New Technology Saves Those With Genetic Heart Disease

BOSTON (CBS) – We’ve all heard the tragic tales of teens and young adults collapsing while playing sports from a rare heart condition. Now, a father-son team in Boston has developed a strategy to save those patients most at risk. “It was devastating.”  Kevin Whelan recalled the moment he learned his oldest brother, Kyle, collapsed and died. He was only 26 years old. Kyle had hypertrophic cardiomyopathy, or HCM, a genetic disease of the heart and the most common cause of sudden death in otherwise healthy young people. But Kyle wasn’t the only one in the family with it.  His father and all three sons had HCM, including Kevin. “After Kyle died, I was wondering when was my event,” remembered Dr. Barry Maron checks Kyle Whelan. (WBZ-TV) Searching for answers, the Whelan family found doctors Barry and Martin Maron, a father-son team of cardiologists at Tufts Medical Center in Boston who had developed the “sudden cardiac death prevention strategy.” “The best way to attack this problem of sudden death is to pick out the patients who are most likely to have sudden death and use the defibrillator selectively in those patients,” explained Dr. Barry Maron. Using a patient’s history, physical exam and special imaging, they can now determine with near certainty who needs a defibrillator and who does not. “We really have been able to reduce sudden death in this disease to almost zero,” said Dr. Mar...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Boston News Health Healthwatch Syndicated Local Dr. Mallika Marshall Hypertrophic Cardiomyopathy Source Type: news

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M, Rosengren A Abstract BACKGROUND: Modifiable lifestyle factors in relation to risk for cardiomyopathy, a common and increasing cause of heart failure in the young, have not been widely studied. We sought to investigate a potential link between obesity, a recognized predictor of early heart failure, in adolescence and being diagnosed with cardiomyopathy in adulthood. METHODS: This was a nationwide register-based prospective cohort study of 1 668 893 adolescent men (mean age, 18.3 years; SD, 0.7 years) who enlisted for compulsory military service from 1969 to 2005. At baseline, body mass index (BMI), blood pr...
Source: Circulation - Category: Cardiology Authors: Tags: Circulation Source Type: research
BOSTON (CBS) – We’ve all heard the tragic tales of teens and young adults collapsing while playing sports from a rare heart condition. Now, a father-son team in Boston has developed a strategy to save those patients most at risk. “It was devastating.”  Kevin Whelan recalled the moment he learned his oldest brother, Kyle, collapsed and died. He was only 26 years old. Kyle had hypertrophic cardiomyopathy, or HCM, a genetic disease of the heart and the most common cause of sudden death in otherwise healthy young people. But Kyle wasn’t the only one in the family with it.  His father and...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Boston News Health Healthwatch Syndicated Local Dr. Mallika Marshall Hypertrophic Cardiomyopathy Source Type: news
Conclusions: 11C-PIB PET/MR may be valuable in the noninvasive diagnosis of CA. Further study with a larger cohort of patients would be needed to confirm it.
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Cardiovascular YIA Symposium Source Type: research
We report our use of angiotensin II infusion for vasoplegic shock in a combined heart and liver transplantation recipient with hypertrophic cardiomyopathy and systolic anterior motion of the mitral leaflet (SAM). A 34-year-old woman (60 kg) with complex congenital heart disease, failing Fontan physiology dependent on pharmacologic inotropy, and cardiac cirrhosis underwent combined orthotopic heart and deceased-donor liver transplantation. The cause of death in the donor was aneurysmal subarachnoid hemorrhage.
Source: Journal of Cardiothoracic and Vascular Anesthesia - Category: Anesthesiology Authors: Tags: Letter to the Editor Source Type: research
Abstract BACKGROUND: Chronic hepatitis C virus (HCV) infection is associated with higher risk of cardiovascular events than chronic hepatitis B virus (HBV). We aimed to investigate whether there is higher risk of arrhythmia in HCV infection. METHODS: Electronic medical records from National Health Institute Research Database during 2000-2012 were retrieved for patients with HBV or HCV. Patients with missing information, aged
Source: Journal of Cardiology - Category: Cardiology Authors: Tags: J Cardiol Source Type: research
Noonan syndrome (NS), and autosomal dominant disorder, is the second most common genetic syndrome associated with congenital heart disease. Over 80% of patients with NS have cardiac involvement and the most common lesions are pulmonary stenosis, atrial septal defects (ASD), and hypertrophic cardiomyopathy (HCM). There clearly is a dearth of data with respect to outcomes after heart surgery for NS patients. The authors from the Mayo Clinic should be congratulated for putting together this valuable information spanning 16 years and including 29 patients.
Source: Seminars in Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Tags: CONGENITAL – Editorial Commentary Source Type: research
Discussion Barth syndrome is characterized by a dilated cardiomyopathy, proximal skeletal muscle weakness, neutropenia and short stature that usually presents at birth or soon after. It is a rare X-linked recessive disease process caused by mutations in the TAZ gene. The TAZ gene codes for tafazzin which alters cardiolipin in mitochondria. Characteristic facies can be seen especially in infancy including a tall and broad forehead, prominent chin and full cheeks, larger ears, and deep-set eyes. Most patients present at birth or soon afterwards but some may not until later in life. Life expectancy is reduced with many childr...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
The protein kinase C (PKC) and closely related protein kinase N (PKN) families of serine/threonine protein kinases play crucial cellular roles. Both kinases belong to the AGC subfamily of protein kinases that also include the cAMP dependent protein kinase (PKA), protein kinase B (PKB/AKT), protein kinase G (PKG) and the ribosomal protein S6 kinase (S6K). Involvement of PKC family members in heart disease has been well documented over the years, as their activity and levels are mis-regulated in several pathological heart conditions, such as ischemia, diabetic cardiomyopathy, as well as hypertrophic or dilated cardiomyopathy.
Source: Journal of Molecular and Cellular Cardiology - Category: Cytology Authors: Tags: Review article Source Type: research
Abstract Genetic cardiomyopathies, a group of cardiovascular disorders based on ventricular morphology and function, are among the leading causes of morbidity and mortality worldwide. Such genetically driven forms of hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathies are chronic, debilitating diseases that result from biomechanical defects in cardiac muscle contraction and frequently progress to heart failure (HF). Locus and allelic heterogeneity, as well as clinical variability combined with genetic and phenotypic overlap between different cardiomyopathies, have challenged proper clinical p...
Source: Pflugers Archiv : European Journal of Physiology - Category: Physiology Authors: Tags: Pflugers Arch Source Type: research
Abstract Friedreich's ataxia (FRDA), which occurs in 1/50000 live births, is the most prevalent inherited neuromuscular disorder. Nearly all FRDA patients develop cardiomyopathy at some point in their lives. The clinical manifestations of FRDA include ataxia of the limbs and trunk, dysarthria, diabetes mellitus, and cardiac diseases. However, the broad clinical spectrum makes FRDA difficult to identify. The diagnosis of FRDA is based on the presence of suspicious clinical factors, the use of the Harding criteria and, more recently, the use of genetic testing for identifying the expansion of a triplet nucleotide se...
Source: World Journal of Cardiology - Category: Cardiology Authors: Tags: World J Cardiol Source Type: research
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