Publications by authors named "Wahbi K"
Background: Although genetic variants in are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant location, and explore predictors of bad prognosis in pediatric -related DCM.
Methods And Results: We evaluated clinical records from 44 patients (24 men; median age at diagnosis, 0.
Mexiletine (NaMuscla™) is indicated for the symptomatic treatment of myotonia in adults with non-dystrophic myotonia. A cardiac assessment is required as mexiletine may have a pro-arrhythmic effect. Long-term safety data supporting the use of mexiletine in patients with non-dystrophic myotonia combined with the extensive clinical experience of an expert group resulted in creation of an algorithm for cardiac monitoring of patients treated with mexiletine.
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- Duchenne muscular dystrophy (DMD) leads to severe muscle degeneration and increased risk of heart problems; the review aimed to identify factors predicting cardiac disease in DMD patients.
- The systematic review examined literature from 2000 to 2022, analyzing 33 studies involving over 9,200 DMD patients and assessing the strength of the evidence using the GRADE framework.
- Key findings indicated that certain cardiac medications and DMD gene mutations are linked to better heart function, while glucocorticoids improve left ventricular performance, with varying evidence quality regarding their effectiveness.
Background: Although the optimal approach is debated, systematic genetic screening for hypertrophic cardiomyopathy (HCM) is recommended.
Aims: The performance of this approach was tested in GEREMY, a HCM prospective observational French register.
Methods: Screening was based on a 12-gene panel, including the Fabry disease (GLA) and the transthyretin (TTR) genes.
Article Synopsis
- SCN5A gene variants are linked to various cardiac electrical disorders, but they can also result in complex phenotypes like overlap syndromes, which haven't been thoroughly studied.
- The study analyzed DNA from over 13,500 patients with a focus on those carrying pathogenic SCN5A variants, finding that most were tied to well-defined conditions like Brugada syndrome and long QT syndrome.
- About 19% of the variants were associated with complex phenotypes, and only a small number (8 out of 9,960 patients) showed a potential link to dilated cardiomyopathies (DCM), suggesting it's a rare association.
Background: Immune checkpoint inhibitors (ICIs) can induce cardiovascular toxicities.
Objectives: To prospectively assess the incidence of major cardiovascular events (MACE) on ICIs in solid cancer patients: myocarditis, pericarditis, acute coronary syndrome, heart failure, high-degree conduction abnormalities or sustained ventricular arrhythmias, or cardiovascular death at 6 weeks (early MACE), including asymptomatic clinical changes by an independent adjudication committee using current recommended diagnostic criteria. The secondary objective was the incidence of the above-mentioned events adding atrial fibrillation (AF) at 6 months (late MACE).
Background: The efficacy of current pharmacological therapies in hypertrophic cardiomyopathy is limited. A cardiac myosin inhibitor, mavacamten, has recently been approved as a first-in-class treatment for symptomatic hypertrophic obstructive cardiomyopathy.
Aims: To assess the profile and burden of cardiac myosin inhibitor candidates in the hypertrophic cardiomyopathy prospective Register of hypertrophic cardiomyopathy (REMY) held by the French Society of Cardiology.
In France, mexiletine - a class I antiarrhythmic drug - can be prescribed for the symptomatic treatment of myotonia of the skeletal muscles in adult patients with myotonic dystrophy under a compassionate use programme. Mexiletine is used according to its summary of product characteristics, which describes its use for myotonia treatment in adult patients with non-dystrophic myotonia, a different neuromuscular condition without cardiac involvement. A cardiac assessment is required prior to initiation and throughout treatment due to potential proarrhythmic effects.
View Article and Find Full Text PDFMyofibrillar myopathy (MFM) is a rare genetic disorder characterized by muscular dystrophy that is often associated with cardiac disease. This disease is caused by mutations in several genes, among them DES (encoding desmin) is the most frequently affected. Peripheral blood mononuclear cells from 5 different MFM patients with different DES mutations were reprogrammed into induced pluripotent stem cells (IPSC) using non-integrative vectors.
View Article and Find Full Text PDFBackground: Beyond the observed alterations in cellular structure and mitochondria, the mechanisms linking rare genetic mutations to the development of heart failure in patients affected by desmin mutations remain unclear due in part, to the lack of relevant human cardiomyocyte models.
Methods: To shed light on the role of mitochondria in these mechanisms, we investigated cardiomyocytes derived from human induced pluripotent stem cells carrying the heterozygous DES mutation that were either isolated from a patient or generated by gene editing. To increase physiological relevance, cardiomyocytes were either cultured on an anisotropic micropatterned surface to obtain elongated and aligned cardiomyocytes, or as a cardiac spheroid to create a micro-tissue.
Background And Aims: Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants.
View Article and Find Full Text PDFBackground: Variants in are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine the risk of adverse events in variant carriers and the impact of sex on outcomes.
Methods: Consecutive probands and relatives carrying variants were retrospectively recruited from 12 cardiomyopathy units.
Background Chronic respiratory failure and heart involvement may occur in Duchenne muscular dystrophy. We aimed to assess the prognostic value of the right ventricular (RV) systolic dysfunction in patients with Duchenne muscular dystrophy. Methods and Results We studied 90 genetically proven patients with Duchenne muscular dystrophy from 2010 to 2019, to obtain respiratory function and Doppler echocardiographic RV systolic function.
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- The Protocole National De Diagnostic et de Soins (PNDS) offers guidance to healthcare professionals on providing optimal care for patients with glycogen storage disease type III (GSD III).
- It includes tools for diagnosing the disease's severity, necessary tests for monitoring, and a clearer understanding of treatment aspects.
- However, the PNDS cannot account for all unique patient situations or conditions and should not replace the physician's individual responsibility in patient care.
Becker muscular dystrophy (BMD) is one of the most frequent among neuromuscular diseases, affecting approximately 1 in 18,000 male births. It is linked to a genetic mutation on the X chromosome. In contrast to Duchenne muscular dystrophy, for which improved care and management have changed the prognosis and life expectancy of patients, few guidelines have been published for management of BMD.
View Article and Find Full Text PDFBackground Quantitative MRI is increasingly proposed in clinical trials related to dystrophinopathies, including Becker muscular dystrophy (BMD). Purpose To establish the sensitivity of extracellular volume fraction (ECV) quantification using an MR fingerprinting sequence with water and fat separation as a quantitative imaging biomarker of skeletal muscle tissue alterations in BMD compared with fat fraction (FF) and water relaxation time quantification. Materials and Methods In this prospective study, study participants with BMD and healthy volunteers were included from April 2018 until October 2022 ( identifier NCT02020954).
View Article and Find Full Text PDFHome mechanical ventilation is classically used to treat neuromuscular patients with chronic respiratory insufficiency. Since the heart and lungs are localized in the thorax, intrathoracic pressure may directly affect heart function. Here, we report the direct cyclic effects of mechanical ventilation on the right and left ventricular systolic and diastolic function in serial cases.
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- Patients with mitochondrial diseases are at a higher risk for heart failure (HF) and serious heart-related events, prompting the creation of prediction models to estimate these risks.
- In a study involving 600 adult patients, over 6.67 years, 4.9% developed HF, and 5.1% experienced arrhythmic major adverse cardiac events (MACE).
- Key predictors for these heart issues included specific genetic variants, heart structure changes, and reduced heart function as indicated by low ejection fractions.*
Article Synopsis
- The prevalence of heart failure (HF) is rising, especially among older populations, but about 10% of HF patients are under 50 years old, showing a concerning trend in younger adults.
- Factors leading to HF in younger individuals include genetic issues, premature vascular problems, metabolic stress, harmful reactions to certain substances, and myocarditis, which are often overlooked.
- Increasing risk factors like obesity, diabetes, and hypertension are also significantly contributing to the development of HF in younger patients, indicating a need for targeted preventive measures.
Background: Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described.
Objectives: We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression.
Article Synopsis
- Many young people who have sudden cardiac arrest (SCA) and die in the hospital don’t have a clear reason why it happened.
- Researchers looked at over 4,000 patients and found that a lot of tests weren't done to figure out the cause in those young patients.
- Doing more early tests can help doctors understand SCA better and could prevent similar cases in families.
Aims: To study the impact of genotype on the performance of the 2019 risk model for arrhythmogenic right ventricular cardiomyopathy (ARVC).
Methods And Results: The study cohort comprised 554 patients with a definite diagnosis of ARVC and no history of sustained ventricular arrhythmia (VA). During a median follow-up of 6.