Zhonghua Yu Fang Yi Xue Za Zhi. 2021 Jul 6;55(7):805-810. doi: 10.3760/cma.j.cn112150-20210419-00386.

ABSTRACT

Birth defects and rare diseases are serious challenges in China and even in the world, and most of them lack effective treatment. Preimplantation genetic testing (PGT) prevents the occurrence of this kind of disease at the source by carrying out genetic testing in the preimplantation stage and selecting normal embryos for transplantation. In this paper, the methods of PGT for birth defects and rare diseases and their latest progress are described.

PMID:34304415 | DOI:10.3760/cma.j.cn112150-20210419-00386

Orphanet J Rare Dis. 2021 Jul 23;16(1):328. doi: 10.1186/s13023-021-01953-8.

ABSTRACT

BACKGROUND: Rare diseases are estimated to affect 150-350 million people worldwide. With advances in next generation sequencing, the number of known disease-causing genes has increased significantly, opening the door for therapy development. Rare disease research has therefore pivoted from gene discovery to the exploration of potential therapies. With impending clinical trials on the horizon, researchers are in urgent need of natural history studies to help them identify surrogate markers, validate outcome measures, define historical control patients, and design therapeutic trials.

RESULTS: We customized a browser-accessible multi-modal (e.g. genetics, imaging, behavioral, patient-determined outcomes) database to increase cohort sizes, identify surrogate markers, and foster international collaborations. Ninety data entry forms were developed including family, perinatal, developmental history, clinical examinations, diagnostic investigations, neurological evaluations (i.e. spasticity, dystonia, ataxia, etc.), disability measures, parental stress, and quality of life. A customizable clinical letter generator was created to assist in continuity of patient care.

CONCLUSIONS: Small cohorts and underpowered studies are a major challenge for rare disease research. This online, rare disease database will be accessible from all over the world, making it easier to share and disseminate data. We have outlined the methodology to become Title 21 Code of Federal Regulations Part 11 Compliant, which is a requirement to use electronic records as historical controls in clinical trials in the United States. Food and Drug Administration compliant databases will be life-changing for patients and families when historical control data is used for emerging clinical trials. Future work will leverage these tools to delineate the natural history of several rare diseases and we are confident that this database will be used on a larger scale to improve care for patients affected with rare diseases.

PMID:34301277 | PMC:PMC8299589 | DOI:10.1186/s13023-021-01953-8

Orphanet J Rare Dis. 2021 Jul 22;16(1):327. doi: 10.1186/s13023-021-01954-7.

ABSTRACT

BACKGROUND: There are over 16.8 million rare disease patients in China, representing a large community that should not be neglected. While the public lack the awareness of their existence and difficult status quo, for one reason that they exist as a rare and special group in our society, for another reason that all sectors of the community haven't introduced and propagandized them suitably. However, as a special group with more difficulties in all aspects than normal healthy persons, they need enough care and love from us. To provide a basis for policy-makers to better understand the status quo of rare disease patients and care-givers in China and to devise some new policies to improve their quality of life, a comprehensive analysis of the status quo, unmet needs, difficulty caused by the rare disease is essential.

METHODS: A questionnaire-based online study of patients and care-givers (usually family members) was performed. The questionnaire was composed of 116 questions, such as the diagnosis process, treatment access, financial burden, views on patients' organizations, and a series of standardized tests to assess the quality of their life, including the SF-36, PHQ-9, PHQ-15, GAD-7, and PSQI. To examine the influence of age, disease type, and relationship to patients on the scores in these tests, statistical analysis with a general linear model was conducted.

FINDINGS: A total of 1959 patients and care-givers participated in the survey, representing 104 rare diseases, such as lysosomal storage diseases, hemophilia, and muscular dystrophy diseases. The diagnosis was delayed for 1.4 ± 3.0 years, and patients experienced 1.6 ± 3.8 misdiagnoses between 3.2 ± 2.4 hospitals. The hospitals where diagnoses were made were highly concentrated in 10 large hospitals (43.8%) and 5 big cities (42.1%), indicating a significant inequality of medical resources. The disease often led to difficulty in social life, education, and employment, as well as financial burden that was seldom covered by medical insurance. A battery of standardized tests demonstrated poor health status, depression, somatization, anxiety, and sleeping issues among both patients and care-givers (p < 0.05). Statistical analysis of the questionnaire also showed that poor health, anxiety, depression, somatization, and sleeping problems were more prevalent in patients than in care-givers, and more prevalent in more severe diseases (e.g., hemophilia, Dravet) or undiagnosed than in other diseases.

INTERPRETATIONS: This study identified the lack of rare disease awareness and legislative support as the major challenge to rare diseases in China, and makes key recommendations for policy-makers, including legislating orphan drug act, raising rare disease awareness, providing sufficient and fair opportunities about education and employment, expanding the medical insurance coverage of treatments, and protecting rights in education and employment.

PMID:34294091 | PMC:PMC8296703 | DOI:10.1186/s13023-021-01954-7

Transl Lung Cancer Res. 2021 Jun;10(6):2988-3000. doi: 10.21037/tlcr-20-673.

ABSTRACT

Malignant pleural mesothelioma (MPM) is a rare, aggressive cancer of the pleural surface, associated with asbestos exposure, whose incidence is still growing in some areas of the world. MPM is still considered a rare and an orphan disease with an unchanged median overall survival (OS) ranging from 8 to 14 months and no treatment advances in the last 15 years both in local and advanced disease. In the recent years, chronic inflammation of the mesothelium together with local tumor suppression plays a major role in the malignant transformation. Also, significant heterogeneity in both tumor and the microenvironment is at the basis of MPM biology. Preclinical data have demonstrated the immunogenicity and the lack of an effective antitumor response by the immune system in MPM thus paving the way to the development of immune therapeutics in this disease. Still there is no clear evidence of any predictive biomarker so that, given the close interaction between the immune infiltrate and mesothelial cells, a number of trials are ongoing to investigate the role and prognostic value of the immune microenvironment. In this review we summarize the rationale for immune therapeutics development in MPM, as well as, the relevant literature and ongoing trials of immune checkpoint inhibitors (ICIs) and vaccines used as both first-line treatment and beyond.

PMID:34295692 | PMC:PMC8264322 | DOI:10.21037/tlcr-20-673

Arq Bras Oftalmol. 2021 Jul-Aug;84(4):406-407. doi: 10.5935/0004-2749.202100106.

NO ABSTRACT

PMID:34287519 | DOI:10.5935/0004-2749.202100106

Yi Chuan. 2021 Jun 20;43(6):531-544. doi: 10.16288/j.yczz.21-030.

ABSTRACT

Rare diseases refer to diseases with low incidence. Currently, there are over 8000 rare diseases in the world. Effective prevention and treatment of rare diseases is an important part of 'healthy China'. In this paper, status and drug development of rare diseases were reported. These results indicate that research on rare diseases is growing rapidly driven by technology and policy. The hotspots include the identification of gene mutations, the development of therapies, and the key points of technology include the development of drugs for rare diseases, the development of viral vectors for gene therapy, and the diagnosis and management system for rare diseases. In terms of drug development, 880 drugs have been launched by December 28, 2020, and a large number of drugs are in the pre-clinical stage. Generally, a new technology or drug is applicable to various diseases. In the future, with policy support and the development of emerging technologies such as gene editing, more and more rare diseases will be diagnosed and intervened early, even be cured, and the quality of life of patients is expected to be improved.

PMID:34284986 | DOI:10.16288/j.yczz.21-030

Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(6):81-86. doi: 10.17116/202112106181.

ABSTRACT

Huntington's disease, or Huntington's chorea, is considered as an orphan disease. However, chorea is not the single, and in many cases, not the most severe sign of this disease. Along with motor symptoms, psychiatric symptoms make a significant contribution to patient disability and desocialization. In addition, in many patients, mental and cognitive manifestations can significantly precede motor symptoms. This article considers the most common comorbid mental disorders in this disease, their characteristics and features of the course are given based on literature and own observations.

PMID:34283535 | DOI:10.17116/202112106181

Vnitr Lek. 2021 Summer;67(E-4):9-12.

ABSTRACT

Lymphangiomatosis is rare disease, we can find this entity in differential diagnosis of osteolytic leasions of bones of unknown origin. Typical sign for lymphangiomatosis is proliferation of lymphatic tissue with production of lymphangiomas in various organs and systems. Clinical manifestation of disease is variable, involvement of lungs and bone is typical. In our article we present recent classification of lymphatic tissue neoplasias, their clinical symptoms and treatment possibilities.

PMID:34275313

Orphanet J Rare Dis. 2021 Jul 15;16(1):313. doi: 10.1186/s13023-021-01943-w.

ABSTRACT

BACKGROUND: Parents of children with rare diseases often face uncertainty about diagnosis, treatment, and costs associated with healthcare for their child. Health insurance status impacts each of these areas, but no U.S. study has explored parents' perceptions of the health insurance impacts on their child's care. This study aimed to qualitatively explore how these parents navigate the complex health insurance system for their children and their experiences in doing so.

METHODS: Semi-structured interviews were conducted with parents of children with metachromatic leukodystrophy (MLD) and spinal muscular atrophy (SMA), chosen for specific disease characteristics and orphan drug status. Participants were recruited via e-mail through patient advocacy organizations between September and December 2018. Interviews were conducted via Skype, were recorded, and professionally transcribed. Modified grounded theory was utilized as a methodology to analyze transcripts in an iterative process to determine themes and sub-themes based on participant described experiences.

RESULTS: Major themes and subthemes that emerged across the 15 interviews included: (1) difficulties obtaining secondary insurance based on state eligibility criteria; (2) difficulty accessing needed healthcare services; and (3) need for repeated interactions with insurance representatives. The absence of clearly documented or widely recognized clinical guidelines exacerbated the difficulty accessing care identified as necessary by their healthcare team, such as therapy and equipment. An explanatory model for parent's experiences was developed from the themes and subthemes. The model includes the cyclical nature of interacting with insurance for redundant reauthorizations and the outside support and financial assistance that is often necessary to address their child's healthcare needs.

CONCLUSIONS: With complex health conditions, small setbacks can become costly and disruptive to the health of the child and the life of the family. This study suggests that patients with rare diseases may benefit from time limits for processing coverage decisions, increasing transparency in the claims and preauthorization processes, and more expansive authorizations for on-going needs. Additional studies are needed to understand the full scope of barriers and to inform policies that can facilitate better access for families living with rare diseases.

PMID:34266466 | PMC:PMC8281562 | DOI:10.1186/s13023-021-01943-w

Pediatr Pulmonol. 2021 Jul 15. doi: 10.1002/ppul.25553. Online ahead of print.

ABSTRACT

BACKGROUND: Noncystic fibrosis bronchiectasis (NCFB) is still considered an "orphan disease" in pediatric age.

OBJECTIVE: The study describes the clinical and functional features, the instrumental, and microbial findings of a large cohort of patients with NCFB, followed in a single tertiary level hospital.

METHODS: Children and adolescents diagnosed with NCFB from January 1, 2010 to December 31, 2019 were included. Data from the diagnosis and during the years of follow-up were recorded retrospectively.

RESULTS: One hundred and thirty-eight patients were enrolled. The most common cause of NCFB was postinfectious (33%), followed by primary ciliary dyskinesia (PCD) (30%), esophageal atresia (EA) (9.5%), and secondary immunodeficiency (9.5%). Chronic cough was the most frequent symptom. The median age of symptoms presentation was 3 years (interquartile age [IQR]: 12-84), with a precocious onset in PCD and EA groups. The median age of CT diagnosis was 9 years for all groups but PCD patients who were diagnosed at older age. Lingula, medium, upper, and lower lobes were more involved in PCD group, while diffuse distribution was observed in the postinfectious one. Microbial exams showed Pseudomonas aeruginosa colonization higher in PCD patients (22%). Despite microbial differences in airways colonization, no difference in respiratory exacerbation rate was recorded among groups. Lung function tests demonstrated the stability of forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) over time, except for the secondary immunodeficiency group.

CONCLUSIONS: The role of infections in developed countries should not be underestimated and a major effort to obtain an earlier identification of bronchiectasis should be taken. A prompt diagnosis of NFCB could help to reduce the frequency of exacerbations and improve the stability of lung function over time.

PMID:34265867 | DOI:10.1002/ppul.25553

Cancer Discov. 2021 Jul 14:candisc.0331.2021. doi: 10.1158/2159-8290.CD-21-0331. Online ahead of print.

ABSTRACT

Malignant peritoneal mesothelioma (MPeM) is a rare but aggressive malignancy with limited treatment options. VEGF inhibition enhances efficacy of immune-checkpoint inhibitors by reworking the immunosuppressive tumor milieu. Efficacy and safety of combined PD-L1 (atezolizumab) and VEGF (bevacizumab) blockade (AtezoBev) was assessed in 20 patients with advanced and unresectable MPeM with progression or intolerance to prior platinum-pemetrexed chemotherapy. The primary endpoint of confirmed objective response rate per RECISTv1.1 by independent radiology review was 40% (8/20; 95%CI:19.1-64.0) with median response duration of 12.8 months. Six (75%) responses lasted for >10 months. Progression-free and overall survival at 1-year were 61% (95%CI:35-80) and 85% (95%CI:60-95), respectively. Responses occurred notwithstanding low tumor mutation burden and PD-L1 expression status. Baseline epithelial-mesenchymal transition gene-expression correlated with therapeutic resistance/response (r=0.80; P=0.0010). AtezoBev showed promising and durable efficacy in patients with advanced MPeM with acceptable safety profile and these results address a grave unmet need for this orphan disease.

PMID:34261675 | DOI:10.1158/2159-8290.CD-21-0331

Orphanet J Rare Dis. 2021 Jul 13;16(1):308. doi: 10.1186/s13023-021-01923-0.

ABSTRACT

BACKGROUND: Treatments are often unavailable for rare disease patients, especially in low-and-middle-income countries. Reasons for this include lack of financial support for therapies and onerous regulatory requirements for approval of drugs. Other barriers include lack of reimbursement, administrative infrastructure, and knowledge about diagnosis and drug treatment options. The International Rare Diseases Research Consortium set up the Rare Disease Treatment Access Working Group with the first objective to develop an essential list of medicinal products for rare diseases.

RESULTS: The Working Group extracted 204 drugs for rare diseases in the FDA, EMA databases and/or China's NMPA databases with approval and/or marketing authorization. The drugs were organized in seven disease categories: metabolic, neurologic, hematologic, anti-inflammatory, endocrine, pulmonary, and immunologic, plus a miscellaneous category.

CONCLUSIONS: The proposed list of essential medicinal products for rare diseases is intended to initiate discussion and collaboration among patient advocacy groups, health care providers, industry and government agencies to enhance access to appropriate medicines for all rare disease patients throughout the world.

PMID:34256816 | PMC:PMC8278724 | DOI:10.1186/s13023-021-01923-0

Orphanet J Rare Dis. 2021 Jul 13;16(1):309. doi: 10.1186/s13023-021-01936-9.

ABSTRACT

BACKGROUND: The growing use of Electronic Health Records (EHRs) is promoting the application of data mining in health-care. A promising use of big data in this field is to develop models to support early diagnosis and to establish natural history. Dravet Syndrome (DS) is a rare developmental and epileptic encephalopathy that commonly initiates in the first year of life with febrile seizures (FS). Age at diagnosis is often delayed after 2 years, as it is difficult to differentiate DS at onset from FS. We aimed to explore if some clinical terms (concepts) are significantly more used in the electronic narrative medical reports of individuals with DS before the age of 2 years compared to those of individuals with FS. These concepts would allow an earlier detection of patients with DS resulting in an earlier orientation toward expert centers that can provide early diagnosis and care.

METHODS: Data were collected from the Necker Enfants Malades Hospital using a document-based data warehouse, Dr Warehouse, which employs Natural Language Processing, a computer technology consisting in processing written information. Using Unified Medical Language System Meta-thesaurus, phenotype concepts can be recognized in medical reports. We selected individuals with DS (DS Cohort) and individuals with FS (FS Cohort) with confirmed diagnosis after the age of 4 years. A phenome-wide analysis was performed evaluating the statistical associations between the phenotypes of DS and FS, based on concepts found in the reports produced before 2 years and using a series of logistic regressions.

RESULTS: We found significative higher representation of concepts related to seizures' phenotypes distinguishing DS from FS in the first phases, namely the major recurrence of complex febrile convulsions (long-lasting and/or with focal signs) and other seizure-types. Some typical early onset non-seizure concepts also emerged, in relation to neurodevelopment and gait disorders.

CONCLUSIONS: Narrative medical reports of individuals younger than 2 years with FS contain specific concepts linked to DS diagnosis, which can be automatically detected by software exploiting NLP. This approach could represent an innovative and sustainable methodology to decrease time of diagnosis of DS and could be transposed to other rare diseases.

PMID:34256808 | PMC:PMC8278630 | DOI:10.1186/s13023-021-01936-9

Hautarzt. 2021 Aug;72(8):715-718. doi: 10.1007/s00105-021-04861-x. Epub 2021 Jul 14.

ABSTRACT

Patients affected by acne inversa (hidradenitis suppurativa) initially notice skin changes in atypical areas of the skin. These changes can include purulent inflammation, painfully filled and red-discolored bumps or oozing and strongly smelling, small to larger openings. In order to be able to receive medical help, patients must present to the general practitioner, report their complaints and also show the lesions. This represents an enormous inhibition threshold for those affected. However, the disease is usually recognized too late. This less known skin condition is often confused with other skin diseases. Even after diagnosis, adequate treatment is not always guaranteed. On the patient side, too, fear and feelings of shame prevent the patient from visiting the doctor, long-term therapies without success create a feeling of hopelessness, and fear of losing one's job are reasons for seeking therapy too late. The quality of life is lowest compared to individuals with other dermatoses. In addition to interdisciplinary treatment, the diverse situations experienced by those who are affected need to be acknowledged in social and medical settings.

PMID:34259898 | DOI:10.1007/s00105-021-04861-x

Bioinformatics. 2021 Jul 12;37(Suppl_1):i67-i75. doi: 10.1093/bioinformatics/btab290.

ABSTRACT

MOTIVATION: Identifying altered transcripts between very small human cohorts is particularly challenging and is compounded by the low accrual rate of human subjects in rare diseases or sub-stratified common disorders. Yet, single-subject studies (S3) can compare paired transcriptome samples drawn from the same patient under two conditions (e.g. treated versus pre-treatment) and suggest patient-specific responsive biomechanisms based on the overrepresentation of functionally defined gene sets. These improve statistical power by: (i) reducing the total features tested and (ii) relaxing the requirement of within-cohort uniformity at the transcript level. We propose Inter-N-of-1, a novel method, to identify meaningful differences between very small cohorts by using the effect size of 'single-subject-study'-derived responsive biological mechanisms.

RESULTS: In each subject, Inter-N-of-1 requires applying previously published S3-type N-of-1-pathways MixEnrich to two paired samples (e.g. diseased versus unaffected tissues) for determining patient-specific enriched genes sets: Odds Ratios (S3-OR) and S3-variance using Gene Ontology Biological Processes. To evaluate small cohorts, we calculated the precision and recall of Inter-N-of-1 and that of a control method (GLM+EGS) when comparing two cohorts of decreasing sizes (from 20 versus 20 to 2 versus 2) in a comprehensive six-parameter simulation and in a proof-of-concept clinical dataset. In simulations, the Inter-N-of-1 median precision and recall are > 90% and >75% in cohorts of 3 versus 3 distinct subjects (regardless of the parameter values), whereas conventional methods outperform Inter-N-of-1 at sample sizes 9 versus 9 and larger. Similar results were obtained in the clinical proof-of-concept dataset.

AVAILABILITY AND IMPLEMENTATION: R software is available at Lussierlab.net/BSSD.

PMID:34252934 | DOI:10.1093/bioinformatics/btab290

J Neuromuscul Dis. 2021 Jul 6. doi: 10.3233/JND-210686. Online ahead of print.

ABSTRACT

X-linked myotubular myopathy (XLMTM) is a rare, severe, neuromuscular disorder for which novel treatments are under investigation. This study estimated quality-of-life weights (or utilities) for children with XLMTM. The state that was rated the worst described a child unable to sit and requiring invasive ventilation for≥16 hours a day (utility = -0.07 or -0.27 depending on method used). The state describing a child who can stand and walk and does not require invasive ventilation was the most highly rated state and had a utility of 0.91 or 0.77 (depending on method used).Nine health state vignettes were developed for XLMTM defined in terms of respiratory and motor function based on clinical trial data from parents completing the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) Domain 1 scale assessing mobility, transfers, sitting, playing, eating, grooming and dressing. These data were supplemented with qualitative data from parent interviews on the daily impact of XLMTM, especially in terms of psychological wellbeing, pain and discomfort, and communication. Seven clinical experts reviewed the draft vignettes for accuracy. Vignettes were rated by members of the UK general public using a time trade-off (TTO) interview and an EQ-5D-5L assessment. This study demonstrated a substantial impact of XLMTM on utility weights.

PMID:34250946 | DOI:10.3233/JND-210686

Front Pediatr. 2021 Jun 23;9:662669. doi: 10.3389/fped.2021.662669. eCollection 2021.

ABSTRACT

Progressive osseous heteroplasia (POH; OMIM 166350) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue. POH is one of the clinical manifestations of an inactivating mutation in the GNAS gene. GNAS gene alterations are difficult matter to address, as GNAS alleles show genetic imprinting and produce several transcript products, and the same mutation may lead to strikingly different phenotypes. Also, most of the publications concerning POH patients are either clinical depictions of a case (or a case series), descriptions of their genetic background, or a tentative correlation of both clinical and molecular findings. Treatment for POH is rarely addressed, and POH still lacks therapeutic options. We describe a unique case of POH in two monochorionic twins, who presented an almost asymptomatic vs. the severe clinical course, despite sharing the same mutation and genetic background. We also report the results of the therapeutic interventions currently available for heterotopic ossification in the patient with the severe course. This article not only critically supports the assumption that the POH course is strongly influenced by factors beyond genetic background but also remarks the lack of options for patients suffering an orphan disease, even after testing drugs with promising in vitro results.

PMID:34249809 | PMC:PMC8260848 | DOI:10.3389/fped.2021.662669

Praxis (Bern 1994). 2021 Jul;110(9):529-535. doi: 10.1024/1661-8157/a003674.

ABSTRACT

X-Linked Adrenoleukodystrophy or the Management of Rare Diseases in the General Practice Abstract. We report on a 48-year-old patient with X-linked adrenoleukodystrophy with slowly progressive leg-accentuated spastic paraparesis, vegetative dysfunction with bladder and sexual dysfunction, and primary adrenal insufficiency. The diagnosis of adrenomyeloneuropathy, the adult form of adrenoleukodystrophy, and Addison's disease was made at the age of 20 by evidence of an increased concentration of long-chain fatty acids in the plasma. The therapy is symptom-oriented.

PMID:34231380 | DOI:10.1024/1661-8157/a003674

PLoS Genet. 2021 Jul 7;17(7):e1009639. doi: 10.1371/journal.pgen.1009639. Online ahead of print.

ABSTRACT

ARHGAP42 encodes Rho GTPase activating protein 42 that belongs to a member of the GTPase Regulator Associated with Focal Adhesion Kinase (GRAF) family. ARHGAP42 is involved in blood pressure control by regulating vascular tone. Despite these findings, disorders of human variants in the coding part of ARHGAP42 have not been reported. Here, we describe an 8-year-old girl with childhood interstitial lung disease (chILD), systemic hypertension, and immunological findings who carries a homozygous stop-gain variant (c.469G>T, p.(Glu157Ter)) in the ARHGAP42 gene. The family history is notable for both parents with hypertension. Histopathological examination of the proband lung biopsy showed increased mural smooth muscle in small airways and alveolar septa, and concentric medial hypertrophy in pulmonary arteries. ARHGAP42 stop-gain variant in the proband leads to exon 5 skipping, and reduced ARHGAP42 levels, which was associated with enhanced RhoA and Cdc42 expression. This is the first report linking a homozygous stop-gain variant in ARHGAP42 with a chILD disorder, systemic hypertension, and immunological findings in human patient. Evidence of smooth muscle hypertrophy on lung biopsy and an increase in RhoA/ROCK signaling in patient cells suggests the potential mechanistic link between ARHGAP42 deficiency and the development of chILD disorder.

PMID:34232960 | DOI:10.1371/journal.pgen.1009639

Sultan Qaboos Univ Med J. 2021 May;21(2):e324-e326. doi: 10.18295/squmj.2021.21.02.026. Epub 2021 Jun 21.

ABSTRACT

Cor triatriatum sinistrum (CTS) is a rare congenital cardiac anomaly characterised by an abnormal septum within the left atrium impairing blood flow to the left ventricle. We report the case of a two-month-old male infant who presented with symptoms of heart failure since the age of two weeks. He was admitted to a local hospital and was managed with antibiotics because of the impression of pneumonia. Due to persistent unresolved tachypnoea and tachycardia, he was referred to Sultan Qaboos University Hospital, Muscat, Oman, in 2019 for cardiac evaluation which confirmed a diagnosis of isolated CTS with severe stenosis and pulmonary hypertension. He underwent an urgent surgical excision of the membrane with uneventful recovery.

PMID:34221485 | PMC:PMC8219326 | DOI:10.18295/squmj.2021.21.02.026