Acknowledgements & References

We are fortunate to have various experts that have contributed information to this website to educate and support individuals and their family members who may be at risk for inherited heart disease. Please see below for a list of our contributors and references.

Contributors

  • Richard J. Czosek, MD
    Pediatric Electrophysiologist
    Cincinnati Children’s Hospital Medical Center
  • Lynn A. Johnson, MD
    Director of Family Support
    SADS Foundation
  • Alice Lara
    President and CEO
    SADS Foundation
  • Erin Miller, MS, CGC
    Certified Genetic Counselor
    Cincinnati Children’s Hospital Medical Center
  • Brittney Murray, MS, CGC
    Certified Genetic Counselor
    The Johns Hopkins Hospital
  • Mitchel Pariani, MS, CGC
    Certified Genetic Counselor
    Stanford Center for Inherited Cardiovascular Disease, Stanford Hospital
  • Christina Rigelsky, MS, LGC
    Certified Genetic Counselor
    Genomic Medicine Institute, Cleveland Clinic
  • Lisa Salberg
    Founder and CEO
    Hypertrophic Cardiomyopathy Association
  • Kavita Sharma, MD
    Clinical Director of the Lipid Management Clinics
    The Ohio State University Wexner Medical Center
  • David S. Spar, MD
    Pediatric Electrophysiologist
    Cincinnati Children’s Hospital Medical Center
  • Amy Sturm, MS, LGC
    Certified Genetic Counselor
    The Ohio State University Wexner Medical Center
  • Harikrishna Tandri, MBBS, MD
    Co-Director of the Arrhythmogenic Right Ventricular Dysplasia (ARVD) Program 
    The Johns Hopkins Hospital
  • Kenneth Zahka, MD
    Pediatric Cardiologist
    Cleveland Clinic
  • Melissa Dempsey, MS, CGC
    Certified Genetic Counselor
    Product Manager Cardiology, Ambry Genetics
  • Deepti Babu, MS, CGC
    Certified Genetic Counselor
    Clinical Content Editor, Ambry Genetics
  • Jackie Connor
    Marketing Clinical Coordinator, Ambry Genetics
  • Devon Thrush, MS, CGC
    Certified Genetic Counselor, Launch Team, Ambry Genetics
  • Amanda Bergner, MS, CGC
    Certified Genetic Counselor
    Senior Product Manager Neurology, Ambry Genetics
  • Jessica Burgess
    Senior Graphic Designer, Ambry Genetics
  • Michael Squier
    Creative Director, Ambry Genetics
  • Ted Hanik
    Post Production Supervisor, Ambry Genetics
  • Caleb Remington
    Lead Software Developer, Ambry Genetics
  • Joe Bartfay
    Senior Software Engineer, Ambry Genetics
  • Jamie L'Heureux, MS, CGC
    Certified Genetic Counselor
    Progeny Genetics
  • Michael Brammer
    CEO, Progeny Genetics
  • Humberto Huerta
    Director of Marketing, Ambry Genetics
  • Gretchen Enright
    Director of Compliance, Ambry Genetics
  • Melissa Yoon
    General Counsel, Ambry Genetics
  • Charles Dunlop
    CEO, Ambry Genetics

Complete References by Topic

Arrhythmogenic Right Ventricular Dyplasia/Cardiomyopathy (ARVD/ARVC)

  1. McNally E, MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. 2005 Apr 18 [Updated 2014 Jan 9]. In: Pagon RA, et al., editors. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  2. Basso C, et al. Cardiovascular causes of sudden death in young individuals including athletes. Cardiol Rev. 1999 May-Jun;7(3):127-35.
  3. Centers for Disease Control. “State-Specific Mortality from Sudden Cardiac Death – United States, 1999.” MMWR™ Weekly. February 15, 2002/51(06); 123-6. Available from http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5106a3.htm
  4. James CA, et al. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol. 2013 Oct 1;62(14):1290-7.
  5. Sawant AC, et al. Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations. J Am Heart Assoc. 2014 Dec;3(6):e001471.
  6. Marcus FI, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Circulation. 2010 Apr 6;121(13):1533-41.
  7. Bhonsale A, et al. Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. Circ Arrhythm Electrophysiol. 2013 Jun;6(3):569-78.  

Aortic Aneurysm/Dissections and Related Disorders

  1. Dietz HC. Marfan Syndrome. 2001 Apr 18 [Updated 2014 Jun 12]. In: Pagon RA, et al., editors. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  2. Milewicz DM and Regalado E. Thoracic Aortic Aneurysms and Aortic Dissections. 2003 Feb 13 [Updated 2012 Jan 12]. In: Pagon RA, et al., editors. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  3. Pape LA et al. Aortic diameter ≥ 5.5 cm is not a good predictor of type A aortic dissection. Observations from the International Registry of Acute Aortic Dissection (IRAD). Circulation. 2007 Sep 4;116(10):1120-7.
  4. Booher AM and Eagle KA. Diagnosis and management issues in thoracic aortic aneurysm. Am Heart J. 2011 Jul;162(1):38-46.e1.
  5. Hoyert DL, et al. Deaths: final data for 1999. Natl Vital Stat Rep. 2001;49(8):1-113.
  6. Biddinger A, et al. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg. 1997 Mar;25(3):506-11.
  7. Coady MA, et al. Familial patterns of thoracic aortic aneurysms. Arch Surg. 1999 Apr;134(4):361-7.
  8. Albornoz G, et al. Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg. 2006 Oct;82(4):1400-5.

Brugada Syndrome (BrS)

  1. Brugada R, Campuzano O, Brugada P, et al. Brugada Syndrome. 2005 Mar 31 [Updated 2014 Apr 10]. In: Pagon RA, et al., editors. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

  1. Napolitano C, et al. Catecholaminergic Polymorphic Ventricular Tachycardia. 2004 Oct 14 [Updated 2014 Mar 6]. In: Pagon RA, et al., editors. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.  
  2. Bauce B, et al. Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. J Am Coll Cardiol. 2002 Jul 17;40(2):341-349.
  3. Leenhardt A, et al. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation. 1995 Mar;91(5):1512-1519.
  4. Swan H, et al. Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol. 1999 Dec;34(7):2035-42.
  5. Priori SG, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 Jul 2;106(1):69-74.

Dilated Cardiomyopathy (DCM)

  1. Hershberger RE and Morales A. Dilated Cardiomyopathy Overview. 2007 Jul 27 [Updated 2015 Sep 24]. In: Pagon RA, et al., editors. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 
  2. Brodt C et al. Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy. J Card Fail. 2013. Apr;19(4):233-9.
  3. Grünig E, et al. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol. 1998 Jan;31(1):186-94.
  4. Hudson L, et al. Family history of dilated cardiomyopathy among patients with heart failure from the HF-ACTION genetic ancillary study. Clin Transl Sci. 2013 Jun;6(3):179-83.
  5. Hershberger RE, et al. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013 Sep;10(9):531–47.

Familial Hypercholesterolemia (FH)

  1. Hopkins PN. Familial hypercholesterolemia – improving treatment and meeting guidelines. Int J Cardiol. 2003 May;89(1):13-23.
  2. Goldberg AC, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011 Jun; 5(3 Suppl):S1-8.
  3. Austin M, et al. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol. 2004 Sep 1;160(5):407-20.
  1. Nordestgaard BG, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society. Eur Heart J. 2013 Dec;34(45):3478-90a.
  2. Youngblom E, Knowles JW. Familial Hypercholesterolemia. 2014 Jan 2. In: Pagon RA, et al., editors. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 

General Cardiogenetics

  1. Ackerman MJ, et al. HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies. Heart Rhythm. 2011 Aug;8(8):1308-39

Hypertrophic Cardiomyopathy (HCM)

  1. Cirino AL, Ho C. Hypertrophic Cardiomyopathy Overview. 2008 Aug 5 [Updated 2014 Jan 16]. In: Pagon RA, et al., editors. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.

Long QT Syndrome (LQTS)

  1. Alders M and Christiaans I. Long QT Syndrome. 2003 Feb 20 [Updated 2015 Jun 18]. In: Pagon RA, et al., editors. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 
  2. Schwartz PJ, et al. Diagnostic criteria for the long QT syndrome. An update. Circulation. 1993 Aug;88(2):782-4.
  3. Woosley RL and Romero KA. “QTDrugs Lists” at CredibleMeds®. AZCERT, Inc. 1822 E. Innovation Park Dr., Oro Valley, AZ  85755. Available at www.crediblemeds.org
  4. Vincent GM, et al. The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med. 1992 Sep 17;327(12):846-52.
  5. Zareba W, et al. Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. N Engl J Med. 1998 Oct 1;339(14):960-5.

Sudden Death

  1. Tester DJ, et al. Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012 Jun;87(6):524-39.
  2. Lloyd-Jones D, et al. American Heart Association Statistic Committee and Stroke Statistics Committee. AHA Statistical Update: Heart and Stroke Statistics Update – 2009 Update. Circulation. 2009;119:e1-e161.