A case of hypertrophic cardiomyopathy with previous aortic valve replacement.

We describe a 45-year-old patient who was diagnosed with hypertrophic obstructive cardiomyopathy (HOCM) after the aortic valve replacement surgery. Enlarged left atria, thickened ventricular septum, left ventricular outflow tract stenosis, moderate mitral regurgitation and mild tricuspid regurgitation in the echocardiography were found. We offered the patient the new minimally invasive treatment modality: percutaneous intra-myocardial septal radiofrequency ablation (PIMSRA). We demonstrate the safety and efficacy with pictures. One month after surgery, the patient recovered well with improved symptoms of chest tightness, and no LVOT obstruction or arrhythmia.

The TTN p. Tyr4418Ter mutation causes cardiomyopathy in human and mice.

OBJECTIVE: To generate a mouse model carrying TTNtv Y4370* simulating the newly discovered human heterozygous nonsense TTNtv c.13254T>G (p.Tyr4418Ter) to supplement and improve the functional evidence of pathogenic mutation TTNtv c.13254T>G on the pathogenic type of dilated cardiomyopathy. METHODS: We generated 4 mice carrying TTNtv p. Y4370* through CRISPR/Cas-mediated genome engineering. Monthly serological detection, bimonthly echocardiography, and histology evaluation were carried out to observe and compare alterations of cardiac structure and function between 4 TTN+/- mice and 4 wild-type (WT) mice. RESULTS: For the two-month-old TTN+/- mice, serum glutamic-oxalacetic transaminase (AST), lactic dehydrogenase (LDH), and creatine kinase (CK) were significantly increased, the diastolic Left Ventricular Systolic Anterior Wall (LVAW), and the LV mass markedly rose, with the left ventricular volume displaying an increasing trend and Ejection Fraction (EF) and Fractional Shortening (FS) showing a decreasing trend. Besides, the histological evaluation showed that cardiac fibrosis level and positive rate of cardiac mast cell of TTN+/- mice were obviously increased compared with WT mice. CONCLUSIONS: TTNtv Y4370* could lead to cardiac structure and function alterations in mice, supplementing the evidence of TTNtv c.13254T>G pathogenicity in human.

A case report of adolescent myofibrillar myopathy due to a de novo R406W pathogenic variant in desmin with symptoms of "hypertrophic cardiomyopathy".

Objective: Myofibrillar myopathies (MFM) are a group of sporadic and inherited progressive skeletal muscle disorders that can lead to physical disability and premature death. To date, pathogenic variants in different genes are associated with MFM. MFM induced by variants in the Desmin (DES) gene is the most common subtype of MFM. Case presentation: A 15-year-old boy with MFM was described, whose symptoms first presented as cardiac symptoms. Enlarged right and left atria, thickened ventricular septal (IVS) and mild mitral (MR) and tricuspid regurgitation (TR) in the echocardiography were found. Atrial fibrillation, intermittent atrioventricular (AV) block, ST-T changes in the dynamic electrocardiogram (ECG) were shown. Mild myopathic changes in the electromyographic exam were detected. Ultrastructural analysis found slight Z-line changes and a few small myolysis lesions, but no abnormal inclusion bodies. Genetic testing detected a heterozygous missense variant (c.1216C > T) of DES, and 2 rare variants: TNNI3K (c.1102C > G) and PRDM16 (c.3074G > A). The patient's parents didn't show skeletal and cardiac muscle disorders. DNA sequencing analysis showed no variant of DES was carried by them. Thus, we detected a case of MFM caused by de novo DES variant c.1216C > T/p.Arg406Trp with predominantly myocardial alterations.

Early and Mid-Term Outcomes of Using the Chimney Technique in Redo Mitral Valve Replacement in Patients with a Small Mitral Annulus.

The outcomes of redo mitral valve replacement (Re-MVR) in a small mitral annulus with the use of the chimney technique are not well documented. The purpose of this study is to present our early experience with this group of patients, illustrating the periop-erative complications and mortality outcomes. From 2019 to 2020, 77 consecutive patients underwent Re-MVR with the use of the chimney technique because of a small mitral annulus. To evaluate heart structural integrity and clinical outcomes, postoperative clinical data and echocardiograms were examined. The mean age was 56.7 ± 15.98 years. All patients underwent mitral valve surgery, of which 62 were mitral valve replacements, 7 mitral valve repairs, and 8 double valve replacements. The preoperative mitral valve mean gradient was 18.07 ± 9.40 mmHg, and the postoperative mitral prosthesis size was 28.51 ± 1.22 mm. The median increment of mitral size enlargement was 4 (0, 6) valve sizes. The mean mitral gradient coming out of the operating room was 10.34 ± 2.12 mmHg, and at the follow-up echocardiogram performed at 3 years after the procedure, it was 10.36 ± 1.70 mmHg. One-year survival was 93.3%, while the 4-year survival rate was 89.3%, with no reoperation. The use of the chimney technique in small mitral valve re-mitral valve replacement results in larger valve sizes. Moreover, the mean gradients over the mitral valve are acceptable both intraoperatively and over time.

The relationship between uric acid and in-hospital mortality in patients with type A acute aortic dissection: A retrospective single-center study.

OBJECTIVE: To measure the preoperative uric acid (UA) concentration in patients with type A aortic dissection (TAAD), and to assess its value in predicting in-hospital mortality. METHODS: A total of 747 patients with TAAD between January 2016 and December 2022 were enrolled. The patients were divided into a survivor group and a non-survivor group. The clinical data of the two groups were compared. Univariate and multiple logistic regression analyses were performed to determine risk factors related to in-hospital mortality. RESULTS: Compared with survivors, non-survivors had significantly higher serum uric acid levels (486.84 ± 127.59 vs 419.49 ± 141.02, P = 0.040). The incidence of in-hospital death increased along with higher UA levels (3.8% vs 0.7%, P = 0.007). Serum UA ≥ 373.5 µmol/L had 89.5% sensitivity and 41.3% specificity for predicting in-hospital death (area under the curve = 0.659, 95% CI: 0.554-0.765, P < 0.05). In the multivariable logistic model, Serum UA ≥ 373.5 µmol/L was independently associated with in-hospital mortality (OR = 1.022, 95% CI: 1.000-1.044, P = 0.048). CONCLUSION: Serum UA resulted as an independent predictor of adverse prognosis in patients with TAAD, and thus could be used as an effective tool for the risk-stratification of patients with TAAD.

Early outcomes of the "Chimney" commando procedure in the small aortic and mitral annuli.

Background: Commando procedure, the surgical replacement of the mitral and aortic valves combined with reconstruction of the fibrosa fibrous body, is a technical challenge in patients with small aortic and mitral annuli. In this study, we evaluated the safety and early outcomes of the "Chimney" modality of the Commando procedure, in patients with small aortic and mitral annuli, after prior valve surgery, using a self-assembled valved conduit. Methods: From April 2021 to April 2022, 30 consecutive cases of the "Chimney" Commando procedure, with a self-assembled valved conduit and other combined cardiac procedures, were fully performed for re-operative patients with small aortic roots. Data were obtained through a medical record review, at the Asian Heart Hospital in Wuhan, China. Results: The patient's mean age was 52.7 ± 13.53 years, with 93.3% females. All patients had a previous heart valve surgery, 90% of which had double valve replacement (DVR). Hospital death occurred in 3.3% (n = 1) of the patients, due to malignant arrhythmias and multiorgan failure. Postoperative echocardiogram exams showed that the sizes of the aortic and mitral valve prostheses were 24.23 ± 1.60 mm and 28.33 ± 1.21 mm, respectively. All patients had intact intervalvular fibrosa (IVF) repair and no patient had any aberration in the left heart chamber communication. With the exception of one postoperative sick sinus syndrome and one re-sternotomy for bleeding, there were no significant postoperative complications, such as mortality, renal failure requiring ongoing dialysis, or mediastinitis. Echocardiography exams in the sixth postoperative month showed that the mean gradients of the aortic and mitral valves were 16.26 ± 6.44 mmHg and 11.24 ± 4.90 mmHg, respectively. Conclusions: In comparison with the standard Commando operation, the early outcomes and safety of the "Chimney" Commando procedure proved to be a feasible therapeutic option for patients with small aortic and mitral annuli, after prior valve operations. This approach enables the enlargement of the aortic and mitral annuli and the implantation of the necessary valve prosthesis.

Right atrial myxoma after Amplatzer atrial septal defect closure device deployment.

Right atrial (RA) myxoma is common; however, RA myxoma after the percutaneous atrial septal defect closure is very rare. To the best of our knowledge, this might be the first reported case of RA myxoma after Amplatzer closure of an atrial septal defect, leading to a pulmonary artery embolism. We removed all the RA mass, occluder and pulmonary embolus and reconstructed the atrial septum successfully. As a result of surgery, there were no other complications as following up.

Evaluation of right ventricular function in patients with pulmonary arterial hypertension by different right ventricular-pulmonary artery coupling methods.

To compare the accuracy of end-systolic elasticity (Ees)/arterial elasticity (Ea) ratio measured by single beat estimation, pressure-volume loop and cardiac magnetic resonance (CMR) combined volume method in patients with pulmonary artery hypertension, and to find a feasible and reliable method to quantitatively evaluate the function of right ventricle in patients with pulmonary artery hypertension. Forty-nine pulmonary artery hypertension patients enrolled between May 2017 and May 2018 in our hospital were retrospectively analyzed. Firstly, measure Ees/Ea ratio by single beat estimation, pressure-volume loop and CMR combined volume method, then, compare Ees/Ea ratio with New York Heart Association (NYHA) classification and NT-proBNP value respectively to evaluate the accuracy of the 3 methods. Ees/Ea ratio measured by single beat estimation is 2.07 ±â€…1.01, correlation analysis is not statistically significant when compare with NYHA classification and NT-proBNP value (P > .05). Ees/Ea ratio measured by pressure-volume loop is 2.64 ±â€…1.48, correlation analysis is not statistically significant when compare with NYHA classification and NT-proBNP value (P > .05). Ees/Ea ratio measured by CMR combined volume method is 0.72 ±â€…0.43, correlation analysis is statistically significant when compare with NYHA classification and NT-proBNP with negative correlation (P < .05). Ees/Ea ratio decrease according to the increase of NT-proBNP value and the NYHA classification. There is linear regression equation between Ees/Ea ratio measured by CMR combined volume method and log (NT-proBNP) value: Y = -0.257X + 1.45, and the linear regression equation is statistically significant (P = .001). Ees/Ea ratio measured by CMR combined volume method is a feasible and reliable method to quantitatively evaluate the function of right ventricule in patients with pulmonary artery hypertension, which might be further verified in a larger patient population.

A rare pulmonary-to-systemic venous connection associated with the partially anomalous pulmonary venous connection.

BACKGROUND: We report an extremely rare case of pulmonary-to-systemic venous connection associated with the partially anomalous pulmonary venous connection. Our case highlights that computed tomography angiography has a significant diagnostic and differential value for this rare anomaly. METHODS AND RESULTS: A 32-year-old male presented with chest discomfort for 2 weeks. The electrocardiogram and laboratory were unremarkable abnormalities. Transthoracic echocardiography suggested an enlargement of the right atrium and right ventricle. Cardiac computed tomography angiography images showed partial anomalous drainage of the right superior pulmonary vein into the superior caval vein, and a large pulmonary-to-systemic venous connection from the right middle pulmonary vein into the superior vena cava resulting in left atrial to systemic venous shunt. The patient underwent a successful thoracoscopic correction of partially anomalous pulmonary venous connection. Post-procedural course was uneventful, and he was discharged after 7 days. DISCUSSION: Pulmonary-to-systemic venous connection may also be called a levoatriocardinal vein. The embryological origin of this venous connection is an abnormal persistency of the splanchnic plexus connecting the pulmonary venous plexus and the cardinal system. The diagnosis of these rare types of the pulmonary to systemic communications has important clinical implications. We report an extremely rare case with pulmonary-to-systemic venous connection from the right middle pulmonary vein into the superior caval vein, although the connection might have been considered a levoatriocardinal vein, there is no separate formation of the right middle pulmonary vein at the time of existence of the splanchnic plexus, so it is inappropriate to explain the collateral channel encountered in our patient on the basis of an embryological remnant, a more appropriate term for these anomalies would be a "pulmonary-to-systemic collateral vein". Because the venous collateral pathway may be a source of the persistent left-to-right shunt and cause clinical manifestations of chronic right heart volume overload later in life. Therefore, we have performed successful thoracoscopic correction of partial anomalous pulmonary venous drainage. The Post-procedural course was uneventful. CONCLUSION: The pulmonary-to-systemic venous connection associated with the partially anomalous pulmonary venous connection is a rare congenital malformation. Computed tomography angiography as a noninvasive imaging method plays an important diagnostic and differential value for this entity.

Giant primary cardiac alveolar rhabdomyosarcoma of the right atrium.

Primary cardiac alveolar rhabdomyosarcoma (ARMS) is an extremely rare malignant tumor with dismal prognosis. We herein report a case of right atrial ARMS in a 63-year-old female with intermittent dizziness. Complete surgical resection of the mass was performed and the postoperative histopathologic examination confirmed ARMS. The patient received adjuvant therapy after surgery and was doing well at 1-year follow-up.

Unusual case of a right atrial inflammatory myofibroblastic tumor presenting with an episodic cyanosis in an infant.

Cardiac inflammatory myofibroblastic tumor (IMT) is a rare benign tumor that occurs mainly in infants and children. We report a case of right atrial IMT in a 1-month-old girl with episodic cyanosis. Both echocardiography and cardiac computed tomography revealed a right atrial mass. The patient underwent a complete surgical resection of the mass and the postoperative histological examination confirmed the diagnosis of cardiac IMT. The patient recovered well after the operation and further follow-up evaluation was uneventful.

A rare variant of the great cardiac vein draining directly into the left atrium.

BACKGROUND: Abnormalities in drainage of the GCV are interesting due to its rarity and likely to be underreported, with most cases found incidentally in cardiac imaging and autopsy studies.We report a case with anomalous drainage of the GCV into the LA, and the rest of the cardiac veins are draining normally. METHODS AND RESULTS: A 60-year-old male presented with heart palpitations for half a month. Electrocardiogram and laboratory tests showed no abnormalities. He was recommended for coronary computed tomography angiography (CCTA). The maximum intensity projection image of CCTA showed that the great cardiac vein draining into the left atrium, the rest of the cardiac veins and coronary vein sinus were draining into the right atrium normally. Volume-rendered image of coronary CT angiography showed that the GCV originated in the upper third of the anterior interventricular sulcus and drained directly into the left atrium. DISCUSSION: Abnormalities in drainage of the GCV are interesting due to its rarity and likely to be underreported. Only a few cases have been reported that the aberrant drainage of the GCV, with draining into the anterior cardiac veins, the left internal thoracic vein, the superior vena cava, the right atrium, and the LA. The abnormality of GCV is an often neglected aspect of CCTA imaging, it can be better displayed in the venous phase of coronary catheter angiography. The awareness of which may be critically important for procedures that require venous access such as coronary surgery requiring retrograde cardioplegia, surgical ablation of aberrant conducting pathways, pacemaker insertion, and valves surgery. CONCLUSION: CCTA has important diagnostic imaging value in abnormalities of the origin, course and termination of the great cardiac veins, the awareness of which may be critically important for procedures that require venous access.