• Jason G. HoEmail author
  • Ana Maria Rosales
Part of the Current Clinical Psychiatry book series (CCPSY)


Given the high prevalence of both autism spectrum disorder (ASD) and cardiovascular disorders and evidence that both are increasing, there is a high likelihood that both pediatric and adult medical providers will care for patients with both conditions. While cardiac disorders do not afflict the majority of individuals with ASD, there are several genetic syndromes associated with increased risk of both conditions. The approach to the cardiac examination and history of a patient with ASD may need modification based on sensory and developmental issues. Symptoms to focus on include chest pain, palpitations, shortness of breath, dizziness, syncope, exercise intolerance, and pallor. An important topic in the treatment of patients with ASD involves the potential cardiac side effects associated with the use of some psychotropic medications. In general, evidence suggests that the use of these medications is safe for the vast majority of patients. Routine electrocardiogram screening is appropriate when risk factors are involved, including past medical and family histories of cardiac defects, symptomatology, and physical findings.


Autism spectrum disorder Congenital heart disease Comorbidities Prevalence Syndromes 


  1. 1.
    Accordino RE, Kidd C, Politte LC, Henry CA, McDougle CJ. Psychopharmacological interventions in autism spectrum disorder. Expert Opin Pharmacother. 2016;17(7):937–52.PubMedGoogle Scholar
  2. 2.
    Antshel KM, Aneja A, Strunge L, Peebles J, Fremont WP, Stallone K, AbdulSabur N, Higgins AM, Shprintzen RJ, Kates WR. Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion). J Autism Dev Disord. 2007;37(9):1776–86.PubMedGoogle Scholar
  3. 3.
    Barry CL, Martin A, Busch SH. ADHD medication use following FDA risk warnings. J Ment Health Policy Econ. 2012;15(3):119–25.PubMedPubMedCentralGoogle Scholar
  4. 4.
    Bean Jaworski JL, Flynn T, Burnham N, Chittams JL, Sammarco T, Gerdes M, Bernbaum JC, Clancy RR, Solot CB, Zackai EH, McDonald-McGinn DM, Gaynor JW. Rates of autism and potential risk factors in children with congenital heart defects. Congenit Heart Dis. 2017;12(4):421–9.PubMedPubMedCentralGoogle Scholar
  5. 5.
    Bilder D, Botts EL, Smith KR, Pimentel R, Farley M, Viskochil J, McMahon WM, Block H, Ritvo E, Ritvo RA, Coon H. Excess mortality and causes of death in autism spectrum disorders: a follow up of the 1980s Utah/UCLA autism epidemiologic study. J Autism Dev Disord. 2013;43(5):1196–204.PubMedPubMedCentralGoogle Scholar
  6. 6.
    Bondy CA. Congenital cardiovascular disease in Turner syndrome. Congenit Heart Dis. 2008;3(1):2–15.PubMedGoogle Scholar
  7. 7.
    Botto LD, Correa A, Erickson JD. Racial and temporal variations in the prevalence of heart defects. Pediatrics. 2001;107(3):E32.PubMedGoogle Scholar
  8. 8.
    Bruno CJ, Havranek T. Screening for critical congenital heart disease in newborns. Adv Pediatr Infect Dis. 2015;62(1):211–26.Google Scholar
  9. 9.
    Burnett AC, Reutens DC, Wood AG. Social cognition in Turner’s syndrome. J Clin Neurosci. 2010;17:283–6.PubMedGoogle Scholar
  10. 10.
    Carter JC, Capone GT, Gray RM, Cox CS, Kaufmann WE. Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities. Am J Med Genet B Neuropsychiatr Genet. 2007;144B(1):87–94.PubMedGoogle Scholar
  11. 11.
    Christensen D, Baio J, Braun K, Bilder D, Charles J, Constantino JN, Daniels J, et al. Prevalence and characteristics of autism spectrum disorder among children aged 8 years — autism and developmental disabilities monitoring network, 11 sites, United States, 2012. MMWR Surveill Summ. 2016a;65(3):1–23.PubMedGoogle Scholar
  12. 12.
    Christensen D, Bilder D, Zahorodny W, Pettygrove S, Durkin M, Fitzgerald RT, Rice C, Kurzius-Spencer M, Baio J, Yeargin-Allsopp M. Prevalence and characteristics of autism spectrum disorder among 4-year-old children in the autism and developmental disabilities monitoring network. J Dev Behav Pediatr. 2016b;37(1):1–8.PubMedGoogle Scholar
  13. 13.
    Cooper WO, Habel LA, Sox CM, Chan KA, Arbogast PG, Cheetham TC, Murray KT, Quinn VP, Stein CM, Callahan ST, Fireman BH, Fish FA, Kirshner HS, O’Duffy A, Connell FA, Ray WA. ADHD drugs and serious cardiovascular events in children and young adults. N Engl J Med. 2011;365(20):1896–904.PubMedPubMedCentralGoogle Scholar
  14. 14.
    Cortese S, Holtmann M, Banaschewski T, Buitelaar J, Coghill D, Danckaerts M, Dittmann RW, Graham J, Taylor E, Sergeant J, European ADHD Guidelines Group. Practitioner review: current best practice in the management of adverse events during treatment with ADHD medications in children and adolescents. J Child Psychol Psychiatry. 2013;54(3):227–46.PubMedGoogle Scholar
  15. 15.
    Council on Children With Disabilities, Section on Developmental Behavioral Pediatrics, Bright Futures Steering Committee, Medical Home Initiatives for Children With Special Needs Project Advisory Committee. Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics. 2006;118(1):405–20.Google Scholar
  16. 16.
    Creswell CS, Skuse DH. Autism in association with Turner syndrome: genetic implications for male vulnerability to pervasive developmental disorders. Neurocase. 1999;5:511–8.Google Scholar
  17. 17.
    De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515(7526):209–15.PubMedPubMedCentralGoogle Scholar
  18. 18.
    DiGuiseppi C, Hepburn S, Davis JM, Fidler DJ, Hartway S, Lee NR, Miller L, Ruttenber M, Robinson C. Screening for autism spectrum disorders in children with Down syndrome: population prevalence and screening test characteristics. J Dev Behav Pediatr. 2010;31(3):181–91.PubMedPubMedCentralGoogle Scholar
  19. 19.
    Fayek M, Kingsbury SJ, Zada J, Simpson GM. Cardiac effects of antipsychotic medications. Psychiatr Serv. 2001;52(5):607–9.PubMedGoogle Scholar
  20. 20.
    Fine SE, Weissman A, Gerdes M, Pinto-Martin J, Zackai EH, McDonald-McGinn DM, Emanuel BS. Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord. 2005 JAS;35(4):461–70.PubMedPubMedCentralGoogle Scholar
  21. 21.
    Frid C, Drott P, Lundell B, Rasmussen F, Anneren G. Mortality in Down’s syndrome in relation to congenital malformations. J Intellect Disabil Res. 1999;43:234–41.PubMedGoogle Scholar
  22. 22.
    Friedman KG, Alexander ME. Chest pain and syncope in children: a practical approach to the diagnosis of cardiac disease. J Pediatr. 2013;163(3):896–901.e1-3.PubMedPubMedCentralGoogle Scholar
  23. 23.
    Fuller S, Nord AS, Gerdes M, Wernovsky G, Jarvik GP, Bernbaum J, Zackai E, Gaynor JW. Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery. Eur J Cardiothorac Surg. 2009;36:40–7.PubMedGoogle Scholar
  24. 24.
    Geggel RL. Conditions leading to pediatric cardiology consultation in a tertiary academic hospital. Pediatrics. 2004;114(4):e409–17.PubMedGoogle Scholar
  25. 25.
    Hasnain M, Vieweg WV. QTc interval prolongation and torsade de pointes associated with second-generation antipsychotics and antidepressants: a comprehensive review. CNS Drugs. 2014;28:887–920.PubMedGoogle Scholar
  26. 26.
    Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK, International Tuberous Sclerosis Consensus Group. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group. J Am Heart Assoc. 2014;3(6):e001493.PubMedPubMedCentralGoogle Scholar
  27. 27.
    Hövels-Gürich H, Konrad K, Skorzenski D, Nacken C, Minkenberg R, Messmer BJ, Seghaye MC. Long-term neurodevelopmental outcome and exercise capacity after corrective surgery for tetralogy of Fallot or ventricular septal defect in infancy. Ann Thorac Surg. 2006;81(3):958–66.PubMedGoogle Scholar
  28. 28.
    Howland RH. Psychiatric medications and sudden cardiac death: putting the risk in perspective. J Psychosoc Nurs Ment Health Serv. 2015;53(2):23–5.PubMedGoogle Scholar
  29. 29.
    Hsia T-Y, Gruber PJ. Factors influencing neurologic outcome after neonatal cardiopulmonary bypass: what we can and cannot control. Ann Thorac Surg. 2006;81(6):S2381–8.PubMedGoogle Scholar
  30. 30.
    Islam MP, Roach ES. Tuberous sclerosis complex. Handb Clin Neurol. 2015;132:97–109.PubMedGoogle Scholar
  31. 31.
    Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017;49(11):1593–601.PubMedPubMedCentralGoogle Scholar
  32. 32.
    Kesler SR. Turner syndrome. Child Adolesc Psychiatr Clin N Am. 2007;16:709–22.PubMedPubMedCentralGoogle Scholar
  33. 33.
    Khairy P, Ionescu-Ittu R, Mackie AS, Abrahamowicz M, Pilote L, Marelli AJ. Changing mortality in congenital heart disease. J Am Coll Cardiol. 2010;56:1149–57.PubMedGoogle Scholar
  34. 34.
    Khairy P, Van Hare GF, Balaji S, Berul CI, Cecchin F, Cohen MI, Daniels CJ, Deal BJ, et al. PACES/HRS Expert Consensus Statement on the Recognition and Management of Arrhythmias in Adult Congenital Heart Disease: developed in partnership between the Pediatric and Congenital Electrophysiology Society (PACES) and the Heart Rhythm Society (HRS). Endorsed by the governing bodies of PACES, HRS, the American College of Cardiology (ACC), the American Heart Association (AHA), the European Heart Rhythm Association (EHRA), the Canadian Heart Rhythm Society (CHRS), and the International Society for Adult Congenital Heart Disease (ISACHD). Heart Rhythm. 2014;11(10):e102–65.PubMedGoogle Scholar
  35. 35.
    Knickmeyer RC, Davenport M. Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders. J Neurodev Disord. 2011;3(4):293–306.PubMedPubMedCentralGoogle Scholar
  36. 36.
    Labellarte MJ, Crosson JE, Riddle MA. The relevance of prolonged QTc measurement to pediatric psychopharmacology. J Am Acad Child Adolesc Psychiatry. 2003;42(6):642–50.PubMedGoogle Scholar
  37. 37.
    Lai MC, Lombardo MV, Autism B-CS. Lancet. 2014;383(9920):896–910.PubMedGoogle Scholar
  38. 38.
    Lincoln AJ, Searcy YM, Jones W, Lord C. Social interaction behaviors discriminate young children with autism and Williams syndrome. J Am Acad Child Adolesc Psychiatry. 2007;46(3):323–31.PubMedGoogle Scholar
  39. 39.
    Marelli A, Gilboa S, Devine O, et al. Estimated the Congenital Heart Disease Population in the United States in 2010 – What are the Numbers?. J Am Coll Cardiol. 2012;59:E787.–1097(12)60788-8.
  40. 40.
    Marino BS, Lipkin PH, Newburger JW, Peacock G, Gerdes M, Gaynor JW, Mussatto KA, et al. Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. Circulation. 2012;126(9):1143–72.PubMedGoogle Scholar
  41. 41.
    McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine. 2011;90(1):1–18.PubMedPubMedCentralGoogle Scholar
  42. 42.
    Miatton M, De Wolf D, Francois K, Thiery E, Vingerhoets G. Neuropsychological performance in school-aged children with surgically corrected congenital heart disease. J Pediatr. 2007;151(1):73–8. 78.e1PubMedGoogle Scholar
  43. 43.
    Miller SP, McQuillen PS, Vigneron DB, Glidden DV, Barkovich AJ, Ferriero DM, Hamrick SE, Azakie A, Karl TR. Preoperative brain injury in newborns with transposition of the great arteries. Ann Thorac Surg. 2004;77(5):1698–706.PubMedGoogle Scholar
  44. 44.
    Miodovnik A, Harstad E, Sideridis G, Huntington N. Timing of the diagnosis of attention-deficit/hyperactivity disorder and autism spectrum disorder. Pediatrics. 2015;136(4):e830–7.PubMedGoogle Scholar
  45. 45.
    Moss J, Richards C, Nelson L, Oliver C. Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome. Autism. 2013;17(4):390–404.PubMedGoogle Scholar
  46. 46.
    Mouridsen SE, Rich B, Isager T. Diseases of the circulatory system among adult people diagnosed with infantile autism as children: a longitudinal case control study. Res Dev Disabil. 2016;57:193–200.PubMedGoogle Scholar
  47. 47.
    Niklasson L, Rasmussen P, Oskarsdóttir S, Gillberg C. Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Res Dev Disabil. 2009;30(4):763–73.PubMedGoogle Scholar
  48. 48.
    Pediatric and Congenital Electrophysiology Society (PACES), Heart Rhythm Society (HRS), American College of Cardiology Foundation (ACCF), American Heart Association (AHA), American Academy of Pediatrics (AAP), Canadian Heart Rhythm Society (CHRS), et al. PACES/HRS expert consensus statement on the management of the asymptomatic young patient with a Wolff-Parkinson-White (WPW, ventricular preexcitation) electrocardiographic pattern: developed in partnership between the Pediatric and Congenital Electrophysiology Society (PACES) and the Heart Rhythm Society (HRS). Endorsed by the governing bodies of PACES, HRS, the American College of Cardiology Foundation (ACCF), the American Heart Association (AHA), the American Academy of Pediatrics (AAP), and the Canadian Heart Rhythm Society (CHRS). Heart Rhythm. 2012;9(6):1006–24.Google Scholar
  49. 49.
    Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010;362(3):239–52.PubMedGoogle Scholar
  50. 50.
    Razzaghi H, Oster M, Reefhuis J. Long-term outcomes in children with congenital heart disease: National Health Interview Survey. J Pediatr. 2015;166(1):119–24.PubMedGoogle Scholar
  51. 51.
    Reilly C. Autism spectrum disorders in Down syndrome: a review. Res Autism Spectr Disord. 2009;3:829–39.Google Scholar
  52. 52.
    Rohatgi RK, Bos JM, Ackerman MJ. Stimulant therapy in children with attention-deficit/hyperactivity disorder and concomitant long QT syndrome: a safe combination? Heart Rhythm. 2015;12(8):1807–12.PubMedPubMedCentralGoogle Scholar
  53. 53.
    Rutter M, Bailey A, Lord C, Berument SK. The social communication questionnaire. Los Angeles: Western Psychological Services; 2003.Google Scholar
  54. 54.
    Saleeb SF, Li WY, Warren SZ, Lock JE. Effectiveness of screening for life-threatening chest pain in children. Pediatrics. 2011;128(5):e1062–8.PubMedGoogle Scholar
  55. 55.
    Shah AA, Aftab A, Coverdale J. QTc prolongation with antipsychotics: is routine ECG monitoring recommended? J Psychiatr Pract. 2014;20(3):196–206.PubMedGoogle Scholar
  56. 56.
    Shuler CO, Black GB, Jerrell JM. Population-based treated prevalence of congenital heart disease in a pediatric cohort. Pediatr Cardiol. 2013;34:606–11.PubMedGoogle Scholar
  57. 57.
    Southammakosane C, Schmitz K. Pediatric psychopharmacology for treatment of ADHD, depression, and anxiety. Pediatrics. 2015;136(2):351–9.PubMedGoogle Scholar
  58. 58.
    Tordjman S, Anderson GM, Botbol M, Toutain A, Sarda P, Carlier M, Saugier-Veber P, et al. Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. PLoS One. 2012;7(3):e30778.PubMedPubMedCentralGoogle Scholar
  59. 59.
    Tsao PC, Lee YS, Jeng MJ, Hsu JW, Huang KL, Tsai SJ, Chen MH, Soong WJ, Kou YR. Additive effect of congenital heart disease and early developmental disorders on attention-deficit/hyperactivity disorder and autism spectrum disorder: a nationwide population-based longitudinal study. Eur Child Adolesc Psychiatry. 2017;26(11):1351–9.PubMedGoogle Scholar
  60. 60.
    Tyler CV, Schramm SC, Karafa M, Tang AS, Jain AK. Chronic disease risks in young adults with autism spectrum disorder: forewarned is forearmed. Am J Intellect Dev Disabil. 2011;116(5):371–80.PubMedGoogle Scholar
  61. 61.
    van der Linde D, Konings EE, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJ, Roos-Hesselink JW. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol. 2011;58:2241–7.PubMedGoogle Scholar
  62. 62.
    Vetter VL, Elia J, Erickson C, Berger S, Blum N, Uzark K, Webb CL, American Heart Association Council on Cardiovascular Disease in the Young Congenital Cardiac Defects Committee, American Heart Association Council on Cardiovascular Nursing. Cardiovascular monitoring of children and adolescents with heart disease receiving medications for attention deficit/hyperactivity disorder [corrected]: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young Congenital Cardiac Defects Committee and the Council on Cardiovascular Nursing. Circulation. 2008;117(18):2407–23.PubMedGoogle Scholar
  63. 63.
    Vignoli A, La Briola F, Peron A, Turner K, Vannicola C, Saccani M, Magnaghi E, Scornavacca GF, Canevini MP. Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers. Orphanet J Rare Dis. 2015;10:154.PubMedPubMedCentralGoogle Scholar
  64. 64.
    Vis JC, Duffels MG, Winter MM, Weijerman ME, Cobbin JM, Huisman SA, Mulder BJ. Down syndrome: a cardiovascular perspective. J Intellect Disabil Res. 2009;53(5):419–25.PubMedGoogle Scholar
  65. 65.
    Wier ML, Yoshida CK, Odouli R, Grether JK, Croen LA. Congenital anomalies associated with autism spectrum disorders. Dev Med Child Neurol. 2006;48(6):500–7.PubMedGoogle Scholar
  66. 66.
    Wren C, Reinhardt Z, Khawaja K. Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations. Arch Dis Child Fetal Neonatal Ed. 2008;93(1):F33–5.PubMedGoogle Scholar
  67. 67.
    Yeh TK, Yeh J. Chest pain in pediatrics. Pediatr Ann. 2015;44(12):e274–8.PubMedGoogle Scholar
  68. 68.
    Yoon Y, Wink LK, Pedapati EV, Horn PS, Erickson CA. Weight gain effects of second-generation antipsychotic treatment in Autism Spectrum disorder. J Child Adolesc Psychopharmacol. 2016;26(9):822–7.PubMedGoogle Scholar
  69. 69.
    Zhang C, Kutyifa V, Moss AJ, McNitt S, Zareba W, Kaufman ES. Long-QT syndrome and therapy for attention deficit/hyperactivity disorder. J Cardiovasc Electrophysiol. 2015;26(10):1039–44.PubMedPubMedCentralGoogle Scholar
  70. 70.
    Polyak A, Kubina RM, Girirajan S. Comorbidity of intellectual disability confounds ascertainment of autism: implications for genetic diagnosis. Am J Med Genet B Neuropsychiatr Genet. 2015;168(7):600–8.Google Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Cardiology, University of Florida College of MedicineJacksonvilleUSA
  2. 2.Department of Pediatrics, Massachusetts General HospitalBostonUSA

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