GLA and MYH7 Double Mutation Causing Fabry Disease with Familial Hypertrophic Cardiomyopathy: A Case Report

Q: What does this research mean for the field?

A patient with GLA and MYH7 mutations causing Fabry disease and hypertrophic cardiomyopathy showed improved quality of life after 3 months of treatment, evidenced by a KCCQ score increase from 30.9 to 85.5. Novelty: ClaimNovelty.CONFIRMATORY. Consensus alignment: ConsensusAlignment.NEUTRAL.

Liping Zheng; Lirong Lin; Zhiwei Wu; Shuzhen Chen; Chunfa Weng; Junwei Huang; Meixiang Xie; Jianfang Huang; Jinzao Chen

doi:10.2147/rrcc.s553380

January 1, 2026Research Reports in Clinical CardiologyOpen Access

GLA and MYH7 Double Mutation Causing Fabry Disease with Familial Hypertrophic Cardiomyopathy: A Case Report

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Key result

Multidisciplinary treatment drives a ~55-point KCCQ improvement in a patient with GLA and MYH7 mutations.

Why the study?

To explore clinical manifestations and treatment strategies in a patient with dual GLA and MYH7 mutations causing Fabry disease and HCM, emphasizing the value of comprehensive genetic testing.

Key Points

To examine the clinical presentation and multidisciplinary management of a patient diagnosed with concurrent Fabry disease and familial hypertrophic cardiomyopathy resulting from dual GLA and MYH7 mutations.
Evaluated a 40-year-old Han Chinese woman using echocardiography, electrocardiography, cardiac MRI, genetic sequencing, and α-galactosidase A activity assays.
Administered a multimodal regimen including pharmacotherapy (rivaroxaban, sacubitril/valsartan, bisoprolol, spironolactone, torasemide), agalsidase α enzyme replacement therapy, and surgery for left ventricular outflow tract obstruction.
Baseline testing revealed severe left ventricular hypertrophy with an interventricular septum thickness of 35 mm and a left ventricular outflow tract gradient of 121 mmHg.
At 3 months post-treatment, 6-minute walk test distance increased from 132 to 369 meters, NT-proBNP levels decreased from 2164 to 1911 pg/mL, and the KCCQ score improved from 30.9 to 85.5.

Structured PICO

P

Population

1 40-year-old Han Chinese woman with Fabry disease and familial hypertrophic cardiomyopathy due to dual GLA and MYH7 mutations, presenting with severe left ventricular hypertrophy and left ventricular outflow tract obstruction.

I

Intervention

Multidisciplinary treatment including surgical relief of left ventricular outflow tract obstruction, pharmacotherapy (rivaroxaban 20 mg daily, sacubitril/valsartan 50 mg twice daily, bisoprolol 2.5 mg daily, spironolactone 20 mg daily, torasemide 5 mg daily), and enzyme replacement therapy with agalsidase α concentrate (0.2 mg/kg IV every 2 weeks).

O

Outcome

Improvement in symptoms, exercise tolerance (6-minute walk test), NT-proBNP levels, and quality of life (KCCQ score) at 3 months follow-up.surrogate

A multidisciplinary approach combining surgery, pharmacotherapy, and enzyme replacement therapy effectively improved symptoms and quality of life in a patient with severe hypertrophic cardiomyopathy caused by rare dual GLA and MYH7 mutations.

Limitations

Focus on a single proband and her family
Broader analysis of genotype-phenotype correlations in double mutation carriers is needed
Pathophysiological interplay between the two mutations warrants deeper investigation through basic science studies

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Implication

Supports multidisciplinary care in dual-mutation HCM; leaves open generalizability pending controlled studies.

Abstract

Purpose: To explore clinical manifestations and treatment strategies in a patient with dual GLA and MYH7 mutations causing Fabry disease (FD) and hypertrophic cardiomyopathy (HCM), emphasizing the value of comprehensive genetic testing in complex cardiomyopathies. Patients and Methods: We studied a 40-year-old Han Chinese woman with FD and familial HCM due to GLA and MYH7 mutations. Diagnosis involved echocardiography, electrocardiography, cardiac MRI, genetic sequencing, and α-galactosidase A activity assays. Treatment included pharmacotherapy (rivaroxaban, sacubitril/valsartan, bisoprolol, spironolactone, torasemide), agalsidase α enzyme replacement, and surgery for left ventricular outflow tract obstruction. Results: The patient had severe left ventricular hypertrophy (interventricular septum 35 mm) and significant obstruction (LVOTG 121 mmHg). After 3 months, the 6-minute walk test distance increased from 132 to 369 meters, NT-proBNP levels dropped from 2164 to 1911 pg/mL, and the KCCQ score rose from 30.9 to 85.5, indicating improved quality of life. Conclusion: Comprehensive genetic testing is crucial for diagnosing complex cardiomyopathies. A multidisciplinary approach effectively improves symptoms and quality of life in patients with dual genetic mutations.

Discussion

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Cite This Study

Zheng et al. (2026) studied this question. After 3 months of treatment, the patient with GLA and MYH7 mutations showed improved quality of life, evidenced by a KCCQ score increase from 30.9 to 85.5.

synapsesocial.com/papers/696321ff91e05aa366cb85f7 https://doi.org/10.2147/rrcc.s553380

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GLA and MYH7 Double Mutation Causing Fabry Disease with Familial Hypertrophic Cardiomyopathy: A Case Report

Key Points

Structured PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

GLA and MYH7 Double Mutation Causing Fabry Disease with Familial Hypertrophic Cardiomyopathy: A Case Report

Key Points

Structured PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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