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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. In case of a negative result and according to the clinical profile, 17-80 gene panels of were used., Results: A 748 adult cohort was examined: 68.9 % male, 54.6 ± 18.1 years, 27.5 % with a HCM family history, maximal wall thickness 19.1 ± 4.8 mm. Pathogenic or likely pathogenic variants were identified in 296 (39.6 %) patients, localized 1) in sarcomeric genes in 233, most frequently MYBPC3 (150) and MYH7 (42), with 24 identified only by large panels, with multiple variants in 8 patients and 2) in non-sarcomeric genes in 63, identified only with large panels in 26, predominantly TTR (26) and GLA(9), representing 8.8 % and 3.0 % of positive studies, respectively. Performance was 57.1 % before 40 years and 68.6 % in case of FH (vs otherwise 28.7 % and 26.1 % respectively, p < 0.001). In patients with a negative study, 148 had variants of unknown significance and 95 had senile or AL amyloidosis., Conclusions: Systematic genetic screening with a limited panel showed good performance, with diagnosis of Fabry disease (∼1 %) and hereditary TTR amyloidosis (∼3.5 %). Larger targeted panels were conclusive in 35.3 % of patients, of which 12 % had a negative initial approach., Competing Interests: Declaration of competing interest Pr. Hagege has served as an advisor to Alnylam, Amicus, Bristol Myers Squibb, Cytokinetics, Gilead, Myokardia, Pfizer, Sanofi Genzyme, Tenaya., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Background/objectives: Muscular dystrophies are genetic muscle disorders, in which heart involvement and chronic respiratory impairment affect survival. Cardiac conduction disturbances require implantable cardiac pacemaker. Implantable defibrillators may also be necessary to prevent cardiac sudden death. The safety and risk of cardiac electronic devices' implantation are not known in patients with muscular dystrophy. We aimed to assess the risks related to cardiac implantable electronic devices (CIED) in muscular dystrophy patients ventilated by tracheostomy., Methods: We reviewed all medical charts of neuromuscular patients and identified all CIED implantations of pacemakers (PM) or defibrillators (ICD) in patients ventilated using tracheostomy., Results: Twelve device implantations were included, performed in 9 patients (5 DMD, 1 Becker muscular dystrophy and 3 DM1). Mean age was 39.9years±13.0. All patients were wheel-chair bound and tracheotomized. Six pacemakers (PM) and 6 cardiac resynchronization (CRT) devices, including 2 defibrillators (CRT-D) were implanted. Following device implantation, two patients had a pneumothorax and one died from severe heart failure after an unsuccessful CRT implant attempt. Follow-up lasted up to 8years (mean 2.6±2.9years), during which one patient presented a PM pocket infection, requiring PM explantation and epicardial reimplantation., Conclusion: We found a high prevalence of early complications (16.6% pneumothorax) after CIED implantation and an acceptable long-term infectious risk (8.3%). These results highlight the feasibility of CIED implantation in tracheotomized patients with muscular dystrophies and the need for a particular caution in the management of these patients during invasive procedures. ClinicalTrials.gov (identifier: NCT02501083)., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

There are a number of hereditary and non-hereditary central nervous system (CNS) disorders, which directly or indirectly affect the heart (brain-heart disorders). The most well-known of these CNS disorders are epilepsy, stroke, infectious or immunological encephalitis/meningitis, migraine, and traumatic brain injury. In addition, a number of hereditary and non-hereditary neurodegenerative disorders may impair cardiac functions. Affection of the heart may manifest not only as arrhythmias, myocardial infarction, autonomic impairment, systolic dysfunction/heart failure, arterial hypertension, or pulmonary hypertension, but also as stress cardiomyopathy (Takotsubo syndrome, TTS). CNS disease triggering TTS includes subarachnoid bleeding, epilepsy, ischemic stroke, intracerebral bleeding, migraine, encephalitis, traumatic brain injury, PRES syndrome, or ALS. Usually, TTS is acutely precipitated by stress triggered by various different events. TTS is one of the cardiac abnormalities most frequently induced by CNS disorders. Appropriate management of TTS from CNS disorders is essential to improve the outcome of affected patients., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)

Background: Recently, concerns have been raised about a possible lack of sensitivity of biomarkers to detect left ventricular (LV) dysfunction in patients with myopathies. We examined the ability of the N-terminal brain natriuretic peptide (NT-proBNP) to detect LV or right ventricular (RV) dysfunction in patients with lamin A/C (LMNA) gene mutations., Methods: We prospectively measured plasma NT-proBNP in consecutive patients with documented LMNA mutations and age-sex matched controls. All patients underwent standard echocardiography implemented by pulsed tissue-Doppler echocardiography (TDE)., Results: Twenty-three patients were included (10 males, mean age 39.2 ± 18.9 years);10 had previous atrial arrhythmias, 8 had been implanted with cardioverter defibrillator for primary prevention of sudden death, 5 patients were of NYHA class II and 18 of NHYA class I. Sinus rhythm was recorded in all. NT-proBNP was increased in LMNA patients versus controls (123 ± 229 versus 26 ± 78 pg/ml, p=0.0004); 7 patients had depressed LV and/or RV contractility. Patients with reduced LV or RV contractility had increased mean NT-proBNP (341 ± 1032 pg/ml versus 80 ± 79 pg/ml in patients with normal myocardial contractility, p=0.004). Receiver-operating-characteristics analysis shows that NT-proBNP reliably detected depressed contractility (area under the curve 0.889 [0.697-1.000]). Sensitivity and specificity were 88% and 83% respectively, applying manufacturer's recommended cut-off concentration of 125 pg/ml., Conclusion: NT-proBNP reliably detected the presence of reduced LV/RV contractility in LMNA patients., (Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.)