stenosis (PAS) is increasing. We sought to (1) identify of the characteristics of patients with severe bioprosthetic PAS undergoing redo AVR, and (2) assess the outcomes of these patients, along with factors associated with adverse outcomes. METHODS AND RESULTS: We studied 276 patients with severe bioprosthetic PAS (64±16 years, 58% men) who underwent redo-AVR between 2000 and 2012 (excluding mechanical PAS, severe other valve disease, and transcatheter AVR). Society of Thoracic Surgeons score was calculated. Severe PAS was defined as AV area <0.8 cm(2), mean AV gradient ≥40 mm Hg, or dimensionless index <0.25. A composite outcome of death and congestive heart failure admission was recorded. Mean Society of Thoracic Surgeons score and mean AV gradients were 8±8 and 53±17 mm Hg, whereas 28% had >II+ aortic regurgitation. Only 39% had an isolated redo AVR, the rest were combination surgeries (coronary bypass and/or aortic surgeries). At 4.2±3 years, 64 (23%) patients met the composite end point (48 deaths and 19 congestive heart failure admissions, 2.5% 30-day deaths). On multivariable Cox survival analysis, higher Society of Thoracic Surgeons score (hazard ratio, 1.35), higher grades of aortic regurgitation (hazard ratio, 1.29), and higher right ventricular systolic pressure (hazard ratio, 1.3) were associated with worse longer-term outcomes (all P<0.01). CONCLUSIONS: At an experienced center, in patients with severe bioprosthetic PAS undergoing redo AVR, the majority undergo combination surgeries but have excellent outcomes.

Prolapse of all cardiac valves in Noonan syndrome.

Noonan syndrome is an autosomal dominant disorder with genetically heterogeneous inheritance. The incidence of cardiac abnormalities is higher in patients with Noonan syndrome and approximately 80% patients with Noonan syndrome are reported to have cardiac abnormalities during their lifetimes. However, polyvalvular disease in Noonan syndrome is rare. In this case-report, we describe a case of a young man whose features were strongly suggestive of Noonan syndrome and who was diagnosed with prolapse of all four cardiac valves after 22 years of uneventful survival.

Paravalvular regurgitation after transcatheter aortic valve replacement with the Edwards sapien valve in the PARTNER trial: characterizing patients and impact on outcomes.

AIM: The impact of paravalvular regurgitation (PVR) following transcatheter aortic valve replacement (TAVR) remains uncertain. In this analysis, we sought to evaluate the impact of varying degrees of PVR on both mortality and changes in ventricular geometry and function. METHODS AND RESULTS: Clinical and echocardiographic outcomes of patients who underwent TAVR from the randomized cohorts and continued access registries in the PARTNER trial were analysed after stratifying by severity of post-implant PVR, which was graded as none/trace in 52.9% (n = 1288), mild in 38.0% (n = 925), and moderate/severe in 9.1% (n = 221). There were significant differences in baseline clinical and echocardiographic characteristics. After TAVR, all the patients demonstrated increase in left ventricular (LV) function and reduction in the LV mass index, although the magnitude of mass regression was lower in the moderate/severe PVR group. The 30-day mortality (3.1 vs. 3.4 vs. 4.5%, P = 0.56) and stroke (3.4 vs. 3.7 vs. 2.3%, P = 0.59) were similar in all groups (none/trace, mild, and moderate/severe). At 1 year, there was increased all-cause mortality (15.9 vs. 22.2 vs. 35.1%, P < 0.0001), cardiac mortality (6.1 vs. 7.4% vs. 16.3%, P < 0.0001) and re-hospitalization (14.4 vs. 23.0 vs. 31.3%, P < 0.0001) with worsening PVR. A multivariable analysis indicated that the presence of moderate/severe PVR (HR: 2.18, 95% CI: 1.57-3.02, P < 0.0001) or mild PVR (HR: 1.37, 95% CI: 1.14-1.90, P = 0.012) was associated with higher late mortality. CONCLUSION: Differences in baseline characteristics in patients with increasing severities of PVR may increase the risk of this complication. Despite these differences, multivariable analysis demonstrated that both mild and moderate/severe PVR predicted higher 1-year mortality.

Percutaneous management of RetroFlex 3 balloon rupture and separation of the Edwards Sapien delivery system.

We report the case of an 85-year-old woman with severe aortic stenosis who underwent transcatheter aortic valve replacement with use of the Edwards Sapien(®) valve system. The procedure was complicated by rupture of the valve-deployment balloon, with separation and retention of the nose cone of the RetroFlex 3(®) delivery system in the iliac artery. Our endovascular retrieval of the equipment was successful, and we achieved access-site hemostasis by deploying a covered stent. To our knowledge, this is the first report of the endovascular retrieval of a malfunctioning delivery system during transcatheter aortic valve replacement.

Thromboelastography to monitor the intra-operative effects of low-molecular weight heparin following bridging anticoagulation in a child with normal renal function*.

Paediatric patients who require anticoagulation with therapeutic doses of low-molecular weight heparin are at risk of having a residual anticoagulant effect at the time of surgery, even if managed according to current peri-operative guidelines. Testing for residual effect is not currently recommended in such circumstances. A 15-year-old child with a mechanical aortic valve replacement requiring long-term warfarin treatment, as well as underlying coagulation defects, was administered low-molecular weight heparin for bridging anticoagulation before kyphoscoliosis surgery. Thromboelastography was used intra-operatively to diagnose residual heparinisation, which was demonstrated by a prolonged reaction (R) time of 16.0 min in the plain cup, compared with 9.2 min in the heparinase cup. Subsequently, thromboelastography was also used to monitor haemostatic therapy, which consisted of protamine 2 mg.kg(-1) and 500 IU cryoprecipitate. Thromboelastography was used intra-operatively to allow rapid testing of coagulation status and guide therapy, thereby minimising use of blood products and reducing complications.

Newer anticoagulants in cardiovascular disease: a systematic review of the literature.

Vitamin K antagonists (VKAs) such as warfarin have traditionally been the major therapeutic option for anticoagulation in clinical practice. VKAs are effective and extensively recommended for the prevention of venous and arterial thromboembolism in cardiovascular disease. Despite its effectiveness, warfarin is limited by factors such as a narrow therapeutic index, drug-drug interactions, food interactions, slow onset and offset of action, hemorrhage, and routine anticoagulation monitoring to maintain therapeutic international normalized ratio. During the last 2 decades, the approval of anticoagulants, such as low-molecular-weight heparins, indirect factor Xa inhibitors (eg, fondaparinux), and direct thrombin inhibitors (eg, argatroban, lepirudin, and desirudin), have expanded the number of available antithrombotic compounds with additional targets within the anticoagulation pathway. Although these medications offer several potential therapeutic advantages, they all require parenteral or subcutaneous administration and are substantially more expensive than VKAs. Thus, VKAs, despite several limitations, have remained the major option for most patients requiring chronic anticoagulation. These limitations have prompted interest in the development of newer oral anticoagulants. Novel anticoagulants targeting inhibition of factor Xa and thrombin (factor IIa) have now been incorporated into clinical practice based on the results of large randomized clinical trials, with the recent U.S. Food and Drug Administration approval of dabigatran for stroke prevention in atrial fibrillation and rivaroxaban for deep vein thrombosis and stroke prevention in atrial fibrillation, with multiple other agents in various stages of development for these and other indications. This review discusses the pharmacological properties, clinical results, and therapeutic applications of novel and new anticoagulants, thereby providing an outline for the future of anticoagulation in cardiovascular disease.

Diffusion-weighted MRI determined cerebral embolic infarction following transcatheter aortic valve implantation: assessment of predictive risk factors and the relationship to subsequent health status.

BACKGROUND: 'Silent' cerebral infarction and stroke are complications of transcatheter aortic valve implantation (TAVI). OBJECTIVE: To assess the occurrence of cerebral infarction, identify predictive risk factors and examine the impact on patient health-related quality of life (HRQoL). METHODS: Cerebral diffusion weighted MRI of 31 patients with aortic stenosis undergoing CoreValve TAVI was carried out. HRQoL was assessed at baseline and at 30 days by SF-12v2 and EQ5D questionnaires. RESULTS: New cerebral infarcts occurred in 24/31 patients (77%) and stroke in 2 (6%). Stroke was associated with a greater number and volume of cerebral infarcts. Age (r=0.37, p=0.042), severity of atheroma (arch and descending aorta; r=0.91, p<0.001, r=0.69, p=0.001, respectively) and catheterisation time (r=0.45, p=0.02) were predictors of the number of new cerebral infarcts. HRQoL improved overall: SF-12v2 physical component summary increased significantly (32.4±6.2 vs 36.5±7.2; p=0.03) with no significant change in mental component summary (43.5±11.7 vs. 43.1±14.3; p=0.85). The EQ5D score and Visual Analogue Scale showed no significant change (0.56±0.26 vs. 0.59±0.31; p=0.70, and 54.2±19 vs. 58.2±24; p=0.43). CONCLUSION: Multiple small cerebral infarcts occurred in 77% of patients with TAVI. The majority of infarcts were 'silent' with clinical stroke being associated with a both higher infarct number and volume. Increased age and the severity of aortic arch atheroma were independent risk factors for the development of new cerebral infarcts. Overall HRQoL improved and there was no association between the number of new cerebral infarcts and altered health status.

[Treating mitral regurgitation: a surgical and interventional update]. / Therapie der Mitralklappeninsuffizienz: Chirurgische und interventionelle Neuerungen.

Surgical mitral valve repair has constantly evolved to become the standard of care for severe mitral regurgitation (MR) with superior acute and long-term results compared to valve replacement. Minimally-invasive surgical techniques have been successful in reducing operative trauma while yielding equivalent or even superior results compared to the conventional sternotomy approach. However, due to elevated operative risk a growing proportion of patients are not referred for surgery, especially elderly patients with reduced ventricular function and functional MR who often present with relevant comorbidities. It is for these patients that transcatheter-based therapies may represent an attractive option. While most interventional techniques are still in experimental or early clinical stages of development, relevant clinical experience has been gained with the MitraClip® device. For successful implementation of a patient-centered mitral valve program, integration of surgical and interventional treatment modalities within a heart center is of paramount importance. This is best accomplished by an interdisciplinary dedicated heart team consisting of cardiologists and cardiac surgeons.

An Atypical Mitral Valve Prolapse in a Patient With Behcet's Disease

We report the case of a 42-year-old male who was admitted to the hospital with progressive dyspnea. Cardiomegaly and diffuse pulmonary edema were visible on chest X-ray and multiple oral and genital ulcers on physical examination. On admission, echocardiography revealed mitral valve prolapse (MVP) predominantly involving a basal portion of the posterior leaflet, with severe mitral regurgitation. A successful mitral valve replacement with St. Jude #29 was performed, after pre-treatment with prednisolone for 2 weeks. Fifteen months following the operation, the patient expired from severe pulmonary edema and secondary pneumonia. This case demonstrates, for the first time in the literature, an unusual feature of mitral prolapse in the basal portion with severe mitral regurgitation in a patient with Behcet's disease. As suggested by this case, we should consider an atypical type of MVP as a possible inflammatory involvement of the heart in patients with Behcet's disease.

Mitral valve aneurysm associated with aortic valve regurgitation.

Mitral valve aneurysm (MVA) is uncommon and occurs most commonly in association with infective endocarditis involving the aortic valve. A 66-year-old man with anterior MVA is presented. Two-dimensional transthoracic echocardiography and transesophageal echocardiography revealed a saccular structure in the anterior mitral leaflet that bulged into the left atrium throughout the cardiac cycle, a localized aneurysmal lesion of the aortic valve, and severe mitral and aortic regurgitation. There were neither vegetations nor atrial thrombi and his medical record was not suggestive of any episode of infective endocarditis. The mitral and aortic valves were replaced with mechanical protheses. Pathologic examination of the excised valves showed inflammation and cultures were negative. The postoperative course was uneventful, and the patient was discharged on the fifth postoperative day. In this case, MVA is likely to result from previous infective endocarditis of the aortic valve leading to aneurysm formation and severe aortic regurgitation.