Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.

Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1. Clin Genet. 2016 Feb 9; Authors: Román IS, Navarro M, Martínez F, Albert L, Polo L, Guardiola J, García-Molina E, Muñoz-Esparza C, López-Ayala JM, Molina MS, Gimeno JR Abstract Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in FHL1 gene (p.Cys255Ser). Penetrance was 44%, 100% for males and 18% for females. The heart was the main organ involved. Affected adult males had mild hypertrophy, systolic dysfunction and restriction with non-dilated ventricles. Carriers had significant QTc prolongation. The proband presented with resuscitated cardiac arrest. There were 2 transplants. Pathological study of explanted heart demonstrated fibrofatty replacement and scarring consistent with arrhythmogenic cardiomyopathy and prominent left ventricular trabeculations. Myopathic involvement was evident in all males. Females had no significant neuromuscular disease. Mutations in FHL1 cause unclassifiable cardiomyopathy with coexisting EDMD. Prognosis is poor and systolic impairment and arrhythmias are frequent. Thrombopenia and raised creatine phosphokinase should raise suspicion of an FHL-1 disorder in X-linked cardiomyopathy. PMID: 26857240 [PubMed - as su...
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research

Related Links:

We report the case of a 44 year old patient with Steinert disease who showed an early onset ventricular dysfunction refractory to optimal medical and cardiac resincronization therapy, and underwent to successful heart transplantation. At our knowledge, this is the second heart transplantation performed in a patient affected by Steinert disease after the one reported by Conraads et al in 2002. PMID: 30944906 [PubMed - in process]
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
Conclusions: This study demonstrates that patient-specific hiPSC cardiomyocytes can recapitulate some phenotypic properties of LGMD2I with DCM and provide a platform for studies on the cardiac events in LGMD.
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Arrhythmias, Sudden Cardiac Death, Stem Cells, Translational Studies, Cardiomyopathy Original Articles Source Type: research
We describe a 35-year-old female in whom a novel sporadic heterozygous mutation c.1001_1003delGCC (p.Ser334del) of the LMNA gene was found. The patient presented with overlapping syndrome of heart failure secondary to dilated cardiomyopathy, limb-girdle dystrophy and partial lipodystrophy. Endomyocardial biopsy revealed strong up-regulation of HLA classes I and II antigens on microvessels and induction of the class I antigens on cardiomyocytes. On muscle biopsy, a wide range of fiber sizes and small clusters of inflammatory infiltrations were found. In the rapid progression of heart failure with arrhythmias or conduction d...
Source: J Appl Genet - Category: Genetics & Stem Cells Authors: Tags: J Appl Genet Source Type: research
Lamin A and C are nuclear filament proteins encoded by LMNA gene. Mutations in LMNA gene cause many congenital diseases known as laminopathies, including Emery-Dreifuss muscular dystrophy, Hutchinson-Gilford progeria syndrome and familial dilated cardiomyopathy (DCM) with conduction disease. A missense mutation (N195K) in the A-type lamins results in familial DCM and sudden arrhythmic death.
Source: Heart Rhythm - Category: Cardiology Authors: Source Type: research
The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic disorders characterized by progressive proximal weakness with dystrophic changes on muscle biopsy [1,2]. Several LGMD genes have been associated with cardiomyopathy and/or arrhythmias [3–5], whereby providing a genetic diagnosis for LGMD patients is crucial for institution of appropriate cardiac surveillance and preventing complications. Mutations in torsinA-interacting protein 1 (TOR1AIP1) gene have previously been reported in two families: a consanguineous Turkish family with recessive LGMD, mild dilated cardiomyopathy, restrictive lu...
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Case report Source Type: research
De-Ann M Pillers,1 Nicholas H Von Bergen21Division of Neonatology and Newborn Medicine, 2Division of Cardiology, Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USAAbstract: Emery–Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy. Although there is a defining group of clinical findings, the proteins responsible and their underlying gene defects leading to EDMD are varied. A common aspect of the gene defects is their involvement in, or wit...
Source: Application of Clinical Genetics - Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
We described the frequency of significant Holter findings in DMD, the relationship between cardiac function and arrhythmia burden, and the impact of these findings on clinical management. Methods and Results A retrospective review was done of patients with DMD who received a Holter from 2010 to 2014. Clinical and arrhythmic outcomes were analyzed. Patients were classified based on left ventricular ejection fraction (LVEF): ≥55%, 35% to 54% and
Source: JAHA:Journal of the American Heart Association - Category: Cardiology Authors: Tags: Arrhythmias, Heart Failure, Diagnostic Testing, Echocardiography, Magnetic Resonance Imaging (MRI) Arrhythmia and Electrophysiology Source Type: research
Conclusions Our studies suggest that downregulation of miR-448-3p leads to the increase in the expression of Ncf1 gene and p47phox protein, as well as to the substantial increase in NOX2-derived ROS production. Cellular oxidative stress subsequently triggers events that finally culminate in cardiac tissue damage and development of cardiomyopathy.
Source: Cardiovascular Research - Category: Cardiology Authors: Tags: Cardiac biology and remodelling Source Type: research
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, characterised by progressive skeletal muscle weakness, loss of ambulation and death secondary to cardiac or respiratory failure. End-stage dilated cardiomyopathy is a frequent finding in DMD patients, they are rarely candidates for cardiac transplantation. Arrhythmias and conduction disease occur after the development of the dilated cardiomyopathy. Patients are considered for pacemakers or implantable cardioverter-defibrillators on the basis of guidelines used for non-ischaemic cardiomyopathies.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Introduction The muscular dystrophies (MD) are a group of genetically heterogeneous muscle diseases marked by progressive wasting and weakness of the skeletal and cardiac muscles1. Duchenne muscular dystrophy (DMD) is the most common and most severe form. It is an X-linked disorder affecting 1 in 5000 live male births2,3. DMD is caused by mutations in the DMD gene, which encodes the muscle fiber membrane protein dystrophin. Deficiency or complete absence of dystrophin makes muscle fibers sensitive to damage upon contraction, leading to plasma membrane leakage and muscle fiber degeneration, which eventually leads to progres...
Source: PLOS Currents Muscular Dystrophy - Category: Neurology Authors: Source Type: research
More News: Arrhythmia | Cardiology | Cardiomyopathy | Dilated Cardiomyopathy | Genetics | Heart | Heart Transplant | Muscular Dystrophy | Neurology | Reflex Sympathetic Dystrophy | Study | Transplants