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The Non-Ischemic HEART FAILURE Patient
Published in Andreas P. Kalogeropoulos, Hal A. Skopicki, Javed Butler, Heart Failure, 2023
Maria-Anna Bazmpani, Theodoros D. Karamitsos
A standard electrocardiogram (ECG) may suggest specific myocardial disease or morphological variants. In early stages of cardiomyopathies, ECG abnormalities often precede manifestation of symptoms. In patients with HF, apart from pointing towards a specific diagnosis, ECG findings provide indications for interventions, e.g., cardiac resynchronization therapy (CRT) device implantation if QRS prolongation is present. Patients with HCM may have normal 12-lead ECG or LV hypertrophy, ST and T-wave abnormalities as well as pathological Q-waves.30 Short P-R interval/preexcitation is a characteristic of storage diseases (Pompe, Danon, PRKAG2) and mitochondrial disorders. Atrioventricular block may be found in mitochondrial diseases, Anderson-Fabry, amyloidosis, and Danon disease,31 and may be present in desmin-related RCM. In patients with DCM phenotype, atrioventricular block may be suggestive of laminopathy, Emery Dreifuss 1, acute myocarditis (Trypanosoma cruzi, diphtheria, and Lyme disease in particular), sarcoidosis, myotonic dystrophy, and desminopathy. Extreme LV hypertrophy (Sokolow >50) should raise suspicion of storage diseases (Pompe or Danon), while extreme superior QRS axis is a typical finding of Noonan syndrome. ECG findings in ARVC/D with biventricular involvement include low QRS voltage, atypical RBBB, inverted T-waves in inferolateral leads, and epsilon waves.32 Low QRS voltage despite increased LV wall thickness is found in amyloidosis. Pseudo-infarction pattern despite non-obstructive coronary arteries may be present in HCM or amyloidosis.33 Posterior or posterolateral infarct pattern in DCM patients hints at dystrophin-related diseases such as Duchenne's or Becker's muscular dystrophy.34 Persistent tachyarrhythmia may be suggestive of tachycardia-induced cardiomyopathy. Diagnosis is confirmed if LV systolic dysfunction resides with rate control.
The clinical and molecular spectrum of autosomal dominant limb-girdle muscular dystrophies focusing on transportinopathy
Published in Expert Opinion on Orphan Drugs, 2019
Corrado Angelini, Valentina Pegoraro, Giovanna Cenacchi
The nucleus imports and exports several proteins and messengers, which are important for myofibrillar assembly. The recognition of various nuclear envelopathies such as laminopathy [44] and emerinopathy [45] is well known. Transportin-3 might be important in muscle for multiple cellular activities during development and in regeneration. Transportin-3 is involved in transporting proteins involved in mRNA metabolism across the nuclear membrane, recognizing a certain motif on this proteins and appears to connect the cytoskeleton to the nuclear envelope proteins through its interaction in the Nuclear Pore Complex. The immunohistochemical studies performed in muscle biopsies showed accumulation of myofibrillar proteins such as desmin and myotilin, that caused an autophagic reaction revealed by the formation of autophagosomes. MURF-1 was found to be up-regulated, MuRF1 has been found at the Z-lines and at the M-line of the sarcomere, and in the nucleus. Increased expression of MuRF1, an atrophy-inducing stressor is thought to be responsible for the shift in protein balance from synthesis to degradation, thus inducing muscle mass loss [46]. The activation of the specific signaling pathway can explain the increased atrophy of myofibers observed in two successive muscle biopsies, associated with the progression of the disorder [29].
Atrial fibrillation in young patients
Published in Expert Review of Cardiovascular Therapy, 2018
Jean-Baptiste Gourraud, Paul Khairy, Sylvia Abadir, Rafik Tadros, Julia Cadrin-Tourigny, Laurent Macle, Katia Dyrda, Blandine Mondesert, Marc Dubuc, Peter G. Guerra, Bernard Thibault, Denis Roy, Mario Talajic, Lena Rivard
Furthermore, in this young population, AF could reveal a genetic disease with direct consequences on AF management and medication since the use of antiarrhythmic class I in Brugada syndrome and the use of antiarrhythmic class III in Long QT syndrome could trigger malignant ventricular arrhythmias. Other genetic diseases like short QT and anterior repolarization syndrome have also been associated with an increased risk of AF (present in up to 30% of patients). AF could also be the initial presentation of a cardiomyopathy, in particular laminopathy. A long-term follow-up is recommended.
CERKL mutation causing retinitis pigmentosa(RP) in Indian population – a genotype and phenotype correlation study
Published in Ophthalmic Genetics, 2020
Parveen Sen, Puja Maitra, Srikrupa Natarajan, Srivatsan Sripriya, Sinnakaruppan Mathavan, Muna Bhende, Pradeep T Manchegowda
Previous reports have described CERKL related diseases in three categories. (15) The first is the Cone-Rod dystrophy affecting younger age group manifesting early macular involvement. Secondly, maculopathy, where early macular changes are noted before vision drop. And thirdly, laminopathy and inner retinal dysfunction. (15)