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HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS)…
- M. Ackerman, S. Priori, +18 authors D. Zipes
- Europace : European pacing, arrhythmias, and…
- 1 August 2011
This international consensus statement provides the state of genetic testing for the channelopathies and cardiomyopathies. It summarizes the opinion of the international writing group members based… Expand
Truncations of titin causing dilated cardiomyopathy.
- D. Herman, L. Lam, +26 authors C. Seidman
- The New England journal of medicine
- 15 February 2012
BACKGROUND Dilated cardiomyopathy and hypertrophic cardiomyopathy arise from mutations in many genes. TTN, the gene encoding the sarcomere protein titin, has been insufficiently analyzed for… Expand
Recommendations and Considerations Related to Preparticipation Screening for Cardiovascular Abnormalities in Competitive Athletes: 2007 Update: A Scientific Statement From the American Heart…
Sudden deaths of young competitive athletes are tragic events that continue to have a considerable impact on the lay and medical communities.1–17 These deaths are usually due to a variety of… Expand
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Noonan and LEOPARD syndromes are developmental disorders with overlapping features, including cardiac abnormalities, short stature and facial dysmorphia. Increased RAS signaling owing to PTPN11, SOS1… Expand
Mutant Caveolin-3 Induces Persistent Late Sodium Current and Is Associated With Long-QT Syndrome
Background— Congenital long-QT syndrome (LQTS) is a primary arrhythmogenic syndrome stemming from perturbed cardiac repolarization. LQTS, which affects ≈1 in 3000 persons, is 1 of the most common… Expand
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
BACKGROUND Brugada syndrome (BrS) is a common heritable channelopathy. Mutations in the SCN5A-encoded sodium channel (BrS1) culminate in the most common genotype. OBJECTIVE This study sought to… Expand
J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge.
J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge Charles Antzelevitch, PhD, FHRS, Gan-Xin Yan, MD, PhD, Michael J. Ackerman, MD, PhD, Martin Borggrefe, MD,… Expand
Electrocardiographic interpretation in athletes: the ‘Seattle Criteria’
- J. Drezner, M. Ackerman, +22 authors M. Wilson
- British Journal of Sports Medicine
- 9 January 2013
Sudden cardiac death (SCD) is the leading cause of death in athletes during sport. Whether obtained for screening or diagnostic purposes, an ECG increases the ability to detect underlying… Expand
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
BACKGROUND Long QT syndrome (LQTS) is a potentially lethal, highly treatable cardiac channelopathy for which genetic testing has matured from discovery to translation and now clinical implementation.… Expand
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.
A group of relatively uncommon but important genetic cardiovascular diseases (GCVDs) are associated with increased risk for sudden cardiac death during exercise, including hypertrophic… Expand