Transapical beating-heart septal myectomy for Fabry cardiomyopathy with left ventricular outflow tract obstruction: a retrospective case series

Introduction

Fabry disease (FD) is an X-linked genetic disorder caused by mutations in the alpha-galactosidase A (GLA) gene, resulting in deficient GLA enzyme activity. This enzymatic deficiency leads to lysosomal accumulation of glycosphingolipid, ultimately affecting multiple organs and systems (1). Cardiac involvement, termed Fabry cardiomyopathy, typically manifests as progressive left ventricular hypertrophy (LVH), myocardial fibrosis, conduction abnormalities, and both systolic and diastolic dysfunction (2). Although uncommon, some patients develop left ventricular outflow tract (LVOT) obstruction, which may cause severe, drug-refractory symptoms and necessitate septal reduction therapy (SRT) to relieve the obstruction. However, existing literature on SRT in Fabry cardiomyopathy is limited and primarily focuses on conventional septal myectomy performed under cardiopulmonary bypass (CPB) (3-5).

In this report, we aimed to evaluate the efficacy of transapical beating-heart septal myectomy (TA-BSM)—a novel, minimally invasive SRT procedure performed without CPB—in patients with Fabry cardiomyopathy and severe LVOT obstruction. To our knowledge, this approach has not previously been reported in this patient population. We present this article in accordance with the PROCESS reporting checklist (available at https://qims.amegroups.com/article/view/10.21037/qims-2025-893/rc).

Case presentation

Patient cohort and inclusion criteria

This case series is a retrospective review of four genetically confirmed patients with Fabry cardiomyopathy and LVOT obstruction who underwent TA-BSM. Between October 2022 and September 2024, a total of 873 consecutive patients with a clinical diagnosis of obstructive hypertrophic cardiomyopathy (HCM) underwent TA-BSM at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. The diagnosis of HCM was based on the 2020 American Heart Association/American College of Cardiology (AHA/ACC) guidelines (6). The inclusion criteria were significant LVH (maximal septal thickness >15 mm), LVOT obstruction (resting or provoked gradient >50 mmHg), and severe symptoms refractory to medication. TA-BSM procedures were performed to alleviate LVOT obstruction and systolic anterior motion (SAM)-mediated mitral regurgitation (MR), thereby improving clinical symptoms.

Among these HCM patients, four individuals (0.46%) were genetically diagnosed with FD prior to surgery and were recruited to this study. Diagnostic indicators for Fabry cardiomyopathy were meticulously assessed through medical history review, electrocardiography (ECG), echocardiography, and cardiac magnetic resonance (CMR) imaging (7).

Cardiac imaging assessments

All patients underwent comprehensive transthoracic echocardiography (TTE) evaluation. MR was graded as follows: 0 (none), 1+ (mild), 2+ (moderate), 3+ (moderate to severe), and 4+ (severe). SAM was graded as 0 (none), 1 (leaflet-septal distance >10 mm), 2 (leaflet-septal distance ≤10 mm but no leaflet-septal contact), 3 (leaflet-septal contact <30% of systolic duration), and 4 (leaflet-septal contact ≥30% of systolic duration). Left ventricular global longitudinal strain (GLS) was quantified using two-dimensional (2D) speckle-tracking analysis on apical views.

CMR was performed using a 3.0 T scanner (MAGNETOM Skyra, Siemens Healthineers, Erlangen, Germany). Native T1 mapping was acquired using a modified Look-Locker inversion recovery (MOLLI) sequence with a 5(3)3 acquisition scheme during breath-hold and ECG gating. Late gadolinium enhancement (LGE) images were obtained 10–15 minutes after intravenous administration of gadobutrol (0.2 mmol/kg, Bayer HealthCare, Berlin, Germany) using a phase-sensitive inversion recovery sequence. The inversion time was individually adjusted to null normal myocardium.

Baseline clinical characteristics

The mean age of the four patients at the time of TA-BSM was 53.5±9.0 years; two were male and two were female. Patients 1 and 2, both male, presented with extracardiac manifestations of FD and had undergone renal transplantation at relatively young age. In addition, Patient 1 had previously undergone hip arthroplasty, whereas Patient 2 had undergone bilateral artificial femoral head replacements. Both patients had a family history of FD inherited from their mothers. Patient 3 and 4, both female, showed no extracardiac involvement. Detailed patient demographics and baseline clinical characteristics are presented in Table 1. All patients received routine oral β-blocker therapy before surgery, and Patient 2 had been on enzyme replacement therapy (ERT) for over 2 years, whereas severe symptoms persisted without significant improvement in all patients. Patient 3 experienced a sudden syncope two weeks before surgery. Genetic testing revealed the following mutations in the GLA gene: c.1196G>A (p.Trp399*) in Patient 2, c.493G>T (p.Asp165Tyr) in Patient 3, c.775–787del (p.Pro259fs) in Patient 4, and c.369+1G>T (an unknown variant) in Patient 1 (Table 1).

CMR imaging showed severe LVH in all four patients. Patients 1 and 2 exhibited decreased native myocardial T1 values, whereas Patients 3 and 4 had elevated T1 values (Table 1). A basal inferolateral pattern of LGE was noted in Patients 3 and 4 (Figure 1). The native T1 values measured in the LGE regions were 1,493 and 1,386 ms in Patients 3 and 4, respectively, significantly higher than the normal range established at our institution (1,240–1,300 ms).

Figure 1 Typical cardiac imaging in the diagnosis of Fabry disease. (A) Echocardiographic imaging from Patient 2: (left) a short-axis image with LVH (yellow line) and hypertrophic PM (yellow circle); (mid) rest peak LVOT gradient >50 mmHg; (right) reduced GLS characterized in the inferolateral region. (B) CMR imaging: (left) a short-axis image with LVH from Patient 2 (yellow line); (mid) T1 color map with reduced T1 signal (purple) from Patient 2; (right) a short-axis LGE image from Patient 3 with the enhancement in the inferolateral region (areas of white, with yellow arrow). CMR, cardiac magnetic resonance; GLS, global longitudinal strain; IVS, interventricular septum; LGE, late gadolinium enhancement; LVH, left ventricular hypertrophy; LVOT, left ventricular outflow tract; PM, papillary muscle; PW, posterior wall.

ECG indicated LVH (Sv1 + Rv5 >3.5 mV) and prolonged QRS duration (>100 ms) in all patients. Patient 1 had a history of paroxysmal atrial fibrillation, whereas Patient 3 presented with first-degree atrioventricular block and premature ventricular contractions. None of the patients demonstrated a shortened P-R interval (Table 1).

Surgical procedures

TA-BSM was performed under general anesthesia without CPB, with the use of the beating-heart myectomy device under intraoperative transesophageal echocardiography (TEE) guidance, as previously described (8). All the TA-BSM procedures were performed by the same senior surgeon (X.W.). The beating-heart myectomy device (Wei-Xin-Tan Corp., Wuhan, China) comprises a resection tube containing a tubular blade, a multifunctional handle, and a catheter connecting the chambers of the device.

With patient positioned supine, a minithoracotomy was performed at the left ventricular apex, typically through the fifth intercostal space along the left midclavicular line. Double circumferential purse-string sutures with Teflon felt pledgets were placed at the apex, followed by an apical puncture and dilation. The device was introduced into the left ventricle via the apical access and advanced into the LVOT. Under TEE navigation, the tubular blade was deployed to excise the target hypertrophied myocardium. The first resection was performed at the basal anterior septum, located 5–10 mm beneath the aortic valve. The resected myocardium tissue, along with the device, was then retrieved from the ventricular chamber. Following the first resection, an isoproterenol provocation test was performed to evaluate the residual LVOT gradient. Additional resections were performed as needed to achieve optimal reduction in LVOT gradient, SAM grade, and MR severity, all under real-time TEE guidance. Resected myocardial tissues were weighed and submitted for histological analysis.

Surgical results and histology analysis

Guided by TEE, all surgeries were successfully performed, resulting in immediate hemodynamic improvements (Figure 2). None of the patients required blood transfusion, and no major complications or adverse events—such as permanent complete heart block, iatrogenic ventricular septal perforation, valvular injury, or cerebrovascular events—were observed. The postoperative course was uneventful, with all patients discharged in stable condition on postoperative day 7.

Figure 2 Intraoperative transesophageal echocardiographic evaluation before (upper) and after (lower) resection from Patient 4, as indicated. The scar created by resection is marked by triangles in the ME LAX or asterisks in the TG SAX. DTG, deep transgastric view; LVOTG, left ventricular outflow tract gradient; ME LAX, midesophageal long-axis view; MR, mitral regurgitation; TG SAX, transgastric basal short-axis view.

The mean weight of the resected myocardium tissues was 8.2±3.9 g (13.6, 7.1, 7.9 and 4.3 g). Intraoperatively, the excised myocardium appeared yellowish and spongy in texture, in contrast to the typical reddish, firm texture of myocardium seen in patients with HCM. Histological examinations showed evidence of intracellular storage with prominent cytoplasmatic vacuolization of myocytes in all patients (Figure 3).

Figure 3 Resected cardiac muscle specimen and hematoxylin-eosin stain from Patient 3 (A,C) and a typical hypertrophic cardiomyopathy patient (B,D). (A) The yellowish spongy samples instead of (B) the usual reddish stony-elastic samples. (C) A typical light microscopy marker of intracellular storage with prominent vacuolization of cardiomyocytes instead of (D) a typical hypertrophy of cardiomyocytes with hyper-stained nucleus (hematoxylin-eosin, original magnification ×400).

Follow-up and echocardiographic evaluation

All patients experienced significant symptomatic and hemodynamic improvement following surgery (Table 2). At a mean follow-up duration of 12±8.8 months (24, 12, 9 and 3 months), all patients’ New York Heart Association (NYHA) functional class improved from preoperative class III/IV to class I/II. Postoperative N-terminal pro-B-type natriuretic peptide levels were markedly reduced.

Mean septal thickness decreased from 26.0±4.1 mm preoperatively to 18.0±3.9 mm. Maximal instantaneous LVOT gradients were significantly reduced, from 111.0±44.3 mmHg preoperatively to 26.5±8.3 mmHg postoperatively, demonstrating effective relief of LVOT obstruction. All patients with preexisting MR (≥3+) and systolic SAM (≥2) exhibited notable improvements, with MR grade reduced to ≤2+ and SAM grade reduced to ≤1. Left ventricular GLS improved slightly from 6.6%±3.0% to 9.5%±2.3% (absolute values) on postoperative assessments (Figure 4). Additionally, left ventricular stroke volume, as a surrogate for myocardial contractility, improved significantly in all patients.

Figure 4 Echocardiographic assessment pre-operation (upper) and 9 months post-operation (lower) from Patient 3. The scar created by operation is marked by triangles in the PLAX. IVS, interventricular septum; LV GLS, left ventricular global longitudinal strain; LVOTG, left ventricular outflow tract gradient; MR, mitral regurgitation; PLAX, parasternal long-axis view; PW, posterior wall.

Ethics

All procedures performed in this study were in accordance with the ethical standards of the institutional and national research committee and with the Helsinki Declaration and its subsequent amendments. This study followed the protocol approved by the Ethics Committee of Tongji Medical College (approval Nos. 2022-S013, 2022-S013-1, 2022-S013-2, 2022-S013-3, 2022-S013-4; also registered at ClinicalTrials.gov, NCT05332691). Written informed consent was obtained from the patients for publication of this study and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Discussion

Cardiac involvement is the leading cause of FD-related mortality in adult patients (9). Fabry cardiomyopathy typically manifests as progressive myocardial hypertrophy and may occasionally result in LVOT obstruction, closely resembling HCM. ERT has been proposed as a potentially curative treatment for cardiac complications of FD, effectively reducing plasma levels of glycosphingolipid (10). Currently, expert consensus recommends early initiation of ERT—ideally before the development of LVH and myocardial fibrosis—to achieve sustained improvement in cardiac structure and function (11,12). However, studies have indicated that the benefits of ERT may be limited in patients who have already developed structural cardiac abnormalities such as LVH or replacement fibrosis (13,14). As such, the limited effect of ERT in alleviating LVOT obstruction underscores the need for SRT in patients with persistent symptoms despite adequate medical treatment.

Previous studies have reported favorable outcomes with conventional surgical septal myectomy or alcohol septal ablation in selected Fabry patients, demonstrating the feasibility and efficacy of SRT in this population. Cecchi et al. (3) and Meghji et al. (4) reported satisfactory results with surgical septal myectomy, confirming its safety and effectiveness in providing both short- and long-term relief of severe, symptomatic obstruction. Zemánek et al. demonstrated that in properly selected patients, alcohol septal ablation was a feasible option and provided symptomatic improvement (15). More recently, Neculae et al. described a successful complex management approach combining alcohol septal ablation with chaperone therapy (16). However, these procedures are typically performed under CPB or involve myocardial infarction induction, each carrying unique procedural risks.

TA-BSM is a novel, minimally invasive SRT technique that enables direct resection of target septal myocardium without the need for CPB. A key advantage of TA-BSM is the use of real-time intraoperative TEE, which allows precise assessment of both hemodynamic and morphological parameters in the beating heart, thereby ensuring adequate and targeted resection. Our center has previously validated the safety and effectiveness of TA-BSM in patients with obstructive HCM (8).

In this case series, we presented the first documented application of TA-BSM in patients with Fabry cardiomyopathy and LVOT obstruction. Among the four genetically confirmed Fabry patients, TA-BSM was successfully performed without perioperative complications. Postoperative follow-up evaluations demonstrated substantial reductions in LVOT gradients, improvements in MR and SAM, as well as enhanced left ventricular function and symptomatic relief. These findings suggest that TA-BSM may be a viable and less invasive alternative to conventional SRT approaches in selected Fabry patients.

All patients presented extremely impaired left ventricular GLS before surgery, particularly in the basal inferolateral segments, corresponding to regions of LGE on CMR. Chang et al. demonstrated that impaired GLS was predictive of major adverse cardiovascular events and may enhance prognostic assessment in patients with severe Fabry-related LVH (17). Therefore, the postoperative improvement in GLS following TA-BSM may indicate a potentially better long-term prognosis. Although some patients showed reduced right ventricular free wall longitudinal strain, its independent prognostic significance remains unclear (18).

Of note, the two male patients in our series exhibited the male classic phenotype with multi-organ involvement, whereas the two heterozygous female patients presented with predominantly cardiac manifestations. This aligns with the known sex-related phenotypic variability of this X-linked disorder. CMR in female patients revealed LGE in the basal inferolateral wall, a characteristic finding of Fabry cardiomyopathy (19), whereas the male patients did not undergo LGE imaging due to concerns about potential renal complications. Notably, the male patients both showed reduced native T1 values, whereas female patients showed increased T1 values in areas corresponding to LGE, suggesting “pseudo-normal” T1 values affected by diffuse fibrosis.

ECG from all patients showed elevated Sokolow-Lyon index and prolonged QRS duration, consistent with typical ECG features of FD. These findings have previously been reported to be independently associated with the presence of low T1 values on CMR (20). Notably, none of the patients exhibited a shortened P-R interval—a feature that has historically been considered a hallmark of FD. However, more recent studies with larger cohorts have shown that short PR-interval has a relatively low prevalence among FD patients and lacks sufficient sensitivity to serve as a reliable diagnostic marker (21,22).

There are several limitations in this case series. First, the sample size was relatively small, which limits the generalizability of the findings. However, this is largely due to the low prevalence of FD and the even rarer occurrence of LVOT obstruction. Second, the follow-up duration varied among patients and was relatively short in some cases, which may preclude an accurate assessment of long-term outcomes. Furthermore, the absence of a control group (e.g., conventional septal myectomy) prevents a direct evaluation of the relative efficacy and safety of TA-BSM.

Given the rarity of Fabry cardiomyopathy with LVOT obstruction and the novelty of the TA-BSM technique in this population, future research should focus on larger cohorts to validate the safety, reproducibility, and long-term efficacy of this approach. Comparative studies involving conventional surgical myectomy will be essential to define the optimal treatment strategy for Fabry patients with obstructive physiology.

Conclusions

In this case series, we report the first clinical application of TA-BSM in Fabry cardiomyopathy patients with LVOT obstruction. All patients experienced significant symptomatic relief and marked reduction in LVOT gradients, without any perioperative complications. These findings suggest that TA-BSM is a feasible and potentially safe SRT option for obstructive FD patients with symptoms refractory to medical treatment. Further studies with larger cohorts and long-term follow-up are warranted to validate these preliminary findings and to compare TA-BSM with conventional surgical approaches.

Acknowledgments

None.

Footnote

Reporting Checklist: The authors have completed the PROCESS reporting checklist. Available at https://qims.amegroups.com/article/view/10.21037/qims-2025-893/rc

Funding: This work was supported by the National Natural Science Foundation of China (No. 82472010); and Cardiovascular Ultrasound Innovation Team of Yunnan Province (No. 202305AS350021).

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://qims.amegroups.com/article/view/10.21037/qims-2025-893/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and national research committee and with the Helsinki Declaration and its subsequent amendments. This study followed the protocol approved by the Ethics Committee of Tongji Medical College (approval Nos. 2022-S013, 2022-S013-1, 2022-S013-2, 2022-S013-3, 2022-S013-4; also registered at ClinicalTrials.gov, NCT05332691). Written informed consent was obtained from the patients for publication of this study and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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