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Jeffrey A. Towbin - One of the best experts on this subject based on the ideXlab platform.
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Left Ventricular Noncompaction in a Family with Lamin A/C Gene Mutation
Texas Heart Institute journal, 2015Co-Authors: John J. Parent, Jeffrey A. Towbin, John L. JefferiesAbstract:Left Ventricular Noncompaction is a rare type of cardiomyopathy, the genetics of which are poorly understood to date. Lamin A/C gene mutations have been associated with dilated cardiomyopathy and diseases of the conduction system, but rarely in left Ventricular Noncompaction cardiomyopathy. This report describes the cases of 4 family members with a lamin A/C gene mutation, 3 of whom had phenotypic expression of left Ventricular Noncompaction.
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Left Ventricular Noncompaction cardiomyopathy in Duchenne muscular dystrophy carriers
Journal of cardiology cases, 2014Co-Authors: John J. Parent, Jeffrey A. Towbin, Ryan A. Moore, Michael D. Taylor, John L. JefferiesAbstract:Duchenne and Becker muscular dystrophies are X-linked hereditary myopathies secondary to a dystrophinopathy resulting in progressive cardiomyopathy and heart failure. The most commonly associated cardiac involvements in these patients are dilated cardiomyopathy and conduction abnormalities; however, recent studies have shown a high prevalence of left Ventricular Noncompaction cardiomyopathy in patients with Duchenne muscular dystrophy. Furthermore, there is increasing awareness of cardiomyopathy in female heterozygous dystrophinopathy carriers. We report a case series of two dystrophinopathy carriers with the dilated form of left Ventricular Noncompaction cardiomyopathy, a newly identified association. .
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mortality and sudden death in pediatric left Ventricular Noncompaction in a tertiary referral center
Circulation, 2013Co-Authors: Samuel T. Brescia, John L. Jefferies, Joseph W. Rossano, Ricardo H. Pignatelli, Jack F. Price, Jamie A. Decker, Susan W. Denfield, Jeffrey W Dreyer, Obrian Smith, Jeffrey A. TowbinAbstract:Background—Left Ventricular Noncompaction is a cardiomyopathy characterized by excessive trabeculation of the left ventricle, progressive myocardial dysfunction, and early mortality. Left Ventricular Noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death. Methods and Results—We retrospectively reviewed all children diagnosed with left Ventricular Noncompaction at Texas Children’s Hospital from January 1990 to January 2009. Patients with congenital cardiac lesions were excluded. Two hundred forty-two children were diagnosed with isolated left Ventricular Noncompaction over the study period. Thirty-one (12.8%) died, and 13 (5.4%) were received a transplant. One hundred fifty (62%) presented with or developed cardiac dysfunction. The presence of cardiac dysfunction was strongly associated with mortality (hazard ratio, 11; P<0.001). ECG abnormalities were present in 87%, with Ventricular hypertrophy and repolarization abnormalities occurring most commonly. Re...
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Mortality and Sudden Death in Pediatric Left Ventricular Noncompaction in a Tertiary Referral Center
Circulation, 2013Co-Authors: Samuel T. Brescia, John L. Jefferies, Joseph W. Rossano, Ricardo H. Pignatelli, Jack F. Price, Jamie A. Decker, Susan W. Denfield, W. Jeffrey Dreyer, O’brian Smith, Jeffrey A. TowbinAbstract:Background—Left Ventricular Noncompaction is a cardiomyopathy characterized by excessive trabeculation of the left ventricle, progressive myocardial dysfunction, and early mortality. Left Ventricular Noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death. Methods and Results—We retrospectively reviewed all children diagnosed with left Ventricular Noncompaction at Texas Children’s Hospital from January 1990 to January 2009. Patients with congenital cardiac lesions were excluded. Two hundred forty-two children were diagnosed with isolated left Ventricular Noncompaction over the study period. Thirty-one (12.8%) died, and 13 (5.4%) were received a transplant. One hundred fifty (62%) presented with or developed cardiac dysfunction. The presence of cardiac dysfunction was strongly associated with mortality (hazard ratio, 11; P
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Left Ventricular Noncompaction: a new form of heart failure.
Heart failure clinics, 2010Co-Authors: Jeffrey A. TowbinAbstract:In this article the newly classified cardiomyopathy known as left Ventricular Noncompaction is discussed. This genetic inherited form of heart disease has substantial risk of heart failure, stroke, metabolic derangement, arrhythmias, and sudden cardiac death. The disorder seems to occur because of an arrest of the normal process of development, and the genes identified to date seem to encode for cytoskeletal or sarcomeric proteins. These features are outlined.
Samuel T. Brescia - One of the best experts on this subject based on the ideXlab platform.
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mortality and sudden death in pediatric left Ventricular Noncompaction in a tertiary referral center
Circulation, 2013Co-Authors: Samuel T. Brescia, John L. Jefferies, Joseph W. Rossano, Ricardo H. Pignatelli, Jack F. Price, Jamie A. Decker, Susan W. Denfield, Jeffrey W Dreyer, Obrian Smith, Jeffrey A. TowbinAbstract:Background—Left Ventricular Noncompaction is a cardiomyopathy characterized by excessive trabeculation of the left ventricle, progressive myocardial dysfunction, and early mortality. Left Ventricular Noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death. Methods and Results—We retrospectively reviewed all children diagnosed with left Ventricular Noncompaction at Texas Children’s Hospital from January 1990 to January 2009. Patients with congenital cardiac lesions were excluded. Two hundred forty-two children were diagnosed with isolated left Ventricular Noncompaction over the study period. Thirty-one (12.8%) died, and 13 (5.4%) were received a transplant. One hundred fifty (62%) presented with or developed cardiac dysfunction. The presence of cardiac dysfunction was strongly associated with mortality (hazard ratio, 11; P<0.001). ECG abnormalities were present in 87%, with Ventricular hypertrophy and repolarization abnormalities occurring most commonly. Re...
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Mortality and Sudden Death in Pediatric Left Ventricular Noncompaction in a Tertiary Referral Center
Circulation, 2013Co-Authors: Samuel T. Brescia, John L. Jefferies, Joseph W. Rossano, Ricardo H. Pignatelli, Jack F. Price, Jamie A. Decker, Susan W. Denfield, W. Jeffrey Dreyer, O’brian Smith, Jeffrey A. TowbinAbstract:Background—Left Ventricular Noncompaction is a cardiomyopathy characterized by excessive trabeculation of the left ventricle, progressive myocardial dysfunction, and early mortality. Left Ventricular Noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death. Methods and Results—We retrospectively reviewed all children diagnosed with left Ventricular Noncompaction at Texas Children’s Hospital from January 1990 to January 2009. Patients with congenital cardiac lesions were excluded. Two hundred forty-two children were diagnosed with isolated left Ventricular Noncompaction over the study period. Thirty-one (12.8%) died, and 13 (5.4%) were received a transplant. One hundred fifty (62%) presented with or developed cardiac dysfunction. The presence of cardiac dysfunction was strongly associated with mortality (hazard ratio, 11; P
Susan W. Denfield - One of the best experts on this subject based on the ideXlab platform.
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mortality and sudden death in pediatric left Ventricular Noncompaction in a tertiary referral center
Circulation, 2013Co-Authors: Samuel T. Brescia, John L. Jefferies, Joseph W. Rossano, Ricardo H. Pignatelli, Jack F. Price, Jamie A. Decker, Susan W. Denfield, Jeffrey W Dreyer, Obrian Smith, Jeffrey A. TowbinAbstract:Background—Left Ventricular Noncompaction is a cardiomyopathy characterized by excessive trabeculation of the left ventricle, progressive myocardial dysfunction, and early mortality. Left Ventricular Noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death. Methods and Results—We retrospectively reviewed all children diagnosed with left Ventricular Noncompaction at Texas Children’s Hospital from January 1990 to January 2009. Patients with congenital cardiac lesions were excluded. Two hundred forty-two children were diagnosed with isolated left Ventricular Noncompaction over the study period. Thirty-one (12.8%) died, and 13 (5.4%) were received a transplant. One hundred fifty (62%) presented with or developed cardiac dysfunction. The presence of cardiac dysfunction was strongly associated with mortality (hazard ratio, 11; P<0.001). ECG abnormalities were present in 87%, with Ventricular hypertrophy and repolarization abnormalities occurring most commonly. Re...
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Mortality and Sudden Death in Pediatric Left Ventricular Noncompaction in a Tertiary Referral Center
Circulation, 2013Co-Authors: Samuel T. Brescia, John L. Jefferies, Joseph W. Rossano, Ricardo H. Pignatelli, Jack F. Price, Jamie A. Decker, Susan W. Denfield, W. Jeffrey Dreyer, O’brian Smith, Jeffrey A. TowbinAbstract:Background—Left Ventricular Noncompaction is a cardiomyopathy characterized by excessive trabeculation of the left ventricle, progressive myocardial dysfunction, and early mortality. Left Ventricular Noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death. Methods and Results—We retrospectively reviewed all children diagnosed with left Ventricular Noncompaction at Texas Children’s Hospital from January 1990 to January 2009. Patients with congenital cardiac lesions were excluded. Two hundred forty-two children were diagnosed with isolated left Ventricular Noncompaction over the study period. Thirty-one (12.8%) died, and 13 (5.4%) were received a transplant. One hundred fifty (62%) presented with or developed cardiac dysfunction. The presence of cardiac dysfunction was strongly associated with mortality (hazard ratio, 11; P
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left Ventricular Noncompaction cardiomyopathy in association with trisomy 13
Pediatric Cardiology, 2005Co-Authors: Colin J Mcmahon, Ricardo H. Pignatelli, J.a. Towbin, Anthony C Chang, Wanda C Millerhance, Brian K Eble, Susan W. DenfieldAbstract:In recent years, left Ventricular Noncompaction (LVNC) has been recognized as a distinct form of cardiomyopathy with its own clinical presentation and natural history. More than 100 cases of LVNC have been described in children. Although LVNC has been described in association with metabolic disorders such as Fabry's disease or genetic disorders such as Roifman's syndrome, this case represents the first report of LVNC in a child with trisomy 13.
Ricardo H. Pignatelli - One of the best experts on this subject based on the ideXlab platform.
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mortality and sudden death in pediatric left Ventricular Noncompaction in a tertiary referral center
Circulation, 2013Co-Authors: Samuel T. Brescia, John L. Jefferies, Joseph W. Rossano, Ricardo H. Pignatelli, Jack F. Price, Jamie A. Decker, Susan W. Denfield, Jeffrey W Dreyer, Obrian Smith, Jeffrey A. TowbinAbstract:Background—Left Ventricular Noncompaction is a cardiomyopathy characterized by excessive trabeculation of the left ventricle, progressive myocardial dysfunction, and early mortality. Left Ventricular Noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death. Methods and Results—We retrospectively reviewed all children diagnosed with left Ventricular Noncompaction at Texas Children’s Hospital from January 1990 to January 2009. Patients with congenital cardiac lesions were excluded. Two hundred forty-two children were diagnosed with isolated left Ventricular Noncompaction over the study period. Thirty-one (12.8%) died, and 13 (5.4%) were received a transplant. One hundred fifty (62%) presented with or developed cardiac dysfunction. The presence of cardiac dysfunction was strongly associated with mortality (hazard ratio, 11; P<0.001). ECG abnormalities were present in 87%, with Ventricular hypertrophy and repolarization abnormalities occurring most commonly. Re...
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Mortality and Sudden Death in Pediatric Left Ventricular Noncompaction in a Tertiary Referral Center
Circulation, 2013Co-Authors: Samuel T. Brescia, John L. Jefferies, Joseph W. Rossano, Ricardo H. Pignatelli, Jack F. Price, Jamie A. Decker, Susan W. Denfield, W. Jeffrey Dreyer, O’brian Smith, Jeffrey A. TowbinAbstract:Background—Left Ventricular Noncompaction is a cardiomyopathy characterized by excessive trabeculation of the left ventricle, progressive myocardial dysfunction, and early mortality. Left Ventricular Noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death. Methods and Results—We retrospectively reviewed all children diagnosed with left Ventricular Noncompaction at Texas Children’s Hospital from January 1990 to January 2009. Patients with congenital cardiac lesions were excluded. Two hundred forty-two children were diagnosed with isolated left Ventricular Noncompaction over the study period. Thirty-one (12.8%) died, and 13 (5.4%) were received a transplant. One hundred fifty (62%) presented with or developed cardiac dysfunction. The presence of cardiac dysfunction was strongly associated with mortality (hazard ratio, 11; P
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left Ventricular Noncompaction cardiomyopathy in association with trisomy 13
Pediatric Cardiology, 2005Co-Authors: Colin J Mcmahon, Ricardo H. Pignatelli, J.a. Towbin, Anthony C Chang, Wanda C Millerhance, Brian K Eble, Susan W. DenfieldAbstract:In recent years, left Ventricular Noncompaction (LVNC) has been recognized as a distinct form of cardiomyopathy with its own clinical presentation and natural history. More than 100 cases of LVNC have been described in children. Although LVNC has been described in association with metabolic disorders such as Fabry's disease or genetic disorders such as Roifman's syndrome, this case represents the first report of LVNC in a child with trisomy 13.
John L. Jefferies - One of the best experts on this subject based on the ideXlab platform.
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Case report: Left Ventricular Noncompaction cardiomyopathy and RASopathies.
European journal of medical genetics, 2017Co-Authors: Juli Ann Sublett, Carlos E. Prada, John L. JefferiesAbstract:The following is a case report of 6 patients with Noonan syndrome (NS) and/or a related RASsopathy that also have evidence of left Ventricular Noncompaction cardiomyopathy (LVNC). Noonan syndrome,a type of RASopathy, is an autosomal dominant disorder that is typically associated with congenital heart defects and hypertrophic cardiomyopathy. There have been minimal reports of Noonan syndrome or other RASopathy and the association of LVNC. This report promulgates 6 nonrelated cases of Noonan syndrome or unspecified RASopathy and LVNC.
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Left Ventricular Noncompaction in a Family with Lamin A/C Gene Mutation
Texas Heart Institute journal, 2015Co-Authors: John J. Parent, Jeffrey A. Towbin, John L. JefferiesAbstract:Left Ventricular Noncompaction is a rare type of cardiomyopathy, the genetics of which are poorly understood to date. Lamin A/C gene mutations have been associated with dilated cardiomyopathy and diseases of the conduction system, but rarely in left Ventricular Noncompaction cardiomyopathy. This report describes the cases of 4 family members with a lamin A/C gene mutation, 3 of whom had phenotypic expression of left Ventricular Noncompaction.
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Left Ventricular Noncompaction cardiomyopathy in Duchenne muscular dystrophy carriers
Journal of cardiology cases, 2014Co-Authors: John J. Parent, Jeffrey A. Towbin, Ryan A. Moore, Michael D. Taylor, John L. JefferiesAbstract:Duchenne and Becker muscular dystrophies are X-linked hereditary myopathies secondary to a dystrophinopathy resulting in progressive cardiomyopathy and heart failure. The most commonly associated cardiac involvements in these patients are dilated cardiomyopathy and conduction abnormalities; however, recent studies have shown a high prevalence of left Ventricular Noncompaction cardiomyopathy in patients with Duchenne muscular dystrophy. Furthermore, there is increasing awareness of cardiomyopathy in female heterozygous dystrophinopathy carriers. We report a case series of two dystrophinopathy carriers with the dilated form of left Ventricular Noncompaction cardiomyopathy, a newly identified association. .
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mortality and sudden death in pediatric left Ventricular Noncompaction in a tertiary referral center
Circulation, 2013Co-Authors: Samuel T. Brescia, John L. Jefferies, Joseph W. Rossano, Ricardo H. Pignatelli, Jack F. Price, Jamie A. Decker, Susan W. Denfield, Jeffrey W Dreyer, Obrian Smith, Jeffrey A. TowbinAbstract:Background—Left Ventricular Noncompaction is a cardiomyopathy characterized by excessive trabeculation of the left ventricle, progressive myocardial dysfunction, and early mortality. Left Ventricular Noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death. Methods and Results—We retrospectively reviewed all children diagnosed with left Ventricular Noncompaction at Texas Children’s Hospital from January 1990 to January 2009. Patients with congenital cardiac lesions were excluded. Two hundred forty-two children were diagnosed with isolated left Ventricular Noncompaction over the study period. Thirty-one (12.8%) died, and 13 (5.4%) were received a transplant. One hundred fifty (62%) presented with or developed cardiac dysfunction. The presence of cardiac dysfunction was strongly associated with mortality (hazard ratio, 11; P<0.001). ECG abnormalities were present in 87%, with Ventricular hypertrophy and repolarization abnormalities occurring most commonly. Re...
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Mortality and Sudden Death in Pediatric Left Ventricular Noncompaction in a Tertiary Referral Center
Circulation, 2013Co-Authors: Samuel T. Brescia, John L. Jefferies, Joseph W. Rossano, Ricardo H. Pignatelli, Jack F. Price, Jamie A. Decker, Susan W. Denfield, W. Jeffrey Dreyer, O’brian Smith, Jeffrey A. TowbinAbstract:Background—Left Ventricular Noncompaction is a cardiomyopathy characterized by excessive trabeculation of the left ventricle, progressive myocardial dysfunction, and early mortality. Left Ventricular Noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death. Methods and Results—We retrospectively reviewed all children diagnosed with left Ventricular Noncompaction at Texas Children’s Hospital from January 1990 to January 2009. Patients with congenital cardiac lesions were excluded. Two hundred forty-two children were diagnosed with isolated left Ventricular Noncompaction over the study period. Thirty-one (12.8%) died, and 13 (5.4%) were received a transplant. One hundred fifty (62%) presented with or developed cardiac dysfunction. The presence of cardiac dysfunction was strongly associated with mortality (hazard ratio, 11; P
