Successful perinatal management in pregnant women with R9 limb-girdle muscular dystrophy with a left ventricular ejection fraction of 27%: A case report

Successful perinatal management in pregnant women with R9 limb-girdle muscular dystrophy with a left ventricular ejection fraction of 27%: A case report | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Successful perinatal management in pregnant women with R9 limb-girdle muscular dystrophy with a left ventricular ejection fraction of 27%: A case report Wenchi Xie, Jie Mei This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-4822374/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract A 29-year-old patient with muscle weakness at 26 + 5 weeks of pregnancy was hospitalized for heart failure, and genetic testing revealed that she had R9 limb-girdle muscular dystrophy (LGMDR9). Because LGMDR9 is associated with cardiac and respiratory dysfunction, to prevent further deterioration of cardiac function and muscle weakness, we promoted fetal lung maturation and performed an emergency cesarean section at 29 + 2 weeks. This case highlights the importance of choosing the right mode of delivery, timing of delivery, and early genetic testing for LGMDR9 patients. case report limb-girdle muscular dystrophy pregnancy cardiomyopathy heart failure Figures Figure 1 Introduction Heart failure (HF, LVEF < 30%, NYHA functional class III-IV) is classified as WHO category IV (contraindication to pregnancy), and its risk associated with maternal death or severe morbidity is extremely high 1 . Although there have been case reports of patients with HF becoming pregnant and successfully delivering, multidisciplinary treatment is needed for such patients, especially for those with genetic disorders that lead to progressive cardiac decompensation 2 . The fukutin-associated protein-encoding gene (FKRP) encodes a protein required for the posttranslational glycosylation of α -dystroglycan, which is essential for membrane stability. Mutations in FKRP have been shown to cause R9 limb-girdle muscular dystrophy (LGMDR9, formerly known as LGMD2I), an autosomal recessive muscular dystrophy characterized by progressive weakness and atrophy of proximal muscles, variable age of onset, normal cognitive function, elevated serum creatine kinase (CK), and frequent cardiac and respiratory dysfunction 3 – 5 . LGMD is very rare, with an incidence of 0.43 per 100,000 people 6 . Pregnancy rates in patients with LGMDR9 are similar to those in the general population, but muscle weakness worsens in approximately half of pregnant women. In addition, pregnant women with LGMDR9 have increased perinatal mortality due to respiratory and circulatory complications and weak smooth muscle contraction during labor 7 , 8 . With the advent of genetic testing, an increasing number of cases of LGMDR9 are being detected. Therefore, there may also be a greater need for a physician skilled in the management of LGMDR9 in pregnant women. To the best of our knowledge, there are currently no studies on strategies for the management of LGMDR9 pregnancies. This report describes the successful management of pregnancy in an LGMDR9 patient with HF. Case Report A 29-year-old patient with muscle weakness at 26 + 5 weeks of pregnancy was referred to our hospital in January because of abnormal cardiac function after pneumonia treatment, and the main symptoms were dyspnea, obvious exertion after activity, and occasional chest pain. Ultrasound revealed a broadly reduced amplitude of motion of the left ventricular wall, overall uncoordinated movement, and an LVEF of 27%. Other parameters of cardiac function were as follows: BNP, 55.4 pg/ml; creatine kinase, 154 U/L; ECG, sinus rhythm; and the electrical axis was normal. The patient had a history of myasthenia for 21 years, no genetic testing was performed, and the pregnant woman's parents were close relatives. Examination revealed a uniform heart rhythm, and no murmurs were heard. Head muscle strength grade 0, proximal upper extremities: Grade 3 on the right side, Grade 2 + on the left side, muscle strength grade 2 in both lower extremities, spinal deformity, and Achilles tendon contracture ( Fig. 1 ) . After admission, we developed a diagnosis and treatment plan through multidisciplinary consultation. Muscular dystrophy and muscular dystrophic cardiomyopathy were considered. To confirm the diagnosis, electromyography revealed that the muscles examined were prone to chronic myogenic damage and that the serum creatine kinase level was 154 U/L. High-throughput sequencing was used to detect whole-exome genes, and one homozygous mutation in the FKRP gene was analyzed: nucleotide 823 changed from cytosine C to thymine T (c.823C > T), resulting in a change from arginine to cysteine (p. Arg275Cys) ( Table 1 ) . According to the ACMG guidelines ( http://acmg.cbgc.org.cn ), this variant was preliminarily determined to be pathogenic (PP3 Moderate + PM3 Very Strong + PM2 Supporting). According to the patient’s history, they had normal cognitive function and slowly progressive proximal limb weakness from the age of 8 years, and the patient was then diagnosed with LGMDR9. Table 1 Results of the gene sequencing. *Associated with muscular dystrophy, limb girdle 2I: Lin, et al. BrainDev, 29, 234, 2007 [PMID:17055682]|30293248|30816495|32576226|34602496 ClinVar: Conflicting classifications of pathogenicity, Walker‒Warburg congenital muscular dystrophy | Muscular dystrophy‒dystroglycanopathy (congenital with brain and eye anomalies), type A5|not provided | Autosomal recessive limb‒girdle muscular dystrophy type 2I. Gene Chromosomal position Transcript exons Nucleotide amino acids Homozygous /Heterozygous Normal frequency Prognosis ACMG Pathogenicity analysis (score) FKRP chr19:472 59530* NM-0243 01.5;exon4 c.823C > T (P.Arg275 Cys) hom 0.0001945 D Pathogenic Considering that the patient's limb muscle strength was impaired, it was difficult for them to raise their head, and myocardial involvement was suggested. With increasing gestational age, the amount of blood returning to the heart increases, and malignant arrhythmia, cardiac arrest, and sudden cardiac death may occur at any time. After two courses of dexamethasone sodium phosphate to promote fetal lung maturation, we terminated the pregnancy via cesarean section under general anesthesia at 29 + 2 weeks, and the surgery was successful. She gave birth to a healthy boy weighing 980 grams with APGAR scores of 6, 9, and 10 at 1, 5, and 10 minutes, respectively. Considering the weakness of uterine smooth muscle contraction, a uterine band suture was used to stop the bleeding. After delivery, the patient was admitted to the ICU, and the newborn was admitted to the neonatal intensive care unit. The patient was treated with amlodipine hydrochloride, which dilates blood vessels; opioid sedation; calcium sensitizer levosimendan cardiotonics; and a furosemide diuretic. Moreover, cefazolin sodium was used to prevent infection, bronchodilators were used to relieve dyspnea caused by heart failure, and potassium chloride was used as a supplement to prevent malignant arrhythmias. One day after successful extubation in the ICU, the patient was in stable condition, and her vital signs stabilized, so she was then transferred back to the general ward. Eventually, both the mother and child were safely discharged from the hospital without major sequelae. After discharge, the combination of perindopril, metoprolol, spironolactone, empagliflozin, coenzyme Q10, and digoxin was used for symptomatic treatment of cardiac insufficiency, and at the same time, we performed genetic testing on the neonate; fortunately, no relevant pathogenic genes were found. Two months after discharge, the patient had a follow-up BNP of 48 pg/ml and was in good condition. Discussion LGMDR9 women who get pregnant may encounter many challenges. First, muscle weakness symptoms may develop significantly during pregnancy. It manifests mainly as marked weakness of the pelvic girdle and trunk muscles. Contraction of the abdominal or pelvic muscles is important for daily activities, and if not functioning properly, the risk of dystocia increases greatly 9 . Second, severe cases of LGMDR9 may be associated with impaired circulatory function, which is further exacerbated by the physiological demands of pregnancy, which may lead to inadequate blood supply to the placenta, fetal growth restriction, and even fetal intrauterine death. Moreover, it may lead to deterioration of maternal cardiac function, which greatly increases perinatal mortality 6 . In addition, as the fetus grows and the uterus pushes on the diaphragm, the ability to breathe may decrease. This may necessitate early cesarean section. Therefore, patients with muscular dystrophy may have a higher rate of cesarean section 10 . Therefore, early diagnosis is particularly important. A general lack of awareness of LGMD disease among physicians, combined with often vague and nonspecific symptoms, makes patient identification and diagnosis difficult. In these patients, their history is first thoroughly examined to determine whether there is a family history of the disease and to understand the onset of symptoms and the distribution of muscle involvement. In recent years, genetic testing has become more widely used for final biochemical confirmation of LGMD because of its higher specificity than muscle biopsy and immunostaining 11 . For such patients, actively carrying out genetic testing to confirm the diagnosis of the disease, actively carrying out early exercise training to increase the physical fitness of patients, and preventing infection and heart failure during pregnancy are recommended 12 . With respect to the mode of delivery, some patients with mild symptoms may try a vaginal delivery, but they are more likely to have assisted labor and induced labor. In a cohort study, the proportions of patients with LGMDR9 who had assisted labor (35%) and induced labor (70%) were significantly greater than the national average (3% and 27%, respectively) 8 . Cesarean section is usually recommended if there are blood gas abnormalities during pregnancy, a lung capacity less than 1 to 1.5 liters, pulmonary hypertension or HF, diaphragm or abdominal weakness, or pelvic abnormalities. Therefore, for LGMDR9 patients with HF, cesarean section can be selected to ensure the safety of mothers and children 13 . Early cesarean section can shorten the volume loading period and enable a more aggressive approach to HF; however, iatrogenic preterm labor may have a negative impact on offspring. On the other hand, patients with heart failure are more likely to experience fetal death and intrauterine growth retardation, so we should be more proactive in promoting fetal lung maturation and choosing the right time for cesarean section to terminate pregnancy 14 . Moreover, planning preconception is important for LGMDR9 patients. Genetic counseling and prenatal diagnosis are desirable given that they could reduce the birth rate of fetuses with genetic predispositions. LGMDR9 patients with HF can consider the use of β-receptor blockers, diuretics, and vasodilators to improve cardiac function before and during pregnancy. Suppression of the renin‒angiotensin‒aldosterone system should be restored as soon as possible after delivery 2 . In LGMDR9 patients at high risk of sudden cardiac death, ICD implantation can be considered prior to pregnancy. ICD use during pregnancy does not increase the risk of ICD-related complications. If an emergency arises, ICDs are recommended 12 . Conclusion In this case involving a LGMDR9 patient with HF, we made a genetic diagnosis in time based on the patient's past medical history and clinical manifestations and chose cesarean section to terminate the pregnancy considering the symptoms of severe cardiac insufficiency, which avoided adverse outcomes. The findings of this case should be used as a reference for the treatment of pregnant women with other genetic diseases. Declarations Ethical approval This study is exempt from ethical approval. Conflict of interest The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. Funding This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. Author Contribution WX participated in the analysis, interpretation, and drafting of the paper. JM critically reviewed the manuscript. All authors approved the final version submitted. Acknowledgments Not applicable. Data availability statement Not applicable. References Elkayam U, Goland S, Pieper PG, Silversides CK. High-Risk Cardiac Disease in Pregnancy. J Am Coll Cardiol. 2016;68:396–410. 10.1016/j.jacc.2016.05.048 . Inoue W, Motoki H, Yoshie K, Kuwahara K. Successful Management of a Pregnant Patient with Danon Cardiomyopathy. Intern Med. 2024;63:681–6. 10.2169/internalmedicine.1673-23 . Xie Z, Xiao J, Zheng Y, Wang Z, Yuan Y. (2018). Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A > G in the FKRP Gene. BioMed Research International 2018 , 1–10. 10.1155/2018/3710814 Richard I, Laurent J-P, Cirak S, Vissing J, Brown S, Campbell K, Cirak S, Gicquel E, Hogrel J-Y, Honnet G et al. (2016). 216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands. Neuromuscular Disorders 26 , 717–724. 10.1016/j.nmd.2016.08.012 Unnikrishnan G, Polavarapu K, Bardhan M, Nashi S, Vengalil S, Preethish-Kumar V, Valasani RK, Huddar A, Nishadham V, Nandeesh BN, Nalini A. Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients. J Neuromuscul Dis. 2023;10:615–26. 10.3233/jnd-221618 . von Guionneau A, Burford C, Stone S. Obstetric management of a woman with limb-girdle muscular dystrophy type 2i and dilated cardiomyopathy. Obstetric Med. 2018;12:199–201. 10.1177/1753495x18814622 . Libell EM, Richardson JA, Lutz KL, Ng BY, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman BM, Edens ER, Reinking BE, Mathews KD. Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related. Muscle Nerve. 2020;62:626–32. 10.1002/mus.27052 . Libell EM, Bowdler NC, Stephan CM, Zimmerman MB, Gedlinske AM, Mathews KD. The outcomes and experience of pregnancy in limb girdle muscular dystrophy type R9. Muscle Nerve. 2021;63:812–7. 10.1002/mus.27184 . Black C, Said J. Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy. Obstetric Med. 2010;3:81–2. 10.1258/om.2010.090052 . Vavrinkova B, B.T. Pregnancy and delivery in Leyden-Möbius muscular dystrophy. Case Rep Neuro Endocrinol Lett. 2015;36:243–5. Villar Quiles RN, Richard I, Bouchet-Seraphin C, Stojkovic T. (2021). La dystrophie musculaire des ceintures de type R9 liée au gène FKRP. médecine/sciences 36 , 28–33. 10.1051/medsci/2020239 Regitz-Zagrosek V, Roos-Hesselink JW, Bauersachs J, Blomström-Lundqvist C, Cífková R, De Bonis M, Iung B, Johnson MR, Kintscher U, Kranke P, et al. 2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy. Eur Heart J. 2018;39:3165–241. 10.1093/eurheartj/ehy340 . Allen T, Maguire S. Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section. Int J Obstet Anesth. 2007;16:370–4. 10.1016/j.ijoa.2007.03.003 . Elkayam U, Goland S, Pieper PG, Silversides CK. High-Risk Cardiac Disease in Pregnancy. J Am Coll Cardiol. 2016;68:502–16. 10.1016/j.jacc.2016.05.050 . Additional Declarations No competing interests reported. Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-4822374","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":344851184,"identity":"f25e64ca-f641-4730-b353-33bf3f888d25","order_by":0,"name":"Wenchi Xie","email":"","orcid":"","institution":"Southwest Medical University","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Wenchi","middleName":"","lastName":"Xie","suffix":""},{"id":344851185,"identity":"20ae484f-8237-4b0f-b891-8cc9f709b02e","order_by":1,"name":"Jie Mei","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA00lEQVRIiWNgGAWjYBACNmb+7x8SKmzq2/ibDxCnhY+9wYzhwZk0xn6JYwnEaZHjOWDG+LDtEOPMhhwDIh0mkZD2ILHtALPBgTMfb7xhsJPTbSCs5bhBwrk7bAaHezdbzmFINjY7QFBLYoNEQtkzHoMDZ7dJ8zAcSNxGWEsyg0QC22EJgwM5z4jUwnMM6La2wwaSDTlsRGph72E2SDiTlsAvcczYco4BEX6Rb+ZhfPijwiaBjb/54Y03FXZyBLWgAAkeIqMGWQupOkbBKBgFo2BEAAC8Q0Uj5B7m8gAAAABJRU5ErkJggg==","orcid":"","institution":"Sichuan Academy of Medical Sciences \u0026 Sichuan Provincial People's Hospital","correspondingAuthor":true,"submittingAuthor":false,"prefix":"","firstName":"Jie","middleName":"","lastName":"Mei","suffix":""}],"badges":[],"createdAt":"2024-07-29 13:29:19","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-4822374/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-4822374/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":64007138,"identity":"4d987cf2-8bfc-475d-8489-ffb026be7fbd","added_by":"auto","created_at":"2024-09-04 21:55:51","extension":"jpg","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":326724,"visible":true,"origin":"","legend":"\u003cp\u003eThe patient's pelvis is affected; the lower limbs cannot be extended in the supine position, but are rather abducted and externally rotated\u003c/p\u003e","description":"","filename":"Figure1.jpg","url":"https://assets-eu.researchsquare.com/files/rs-4822374/v1/0dbaf17a055a21c10faef313.jpg"},{"id":68680808,"identity":"77633c90-b08c-403c-a7f3-e4df3e76f252","added_by":"auto","created_at":"2024-11-11 03:32:06","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":2188792,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-4822374/v1/b03f1808-e5f4-4c63-9518-ef246a68e48b.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Successful perinatal management in pregnant women with R9 limb-girdle muscular dystrophy with a left ventricular ejection fraction of 27%: A case report","fulltext":[{"header":"Introduction","content":"\u003cp\u003eHeart failure (HF, LVEF\u0026thinsp;\u0026lt;\u0026thinsp;30%, NYHA functional class III-IV) is classified as WHO category IV (contraindication to pregnancy), and its risk associated with maternal death or severe morbidity is extremely high\u003csup\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e\u003c/sup\u003e. Although there have been case reports of patients with HF becoming pregnant and successfully delivering, multidisciplinary treatment is needed for such patients, especially for those with genetic disorders that lead to progressive cardiac decompensation\u003csup\u003e\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eThe fukutin-associated protein-encoding gene (FKRP) encodes a protein required for the posttranslational glycosylation of \u003cb\u003eα\u003c/b\u003e-dystroglycan, which is essential for membrane stability. Mutations in FKRP have been shown to cause R9 limb-girdle muscular dystrophy (LGMDR9, formerly known as LGMD2I), an autosomal recessive muscular dystrophy characterized by progressive weakness and atrophy of proximal muscles, variable age of onset, normal cognitive function, elevated serum creatine kinase (CK), and frequent cardiac and respiratory dysfunction\u003csup\u003e\u003cspan additionalcitationids=\"CR4\" citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e\u003c/sup\u003e. LGMD is very rare, with an incidence of 0.43 per 100,000 people\u003csup\u003e\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u003c/sup\u003e. Pregnancy rates in patients with LGMDR9 are similar to those in the general population, but muscle weakness worsens in approximately half of pregnant women. In addition, pregnant women with LGMDR9 have increased perinatal mortality due to respiratory and circulatory complications and weak smooth muscle contraction during labor\u003csup\u003e\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e,\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eWith the advent of genetic testing, an increasing number of cases of LGMDR9 are being detected. Therefore, there may also be a greater need for a physician skilled in the management of LGMDR9 in pregnant women. To the best of our knowledge, there are currently no studies on strategies for the management of LGMDR9 pregnancies. This report describes the successful management of pregnancy in an LGMDR9 patient with HF.\u003c/p\u003e"},{"header":"Case Report","content":"\u003cp\u003eA 29-year-old patient with muscle weakness at 26\u0026thinsp;+\u0026thinsp;5 weeks of pregnancy was referred to our hospital in January because of abnormal cardiac function after pneumonia treatment, and the main symptoms were dyspnea, obvious exertion after activity, and occasional chest pain. Ultrasound revealed a broadly reduced amplitude of motion of the left ventricular wall, overall uncoordinated movement, and an LVEF of 27%. Other parameters of cardiac function were as follows: BNP, 55.4 pg/ml; creatine kinase, 154 U/L; ECG, sinus rhythm; and the electrical axis was normal. The patient had a history of myasthenia for 21 years, no genetic testing was performed, and the pregnant woman's parents were close relatives. Examination revealed a uniform heart rhythm, and no murmurs were heard. Head muscle strength grade 0, proximal upper extremities: Grade 3 on the right side, Grade 2\u0026thinsp;+\u0026thinsp;on the left side, muscle strength grade 2 in both lower extremities, spinal deformity, and Achilles tendon contracture \u003cb\u003e(\u003c/b\u003eFig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e\u003cb\u003e)\u003c/b\u003e.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003eAfter admission, we developed a diagnosis and treatment plan through multidisciplinary consultation. Muscular dystrophy and muscular dystrophic cardiomyopathy were considered. To confirm the diagnosis, electromyography revealed that the muscles examined were prone to chronic myogenic damage and that the serum creatine kinase level was 154 U/L. High-throughput sequencing was used to detect whole-exome genes, and one homozygous mutation in the FKRP gene was analyzed: nucleotide 823 changed from cytosine C to thymine T (c.823C\u0026thinsp;\u0026gt;\u0026thinsp;T), resulting in a change from arginine to cysteine (p. Arg275Cys) \u003cb\u003e(\u003c/b\u003eTable\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e\u003cb\u003e)\u003c/b\u003e. According to the ACMG guidelines (\u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttp://acmg.cbgc.org.cn\u003c/span\u003e\u003cspan address=\"http://acmg.cbgc.org.cn\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e), this variant was preliminarily determined to be pathogenic (PP3 Moderate\u0026thinsp;+\u0026thinsp;PM3 Very Strong\u0026thinsp;+\u0026thinsp;PM2 Supporting). According to the patient\u0026rsquo;s history, they had normal cognitive function and slowly progressive proximal limb weakness from the age of 8 years, and the patient was then diagnosed with LGMDR9.\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eResults of the gene sequencing. *Associated with muscular dystrophy, limb girdle 2I: Lin, et al. BrainDev, 29, 234, 2007 [PMID:17055682]|30293248|30816495|32576226|34602496 ClinVar: Conflicting classifications of pathogenicity, Walker‒Warburg congenital muscular dystrophy | Muscular dystrophy‒dystroglycanopathy (congenital with brain and eye anomalies), type A5|not provided | Autosomal recessive limb‒girdle muscular dystrophy type 2I.\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"8\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c5\" colnum=\"5\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c6\" colnum=\"6\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c7\" colnum=\"7\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c8\" colnum=\"8\"\u003e\u003c/div\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eGene\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eChromosomal\u003c/p\u003e \u003cp\u003eposition\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eTranscript\u003c/p\u003e \u003cp\u003eexons\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eNucleotide\u003c/p\u003e \u003cp\u003eamino acids\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eHomozygous\u003c/p\u003e \u003cp\u003e/Heterozygous\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eNormal\u003c/p\u003e \u003cp\u003efrequency\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003ePrognosis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eACMG\u003c/p\u003e \u003cp\u003ePathogenicity\u003c/p\u003e \u003cp\u003eanalysis (score)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFKRP\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003echr19:472\u003c/p\u003e \u003cp\u003e59530*\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eNM-0243\u003c/p\u003e \u003cp\u003e01.5;exon4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003ec.823C\u0026thinsp;\u0026gt;\u0026thinsp;T\u003c/p\u003e \u003cp\u003e(P.Arg275\u003c/p\u003e \u003cp\u003eCys)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003ehom\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e0.0001945\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eD\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003ePathogenic\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eConsidering that the patient's limb muscle strength was impaired, it was difficult for them to raise their head, and myocardial involvement was suggested. With increasing gestational age, the amount of blood returning to the heart increases, and malignant arrhythmia, cardiac arrest, and sudden cardiac death may occur at any time. After two courses of dexamethasone sodium phosphate to promote fetal lung maturation, we terminated the pregnancy via cesarean section under general anesthesia at 29\u0026thinsp;+\u0026thinsp;2 weeks, and the surgery was successful. She gave birth to a healthy boy weighing 980 grams with APGAR scores of 6, 9, and 10 at 1, 5, and 10 minutes, respectively. Considering the weakness of uterine smooth muscle contraction, a uterine band suture was used to stop the bleeding.\u003c/p\u003e \u003cp\u003eAfter delivery, the patient was admitted to the ICU, and the newborn was admitted to the neonatal intensive care unit. The patient was treated with amlodipine hydrochloride, which dilates blood vessels; opioid sedation; calcium sensitizer levosimendan cardiotonics; and a furosemide diuretic. Moreover, cefazolin sodium was used to prevent infection, bronchodilators were used to relieve dyspnea caused by heart failure, and potassium chloride was used as a supplement to prevent malignant arrhythmias. One day after successful extubation in the ICU, the patient was in stable condition, and her vital signs stabilized, so she was then transferred back to the general ward. Eventually, both the mother and child were safely discharged from the hospital without major sequelae.\u003c/p\u003e \u003cp\u003eAfter discharge, the combination of perindopril, metoprolol, spironolactone, empagliflozin, coenzyme Q10, and digoxin was used for symptomatic treatment of cardiac insufficiency, and at the same time, we performed genetic testing on the neonate; fortunately, no relevant pathogenic genes were found. Two months after discharge, the patient had a follow-up BNP of 48 pg/ml and was in good condition.\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eLGMDR9 women who get pregnant may encounter many challenges. First, muscle weakness symptoms may develop significantly during pregnancy. It manifests mainly as marked weakness of the pelvic girdle and trunk muscles. Contraction of the abdominal or pelvic muscles is important for daily activities, and if not functioning properly, the risk of dystocia increases greatly\u003csup\u003e\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e\u003c/sup\u003e. Second, severe cases of LGMDR9 may be associated with impaired circulatory function, which is further exacerbated by the physiological demands of pregnancy, which may lead to inadequate blood supply to the placenta, fetal growth restriction, and even fetal intrauterine death. Moreover, it may lead to deterioration of maternal cardiac function, which greatly increases perinatal mortality\u003csup\u003e\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u003c/sup\u003e. In addition, as the fetus grows and the uterus pushes on the diaphragm, the ability to breathe may decrease. This may necessitate early cesarean section. Therefore, patients with muscular dystrophy may have a higher rate of cesarean section\u003csup\u003e\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eTherefore, early diagnosis is particularly important. A general lack of awareness of LGMD disease among physicians, combined with often vague and nonspecific symptoms, makes patient identification and diagnosis difficult. In these patients, their history is first thoroughly examined to determine whether there is a family history of the disease and to understand the onset of symptoms and the distribution of muscle involvement. In recent years, genetic testing has become more widely used for final biochemical confirmation of LGMD because of its higher specificity than muscle biopsy and immunostaining\u003csup\u003e\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e\u003c/sup\u003e. For such patients, actively carrying out genetic testing to confirm the diagnosis of the disease, actively carrying out early exercise training to increase the physical fitness of patients, and preventing infection and heart failure during pregnancy are recommended\u003csup\u003e\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eWith respect to the mode of delivery, some patients with mild symptoms may try a vaginal delivery, but they are more likely to have assisted labor and induced labor. In a cohort study, the proportions of patients with LGMDR9 who had assisted labor (35%) and induced labor (70%) were significantly greater than the national average (3% and 27%, respectively)\u003csup\u003e\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e\u003c/sup\u003e. Cesarean section is usually recommended if there are blood gas abnormalities during pregnancy, a lung capacity less than 1 to 1.5 liters, pulmonary hypertension or HF, diaphragm or abdominal weakness, or pelvic abnormalities. Therefore, for LGMDR9 patients with HF, cesarean section can be selected to ensure the safety of mothers and children\u003csup\u003e\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e\u003c/sup\u003e. Early cesarean section can shorten the volume loading period and enable a more aggressive approach to HF; however, iatrogenic preterm labor may have a negative impact on offspring. On the other hand, patients with heart failure are more likely to experience fetal death and intrauterine growth retardation, so we should be more proactive in promoting fetal lung maturation and choosing the right time for cesarean section to terminate pregnancy\u003csup\u003e\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eMoreover, planning preconception is important for LGMDR9 patients. Genetic counseling and prenatal diagnosis are desirable given that they could reduce the birth rate of fetuses with genetic predispositions. LGMDR9 patients with HF can consider the use of β-receptor blockers, diuretics, and vasodilators to improve cardiac function before and during pregnancy. Suppression of the renin‒angiotensin‒aldosterone system should be restored as soon as possible after delivery\u003csup\u003e\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u003c/sup\u003e. In LGMDR9 patients at high risk of sudden cardiac death, ICD implantation can be considered prior to pregnancy. ICD use during pregnancy does not increase the risk of ICD-related complications. If an emergency arises, ICDs are recommended\u003csup\u003e\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e\u003c/sup\u003e.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eIn this case involving a LGMDR9 patient with HF, we made a genetic diagnosis in time based on the patient's past medical history and clinical manifestations and chose cesarean section to terminate the pregnancy considering the symptoms of severe cardiac insufficiency, which avoided adverse outcomes. The findings of this case should be used as a reference for the treatment of pregnant women with other genetic diseases.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e \u003cstrong\u003eEthical approval\u003c/strong\u003e \u003cp\u003eThis study is exempt from ethical approval.\u003c/p\u003e \u003c/p\u003e\u003cp\u003e \u003ch2\u003eConflict of interest\u003c/h2\u003e \u003cp\u003eThe authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.\u003c/p\u003e \u003c/p\u003e\u003ch2\u003eFunding\u003c/h2\u003e \u003cp\u003eThis research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eWX participated in the analysis, interpretation, and drafting of the paper. JM critically reviewed the manuscript. All authors approved the final version submitted.\u003c/p\u003e\u003ch2\u003eAcknowledgments\u003c/h2\u003e \u003cp\u003eNot applicable.\u003c/p\u003e\u003ch2\u003eData availability statement\u003c/h2\u003e \u003cp\u003eNot applicable.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eElkayam U, Goland S, Pieper PG, Silversides CK. High-Risk Cardiac Disease in Pregnancy. J Am Coll Cardiol. 2016;68:396\u0026ndash;410. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1016/j.jacc.2016.05.048\u003c/span\u003e\u003cspan address=\"10.1016/j.jacc.2016.05.048\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eInoue W, Motoki H, Yoshie K, Kuwahara K. Successful Management of a Pregnant Patient with Danon Cardiomyopathy. 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Eur Heart J. 2018;39:3165\u0026ndash;241. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1093/eurheartj/ehy340\u003c/span\u003e\u003cspan address=\"10.1093/eurheartj/ehy340\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAllen T, Maguire S. Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section. Int J Obstet Anesth. 2007;16:370\u0026ndash;4. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1016/j.ijoa.2007.03.003\u003c/span\u003e\u003cspan address=\"10.1016/j.ijoa.2007.03.003\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eElkayam U, Goland S, Pieper PG, Silversides CK. High-Risk Cardiac Disease in Pregnancy. J Am Coll Cardiol. 2016;68:502\u0026ndash;16. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1016/j.jacc.2016.05.050\u003c/span\u003e\u003cspan address=\"10.1016/j.jacc.2016.05.050\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"case report, limb-girdle muscular dystrophy, pregnancy, cardiomyopathy, heart failure","lastPublishedDoi":"10.21203/rs.3.rs-4822374/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-4822374/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eA 29-year-old patient with muscle weakness at 26\u0026thinsp;+\u0026thinsp;5 weeks of pregnancy was hospitalized for heart failure, and genetic testing revealed that she had R9 limb-girdle muscular dystrophy (LGMDR9). Because LGMDR9 is associated with cardiac and respiratory dysfunction, to prevent further deterioration of cardiac function and muscle weakness, we promoted fetal lung maturation and performed an emergency cesarean section at 29\u0026thinsp;+\u0026thinsp;2 weeks. This case highlights the importance of choosing the right mode of delivery, timing of delivery, and early genetic testing for LGMDR9 patients.\u003c/p\u003e","manuscriptTitle":"Successful perinatal management in pregnant women with R9 limb-girdle muscular dystrophy with a left ventricular ejection fraction of 27%: A case report","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-09-04 21:55:46","doi":"10.21203/rs.3.rs-4822374/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"caf716b9-f8d1-4ef0-bb95-5ee0a162c59b","owner":[],"postedDate":"September 4th, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2024-11-11T03:23:54+00:00","versionOfRecord":[],"versionCreatedAt":"2024-09-04 21:55:46","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-4822374","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-4822374","identity":"rs-4822374","version":["v1"]},"buildId":"CiT4i_kKBbxQbnFL0ufpk","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}