Humans ; Apical Hypertrophic Cardiomyopathy ; Heart Aneurysm/complications* ; Cardiomyopathy, Hypertrophic/complications* ; Ventricular Outflow Obstruction/etiology*

Humans ; Apical Hypertrophic Cardiomyopathy ; Heart Aneurysm/complications* ; Cardiomyopathy, Hypertrophic/complications* ; Ventricular Outflow Obstruction/etiology*

Objective: To examine the clinical efficacy of myectomy guided by personalized three-dimensional reconstruction and printing for patients with obstructive hypertrophic cardiomyopathy. Methods: The clinical data of 28 patients with obstructive hypertrophic cardiomyopathy, who underwent septal myectomy guided by personalized three-dimensional reconstruction and printing in the Department of Cardiaovascular Surgery, Guangdong Provincial People's Hospital from May 2020 to December 2021, were retrospectively analyzed. There were 14 males and 14 females, aging (51.1±14.0) years (range: 18 to 72 years). Enhanced cardiac computed tomography images were imported into Mimics software for preoperative three-dimensional reconstruction. The direction of the short axial plane of each segment was marked perpendicularly to the interventricular septum on the long axial plane of the digital cardiac model, then the thickness was measured on each short axial plane. A figurative digital model was used to determine the extent of resection and to visualize mitral valve and papillary muscle abnormalities. Correlation between the length, width, thickness, and volume of the predicted resected myocardium and those of the surgically resected myocardium was assessed by Pearson correlation analysis or Spearman correlation analysis. The accuracy of detecting mitral valve and papillary muscle abnormalities of transthoracic echocardiography and three-dimensional reconstruction was also compared. Results: There was no death or serious complications like permanent pacemaker implantation, re-sternotomy for bleeding, low cardiac output syndrome, stroke, or multiple organ dysfunction syndromes in the whole group. Namely, the obstruction of the left ventricular outflow tract was effectively relieved. The systolic anterior motion of the anterior mitral valve leaflet was absent in all patients after myectomy. The length, width, and thickness of the predicted resected myocardium by three-dimensional reconstruction were significantly positively correlated with the length (R=0.65, 95%CI: 0.37 to 0.82, P<0.01), width (R=0.39, 95%CI: 0.02 to 0.67, P<0.01), and thickness (R=0.82, 95%CI: 0.65 to 0.92, P<0.01) of the surgically resected myocardium, while the relation of the volume of the predicted resected myocardium and the volume of the surgically resected myocardium was a strong positive correlation (R=0.88, 95%CI: 0.76 to 0.94, P<0.01). Importantly, the interventricular septal myocardial thickness measured by preoperative transthoracic echocardiography showed a moderate positive correlation with the volume of surgically resected myocardium (R=0.52, 95%CI: 0.19 to 0.75, P<0.01). During a follow-up of (14.4±6.8) months (range: 3 to 22 months), no death occurred, and 1 patient was readmitted for endocardial radiofrequency ablation due to atrial fibrillation. Conclusion: Personalized three-dimensional reconstruction and printing can not only visualize the intracardiac structure but also guide septal myectomy by predicting the thickness, volume, and extent of resected myocardium to achieve ideal resection.
Female ; Humans ; Male ; Cardiomyopathy, Hypertrophic/diagnosis* ; Imaging, Three-Dimensional ; Printing, Three-Dimensional ; Retrospective Studies ; Treatment Outcome ; Ventricular Septum ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged

After more than 60 years of development, with the deepening of the pathophysiological understanding of obstructive hypertrophic cardiomyopathy, the extent and resection thickness of myectomy have increased significantly. Myectomy combined with the correction of anomalies of the mitral valve apparatus has become the standard treatment of obstructive hypertrophic cardiomyopathy. Only a few centers worldwide can routinely perform it due to the difficulty. Because of the advances of new drugs and interventional therapy, the development of surgical treatment faces many challenges. At the same time, generations of cardiovascular surgeons are constantly trying to promote septal myectomy, including developing devices and the surgical field, as well as improving surgical planning by advanced technology. At present, the superior long-term efficacy of septal myectomy has been confirmed. It is necessary to work together to promote the treatment of hypertrophic obstructive cardiomyopathy, so as to guard people's health.
Humans ; Cardiomyopathy, Hypertrophic/surgery* ; Heart Septum/surgery* ; Mitral Valve/surgery* ; Mitral Valve Insufficiency/surgery* ; Treatment Outcome

Septal reduction therapies, which include septal myectomy and alcohol septal ablation and so on, are the current treatment strategies for patients with obstructive hypertrophic cardiomyopathy and drug-refractory symptoms. With the deepening of theoretical understanding and the rapid development of interventional therapies, some researchers have tried to perform transcatheter mitral valve edge-to-edge repair to treat high-risk patients with hypertrophic cardiomyopathy, including obstructive and non-obstructive. The reported results are relatively satisfactory, but many urgent problems need to be solved, such as the lack of data on animal experiments and large cohort studies, and the unknown medium- and long-term outcomes. However, transcatheter mitral valve edge-to-edge repair brings new ideas for the diagnosis and treatment of patients with hypertrophic cardiomyopathy. On one hand, it can be used as a monotherapy, on the other hand, it can be combined with novel molecular targeted drug therapy or emerging minimally invasive surgical procedures targeting hypertrophic ventricular septum, which deserves our further attention and exploratory research.
Humans ; Treatment Outcome ; Cardiomyopathy, Hypertrophic/surgery* ; Mitral Valve/surgery* ; Ventricular Septum/surgery* ; Hypertrophy

Objectives: To examine the short-term and mid-term effects of surgical treatment of obstructive hypertrophic cardiomyopathy (HCM) in one center. Methods: The perioperative data and short-term follow-up outcomes of 421 patients with obstructive HCM who received surgical treatment at Department of Cardiac Surgery, Zhongshan Hospital, Fudan University from January 2017 to December 2021 were analyzed retrospectively. There were 207 males and 214 females, aged (56.5±11.7) years (range: 19 to 78 years). Preoperative New York Heart Association (NYHA) classification included 45 cases of class Ⅱ, 328 cases in class Ⅲ, and 48 cases in class Ⅳ. Fifty-eight patients were diagnosed with latent obstructive HCM and 257 patients had moderate or more mitral regurgitation with 56 patients suffering from intrinsic mitral valve diseases. All procedures were completed by a multidisciplinary team, including professional echocardiologists involving in preoperative planning for proper mitral valve management strategies and intraoperative monitoring. A total of 338 patients underwent septal myectomy alone, and 59 patients underwent mitral valve surgery along with myectomy. A single transaortic approach was used in 355 patients, and a right atrial-atrial septal/atrial sulcus approach was used in 51 other patients. Long-handled minimally invasive surgical instruments were used for the procedures. Student t test, Wilcoxon rank sum test, χ² test or Fisher exact test were used to compare the data before and after surgery. Results: The aortic cross-clamping time of septal myectomy alone was (34.3±8.5) minutes (range: 21 to 94 minutes). Eighteen patients had intraoperative adverse events and underwent immediate reoperation, including residual obstruction (10 patients), left ventricular free wall rupture (4 patients), ventricular septal perforation (3 patients), and aortic valve perforation (1 patient). Four patients died during hospitalization, and 11 patients developed complete atrioventricular block requiring permanent pacemaker implantation. After discharge, 384 (92.1%) patients received a follow-up visit with a median duration of 9 months. All follow-up patients survived with significantly improved NYHA classifications: 216 patients in class Ⅰ and 168 patients in class Ⅱ (χ²=662.73, P<0.01 as compared to baseline). At 6 months after surgery, follow-up echocardiography showed that the thickness of the ventricular septum ((13.6±2.5) mm vs. (18.2±3.0) mm, t=23.51, P<0.01) and the peak left ventricular outflow tract gradient ((12.0±6.3) mmHg vs. (93.4±19.8) mmHg, 1 mmHg=0.133 kPa, t=78.29, P<0.01) were both significantly lower than baseline values. Conclusion: The construction of the surgical team (including echocardiography experts), proper mitral valve management strategies, identification and management of sub-mitral-valve abnormalities, and application of long-handled minimally invasive surgical instruments are important for the successful implementation of septal myectomy with satisfactory short-and medium-term outcomes.
Male ; Female ; Humans ; Retrospective Studies ; Atrial Fibrillation ; Treatment Outcome ; Cardiomyopathy, Hypertrophic/surgery* ; Mitral Valve Insufficiency/surgery* ; Ventricular Septum

Objective: To examine the short-term curative effect with minimally invasive right infra-axillary thoracotomy for transaortic modified Morrow procedure. Methods: The clinical data of 60 patients who underwent video-assisted thoracoscopic transaortic modified Morrow procedure from August 2021 to August 2022 at Department of Cardiovascular Surgery, Zhejiang Provincial People's Hospital were retrospectively analyzed. There were 31 males and 29 females, with the age (M (IQR)) of 54.0(22.3) years (range: 15 to 71 years). The echocardiography confirmed the diagnosis of moderate mitral regurgitation in 30 patients, and severe mitral regurgitation in 13 patients. Systolic anterior motion (SAM) was present preoperatively in 54 patients. All 60 patients underwent transaortic modified Morrow procedure through a right infra-axillary thoracotomy using femorofemoral cardiopulmonary bypass. Surgical procedures mainly included transverse aortic incision, exposure of left ventricular outflow tract (LVOT), septal myectomy, and correction of the abnormal mitral valve and subvalvular structures. Results: All 60 patients underwent the programmatic procedures successfully without conversion to full sternotomy. The cardiopulmonary bypass time was (142.0±32.1) minutes (range: 89 to 240 minutes), while the cross-clamp time was (95.0±23.5) minutes (range: 50 to 162 minutes). The patients had a postoperative peak LVOT gradient of 7.0 (5.0) mmHg (range: 0 to 38 mmHg) (1 mmHg=0.133 kPa). A total of 57 patients were extubated on the operating table. The drainage volume in the first 24 h was (175.9±57.0) ml (range: 60 to 327 ml). The length of intensive care unit stay was 21.0 (5.8)h (range: 8 to 120 h) and postoperative hospital stay was 8 (5) days (range: 5 to 19 days). The postoperative septal thickness was 11 (2) mm (range: 8 to 14 mm). All patients had no iatrogenic ventricular septal perforation or postoperative residual SAM. The patients were followed up for 4 (9) months (range: 1 to 15 months), and none of them needed cardiac surgery again due to valve dysfunction or increased peak LVOT gradient during follow-up. Conclusion: Using a video-assisted thoracoscopic transaortic modified Morrow procedure through a right infra-axillary minithoracotomy can provide good visualization of the LVOT and hypertrophic ventricular septum, ensure optimal exposure of the mitral valve in the presence of complex mitral subvalvular structures, so that allows satisfactory short-term surgical results.
Male ; Female ; Humans ; Mitral Valve Insufficiency/surgery* ; Thoracotomy ; Retrospective Studies ; Cardiomyopathy, Hypertrophic/surgery* ; Ventricular Septum/surgery* ; Treatment Outcome ; Minimally Invasive Surgical Procedures/methods*

Objective: To examine the early effect of thoracoscopic trans-mitral myectomy for hypertrophic cardiomyopathy patients with left midventricular obstruction. Methods: From April 2020 to July 2021, 10 hypertrophic cardiomyopathy patients with left midventricular obstruction underwent thoracoscopic trans-mitral myectomy at Guangdong Provincial People's Hospital. The whole group of patients consisted of 7 males and 3 females aged (52.0±16.4) years (range: 18 to 68 years). The EuroSCORE Ⅱ predicted mortality rate was 1.78% (1.20%) (M(IQR)) (range: 0.96% to 4.86%). The clinical data were collected and analyzed retrospectively to evaluate the clinical efficacy by comparing preoperative and postoperative echocardiographic parameters using paired t-test, paired Wilcoxon test or Fisher exact test, including left ventricular outflow tract peak pressure gradient, maximum interventricular septum thickness, systolic anterior motion of the anterior mitral leaflet and so on. The safety was determined by summarizing the incidence of perioperative and follow-up complications. Results: All the procedures successed with no conversion to median sternotomy, septal defect, ventricular rupture. There was no in-hospital 30-day death, neither serious complications like permanent pacemaker implantation, re-sternotomy for bleeding, low cardiac output syndrome, stroke, or multiple organ dysfunction syndrome. The left ventricular outflow tract obstruction was effectively relieved in all patients expect a patient developed residual obstruction. Compared with that of pre-operation, the thickness of the interventricular septum was significantly reduced from (22.1±4.0) mm to (10.3±1.7) mm (t=10.693, P<0.01), while the left ventricular outflow tract peak pressure gradient was significantly reduced from (81.7±21.1) mmHg to 12.3 (11.5) mmHg (Z=-2.805, P<0.01) (1 mmHg=0.133 kPa). Conclusion: Thoracoscopic trans-mitral myectomy is an effective and safe procedure for hypertrophic cardiomyopathy patients with left midventricular obstruction.
Male ; Female ; Humans ; Retrospective Studies ; Echocardiography ; Treatment Outcome ; Cardiomyopathy, Hypertrophic/complications* ; Ventricular Septum

OBJECTIVE: To explore the clinical phenotype and genetic features of a child with dilated cardiomyopathy (DCM). METHODS: Clinical data of the child who had presented at the Zhengzhou Children's Hospital on April 28, 2020 was collected. Trio-whole exome sequencing (trio-WES) was carried out for the child and her parents, and candidate variants were validated by Sanger sequencing. "FHL2" was taken as the key word to retrieve related literature from January 1, 1997 to October 31, 2021 in the PubMed database and was also searched in the ClinVar database as a supplement to analyze the correlation between genetic variants and clinical features. RESULTS: The patient was a 5-month-old female infant presented with left ventricular enlargement and reduced systolic function. A heterozygous missense variant c.391C>T (p.Arg131Cys) in FHL2 gene was identified through trio-WES. The same variant was not detected in either of her parents. A total of 10 patients with FHL2 gene variants have been reported in the literature, 6 of them had presented with DCM, 2 with hypertrophic cardiomyopathy (HCM), and 2 with sudden unexplained death (SUD). Phenotypic analysis revealed that patients with variants in the LIM 3 domain presented hypertrophic cardiomyopathy and those with variants of the LIM 0~2 and LIM 4 domains had mainly presented DCM. The c.391C>T (p.Arg131Cys) has been identified in a child with DCM, though it has not been validated among the patient's family members. Based on the guidelines of the American College of Medical Genetics and Genomics, the c.391C>T(p.Arg131Cys) variant was re-classified as likely pathogenic (PS2+PM2_Supporting+PP3+PP5). CONCLUSION The heterozygous missense variant of c.391C>T (p.Arg131Cys) in the FHL2 gene probably predisposed to the DCM in this child, which has highlighted the importance of WES in the clinical diagnosis and genetic counseling.
Female ; Humans ; Cardiomyopathy, Dilated/genetics* ; Cardiomyopathy, Hypertrophic ; Genetic Counseling ; Genomics ; Heterozygote ; Muscle Proteins/genetics* ; Transcription Factors ; LIM-Homeodomain Proteins/genetics*

OBJECTIVE: To explore the clinical and genetic characteristics of eight children with Primary hypertrophic cardiomyopathy (HCM). METHODS: Eight children with HCM admitted to the Department of Cardiology of Henan Children's Hospital from January 2018 to December 2021 were selected as the study subjects. Clinical data of the children were collected. Whole exome sequencing was carried out on two children, and trio whole exome sequencing was carried out on the remainder 6 children. Sanger sequencing was used to verify the candidate variants in the children and their parents, and the pathogenicity of the variants was evaluated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: The patients had included 5 males and 3 females, with their ages ranging from 5 to 13 years old. The average age of diagnosis was (7.87 ± 4.8) years old, and the cardiac phenotype showed non-obstructive HCM in all of the patients. WES has identified variants of the MYH7 gene in 4 children, including c.2155C>T (p.Arg719Trp), c.1208G>A (p.Arg403Gln), c.1358G>A (p.Arg453His), and c.1498G>A (p.Glu500Lys). Based on the guidelines from the ACMG, the first 3 variants were classified as pathogenic, while c.1498G>A (p.Glu500Lys) was classified as likely pathogenic (PM1+PM2_Supporting+PM6+PP3), which was also unreported previously. The remaining four children had all harbored maternal variants, including MYL2: c.173G>A (p.Arg58Gln; classified as pathogenic), TPM1: c.574G>A (p.Glu192Lys) and ACTC1: c.301G>A (p.Glu101Lys)(both were classified as likely pathogenic), and MYBPC3: c.146T>G (p.Ile49Ser; classified as variant of uncertain significance). Seven children were treated with 0.5 ~ 3 mg/(kg·d) propranolol, and their symptoms had improved significantly. They were followed up until September 30, 2022 without further cardiac event. CONCLUSION Genetic testing can clarify the molecular basis for unexplained cardiomyopathy and provide a basis for clinical diagnosis and genetic counseling. Discovery of the c.1498G>A (p.Glu500Lys) variant has also expanded the spectrum of MYH7 gene mutations underlying HCM.
Female ; Male ; Humans ; Child ; Child, Preschool ; Adolescent ; Cytoskeletal Proteins ; Family ; Genetic Counseling ; Genetic Testing ; Cardiomyopathy, Hypertrophic/genetics*