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Congenital heart disease

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Priyamvada Singh, MBBS [2] Assistant Editor(s)-In-Chief: Kristin Feeney, B.S. [3]

Synonyms and keywords: CHD; cardiac malformation

Overview

Overview

Congenital heart disease (CHD) is the most common type of birth defect, accounting for about 1% of all cases [4]. Although mild cases of CHD are not detected until after discharge, most of the critical CHD cases are identified soon after birth requiring surgery or catheter-based intervention in the first year of life. CHD is broadly classified into three major groups, namely, cyanotic CHD, ductal-dependent CHD and critical CHD. Cyanotic CHD involves defects that lead to mixing of deoxygenated blood into the systemic circulation. Ductal-dependent CHD relies on the patency of the ductus arteriosus for supply of blood to the pulmonary or systemic outflow which allows adequate mixing between the parallel circulations. Lesions requiring surgery or catheter-based intervention in the first year of life are referred to as critical CHD which includes ductal-dependent and cyanotic lesions, as well as forms of CHD that, although not requiring surgery in the neonatal period, do necessitate intervention in the first year of life, such as a big ventricular septal defect or an atrioventricular canal defect (or atrioventricular septal defect).

Anatomy

Anatomy

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Priyamvada Singh, M.B.B.S. [2]; Assistant Editor-In-Chief: Kristin Feeney, B.S. [3]

Overview

Congenital heart disease involves the malformation of the heart during fetal development. Many forms of congenital heart disease have specific anatomical deviations associated specifically with that condition.

Anatomy

Anatomy of a Normal Heart

Anatomy of a Congenital Heart Disease

There are many anatomical variations that arise involving congenital heart disease. The following congenital heart diseases each have unique anatomical formations:

References

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Classification

Classification

Aortic stenosis | Atrial septal defect (ASD) | Atrial septal defect sinus venosus | Atrioventricular canal | Atrioventricular septal defect (AVSD) | Bicuspid aortic valve | Brugada syndrome | Cardiomyopathy | Coarctation of the aorta (CoA) | dextro-Transposition of the great arteries (d-TGA) | Dextrocardia | Ebstein’s anomaly | Hypoplastic left heart syndrome (HLHS) | Hypoplastic right heart syndrome | Interrupted aortic arch (IAA) | levo-Transposition of the great arteries (l-TGA) | Lutembacher’s syndrome | Mitral stenosis | Ostium primum | Ostium secundum | Partial anomalous pulmonary venous connection (PAPVC) | Patent ductus arteriosus (PDA) | Pulmonary atresia | Pulmonary stenosis | Septum primum | Subaortic stenosis | Tetralogy of Fallot (ToF) | Total anomalous pulmonary venous connection (TAPVC) | Tricuspid atresia | Truncus arteriosus | Ventricular septal defect (VSD)

Pathophysiology

Pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Priyamvada Singh, MBBS [2]; Assistant Edtior-In-Chief: Kristin Feeney, B.S. [3]

Overview

Congenital heart disease directly influences the normal mechanical, physical and biomechanical functioning of the heart. There are many forms of congenital heart disease and subsequently, each condition holds its own unique pathophysiology.

Pathophysiology

During fetal development, a congenital heart disease will directly influence the formation of the anatomical structure of the heart. This in turn influences the normal mechanical, physical and biomechanical functioning of the heart. Refer to the following sections for the unique pathophysiology of each specific condition.

Genetics

While many genetic syndromes are associated with a congenital heart defect, the obverse is not true and many cases of congenital heart disease are not associated with a genetic defect. The genetics of congenital heart disease may vary by defect. Other genetic syndromes associated with congenital heart disease include the following:

References

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Causes

Causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Priyamvada Singh, MBBS [2] Ogheneochuko Ajari, MB.BS, MS [3] Assistant Editor-In-Chief: Kristin Feeney, B.S. [4]

Overview

Current knowledge regarding the causes of congenital heart disease is limited. Most research has been based on small studies (<1,000 patients). As is common with many congenital related conditions, there are gaps in knowledge regarding the causation of congenital heart disease. Congenital heart disease is multi-factorial in origin, with genetics and environmental factors both playing a role.

Causes

Life Threatening Causes

Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.

Common Causes

Causes by Organ System

Cardiovascular Acrocephalopolysyndactyly type III, Alagille syndrome, aortic stenosis, atrial septal defect, atrioventricular septal defect, Barrow-Fitzsimmons syndrome, Beuren-Williams syndrome, cardiocranial syndrome, cardiofaciocutaneous syndrome, CHARGE syndrome, coarctation of aorta, Down syndrome, Eisenmenger’s syndrome, endocardial cushion defect, faciocardiomelic syndrome, Forney Robinson Pascoe syndrome, Gay-Feinmesser-Cohen syndrome, Goossens-Devriendt syndrome, Ho Kaufman Mcalister syndrome, humerospinal dysostosis, Hurst-Hallam-Hockey syndrome, hypoplastic left heart syndrome, Loeys-Dietz syndrome, Marfan syndrome, mitral stenosis, Moyamoya disease, neonatal lupus, Noonan syndrome, patent ductus arteriosus, pulmonary atresia, pulmonic stenosis, Sakati syndrome, systemic lupus erythematosus, TAR syndrome, tetralogy of Fallot, total anomalous pulmonary venous connection, transposition of the great vessels, tricuspid atresia, tricuspid stenosis, trisomy 13, trisomy 18, trisomy 21, truncus arteriosus, Turner syndrome, VACTERL association, ventricular septal defect, Yorifuji Okuno syndrome, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome
Chemical / poisoning Organic solvents
Dermatologic Cardiofaciocutaneous syndrome, Down syndrome, neonatal lupus, systemic lupus erythematosus, trisomy 21, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome
Drug Side Effect Amphetamine, benzodiazepines, hydantoin, ibuprofen, isotretinoin, lithium, phenytoin, retinoic acid, thalidomide
Ear Nose Throat CHARGE syndrome, Down syndrome, Forney Robinson Pascoe syndrome, Ho Kaufman Mcalister syndrome, Hurst-Hallam-Hockey syndrome, lymphedema-distichiasis syndrome, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome
Endocrine Down syndrome, gestational diabetes, maternal diabetes mellitus, Turner syndrome, Yorifuji Okuno syndrome
Environmental No underlying causes
Gastroenterologic Alagille syndrome, Down syndrome, systemic lupus erythematosus, VACTERL association, Yorifuji Okuno syndrome
Genetic Acrocephalopolysyndactyly type III, Alagille syndrome, Beuren-Williams syndrome, CADASIL, cardiocranial syndrome, cardiofaciocutaneous syndrome, CATCH 22 syndrome, chromosome 8 recombinant syndrome, Costello syndrome, DiGeorge’s syndrome, Down syndrome, Ebstein’s anomaly, Edwards syndrome, Leopard syndrome, lissencephaly syndrome type 1, Loeys-Dietz syndrome, Marfan syndrome, Noonan syndrome, Pfeiffer syndrome type III, Sakati syndrome, TAR syndrome, trisomy 13, trisomy 18, trisomy 21, Turner syndrome, Williams syndrome
Hematologic Systemic lupus erythematosus, TAR syndrome
Iatrogenic No underlying causes
Infectious Disease Congenital rubella syndrome, coxsackie virus, cytomegalovirus, herpes virus
Musculoskeletal / Ortho Barrow-Fitzsimmons syndrome, Down syndrome, faciocardiomelic syndrome, Forney Robinson Pascoe syndrome, Gay-Feinmesser-Cohen syndrome, Goossens-Devriendt syndrome, Ho Kaufman Mcalister syndrome, humerospinal dysostosis, lymphedema-distichiasis syndrome, Marfan syndrome, systemic lupus erythematosus, TAR syndrome, Turner syndrome, VACTERL association
Neurologic CADASIL, cardiocranial syndrome, CHARGE syndrome, Down syndrome, Goossens-Devriendt syndrome, Hurst-Hallam-Hockey syndrome, lissencephaly syndrome type 1, Marfan syndrome, Moyamoya disease, systemic lupus erythematosus, Williams syndrome, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome
Nutritional / Metabolic Phenylketonuria
Obstetric/Gynecologic Turner syndrome
Oncologic No underlying causes
Opthalmologic Barrow-Fitzsimmons syndrome, Down syndrome, lymphedema-distichiasis syndrome, Marfan syndrome, Moyamoya disease, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome
Overdose / Toxicity Drug abuse, fetal alcohol syndrome
Psychiatric Costello syndrome, Down syndrome, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome
Pulmonary Acrocephalopolysyndactyly type III, systemic lupus erythematosus, Marfan syndrome
Renal / Electrolyte Systemic lupus erythematosus, Turner syndrome, VACTERL association
Rheum / Immune / Allergy CATCH 22 syndrome, DiGeorge’s syndrome, neonatal lupus, systemic lupus erythematosus
Sexual Barrow-Fitzsimmons syndrome, Turner syndrome
Trauma No underlying causes
Urologic VACTERL association
Dental No underlying causes
Miscellaneous Assisted reproductive technology

Causes Based on Classification of Congenital heart diseases

Acyanotic and Septal Defects

Atrial Septal Defect [2][3][4]

Ventricular Septal Defect [3]

Patent Ductus Arteriosus [2][3]

Atrioventricular Septal Defect [5][3]

Obstruction Defects

Aortic valve stenosis

Coarctation of the Aorta

Pulmonic Valve Stenosis

Subaortic Stenosis

Cyanotic Defects

Persistent Truncus Arteriosus

Tetralogy of Fallot

Transposition of the great vessels

Combined Causes in Alphabetical Order

References

  1. ↑ 1.0 1.1 Prendiville TW, Gauvreau K, Tworog-Dube E, Patkin L, Kucherlapati RS, Roberts AE; et al. (2014). “Cardiovascular disease in Noonan syndrome”. Arch Dis Child. 99 (7): 629–34. doi:10.1136/archdischild-2013-305047. PMID 24534818.
  2. ↑ 2.0 2.1 Zheng JY, Tian HT, Zhu ZM, Li B, Han L, Jiang SL; et al. (2013). “Prevalence of symptomatic congenital heart disease in Tibetan school children”. Am J Cardiol. 112 (9): 1468–70. doi:10.1016/j.amjcard.2013.07.028. PMID 24012023.
  3. ↑ 3.0 3.1 3.2 3.3 3.4 Sadoh WE, Uzodimma CC, Daniels Q (2013). “Congenital heart disease in Nigerian children: a multicenter echocardiographic study”. World J Pediatr Congenit Heart Surg. 4 (2): 172–6. doi:10.1177/2150135112474026. PMID 23799730.
  4. ↑ Liu JJ, Fan LL, Chen JL, Tan ZP, Yang YF (2014). “A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect”. J Zhejiang Univ Sci B. 15 (9): 830–7. doi:10.1631/jzus.B1400062. PMC 4162884. PMID 25183037.
  5. ↑ Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S; et al. (2014). “Rare variants in NR2F2 cause congenital heart defects in humans”. Am J Hum Genet. 94 (4): 574–85. doi:10.1016/j.ajhg.2014.03.007. PMC 3980509. PMID 24702954.
  6. ↑ Stratton RF, Parsons DS (1989). “Third case of Pfeiffer-type cardiocranial syndrome”. Am J Med Genet. 34 (4): 587–8. doi:10.1002/ajmg.1320340427. PMID 2624274.
  7. ↑ Baraona F, Gurvitz M, Landzberg MJ, Opotowsky AR (2013). “Hospitalizations and mortality in the United States for adults with Down syndrome and congenital heart disease”. Am J Cardiol. 111 (7): 1046–51. doi:10.1016/j.amjcard.2012.12.025. PMID 23332593.
  8. ↑ Opotowsky AR, Landzberg MJ, Beghetti M (2014). “The exceptional and far-flung manifestations of heart failure in Eisenmenger syndrome”. Heart Fail Clin. 10 (1): 91–104. doi:10.1016/j.hfc.2013.09.005. PMID 24275297.
  9. ↑ Forney WR, Robinson SJ, Pascoe DJ (1966). “Congenital heart disease, deafness, and skeletal malformations: a new syndrome?”. J Pediatr. 68 (1): 14–26. PMID 5901343.
  10. ↑ Cortina H, Vidal J, Vallcanera A, Alberto C, Muro D, Dominguez F (1979). “Humero-spinal dysostosis”. Pediatr Radiol. 8 (3): 188–90. PMID 112567.
  11. ↑ Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K; et al. (2014). “The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease”. Hum Genet. 133 (1): 11–27. doi:10.1007/s00439-013-1353-9. PMC 3880624. PMID 23979609.
  12. ↑ Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P (2010). “A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation”. Ophthalmic Genet. 31 (2): 98–100. doi:10.3109/13816811003620517. PMID 20450314.
  13. ↑ Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF; et al. (2002). “Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24”. J Med Genet. 39 (7): 478–83. PMC 1735188. PMID 12114478.
  14. ↑ Tanpaiboon P, Kantaputra P, Wejathikul K, Piyamongkol W (2010). “c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient”. Am J Med Genet A. 152A (3): 737–40. doi:10.1002/ajmg.a.33273. PMID 20186799.
  15. ↑ Morais S, Santos IC, Pereira DF, Mimoso G (2013). “Neonatal lupus with atypical cardiac and cutaneous manifestation”. BMJ Case Rep. 2013. doi:10.1136/bcr-2013-009249. PMID 23839605.
  16. ↑ Quan MY, Wang DH (2013). “[Clinical features of preterm infants born to mothers with systemic lupus erythematosus: a retrospective analysis]”. Zhongguo Dang Dai Er Ke Za Zhi. 15 (12): 1045–9. PMID 24342193.
  17. ↑ Yang YQ, Gharibeh L, Li RG, Xin YF, Wang J, Liu ZM; et al. (2013). “GATA4 loss-of-function mutations underlie familial tetralogy of fallot”. Hum Mutat. 34 (12): 1662–71. doi:10.1002/humu.22434. PMID 24000169.
  18. ↑ Kohi MP, Ordovas KG, Naeger DM, Meadows AK, Foster E, Higgins CB (2013). “CMR assessment of right ventricular function in patients with combined pulmonary stenosis and insufficiency after correction of tetralogy of Fallot”. Acta Radiol. 54 (10): 1132–7. doi:10.1177/0284185113491565. PMID 23864059.
  19. ↑ Cunningham BK, Hadley DW, Hannoush H, Meltzer AC, Niforatos N, Pineda-Alvarez D; et al. (2013). “Analysis of cardiac anomalies in VACTERL association”. Birth Defects Res A Clin Mol Teratol. 97 (12): 792–7. doi:10.1002/bdra.23211. PMID 24343877.
  20. ↑ Al-Farqani A, Panduranga P, Al-Maskari S, Thomas E (2013). “VACTERL association with double-chambered left ventricle: A rare occurrence”. Ann Pediatr Cardiol. 6 (2): 200–1. doi:10.4103/0974-2069.115283. PMC 3957460. PMID 24688248.

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Differentiating Congenital heart disease from other Disorders

Differentiating Congenital heart disease from other Disorders

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor-In-Chief: Priyamvada Singh, MBBS [2] Keri Shafer, M.D. [3], Atif Mohammad, M.D.; Assistant Editor-In-Chief: Kristin Feeney, B.S. [4]

Overview

During diagnostic evaluation, it is important to recognize that signs and symptoms of congenital heart disease can be similar to other conditions. Differentiation must be made between other genetic disorders such as trisomy 13, turner’s syndrome, down’s syndrome, noonan syndrome, ellis-van creveld syndrome and marfan’s syndrome.[1]

Differential Diagnosis

Several conditions, produce signs and symptoms that are similar to those produced by congenital heart disease. These include:

References

  1. ↑ Epstein AE, DiMarco JP, Ellenbogen KA, Estes NAM III, Freedman RA, Gettes LS, Gillinov AM, Gregoratos G, Hammill SC, Hayes DL, Hlatky MA, Newby LK, Page RL, Schoenfeld MH, Silka MJ, Stevenson LW, Sweeney MO. ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices). Circulation. 2008; 117: 2820–2840. PMID 18483207

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Epidemiology and Demographics

Epidemiology and Demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Keri Shafer, M.D. [2],Atif Mohammad, M.D., Priyamvada Singh, M.B.B.S. [3]; Assistant Editor(s)-In-Chief: Kristin Feeney, B.S. [4]

Overview

Congenital heart disease is the most common birth defect, affecting one in every 125 live births. More children die each year from congenital heart disease than from all forms of pediatric cancers combined.

Epidemiology and Demographics

  • Affects approximately one in every 125 babies born.[1]
  • The eight most common congenital heart defects account for 80% of all congenital heart diseases, while the remaining 20% consist of many independently infrequent conditions or combinations of several defects.
  • In the US, 40,000 people each year are born with congenital heart disease.[2]
  • In the US, 4,000 out of the 40,000 do not survive past infancy and into the second year of life.[2]
  • In the US, twice as many children die each year from congenital heart disease than from all forms of pediatric cancers combined.[2]
  • Ventricular septal defect (VSD) accounts for one-third of all congenital heart disease, making it the most common congenital heart defect.
  • Incidence of VSD is:
    • 4-5% higher when a parent or sibling has a heart defect.
    • 3-4% higher in stillborns
    • 10-25% higher in abortuses
    • 2% higher in premature infants
  • Approximately 1 million adults in united states are estemated to have Congenital heart defect.
  • Growth of population with congenital heart defect is 5%

The number of adults with problems connected to a congenital heart defect is rising, passing the number of children with congenital heart defects in most Western countries. This group is referred to as grown-up congenital heart disease (GUCH) patients.

Gender

According to “Teratological rule of sexual dimorphism” (V. Geodakian, 1970), inborn anomalies that have atavistic nature appear more frequently among females, and futuristic anomalies appear among males. This rule was applied to explain differences in sex ratio observed for congenital heart defects.[3][4]

In the 32,000 diagnoses of “female” malformations, those relating to the heart of the embryo and to the phylogenetic human predecessors predominated (Table). The most well-defined female’s defects are patent ductus arteriosus (1♂ : 2.72♀), Lutembacher disease (1♂ : 2.1♀), and ostium secundum (1♂ : 1.84♀).

Sex ratio of patients with congenital heart defects
Congenital heart defect Sex ratio, males:females
Patent ductus arteriosus 1 : 2.72
Lutembaher disease 1 : 2.14
Ostium secundum 1 : 1.84
Ventricular septal defect and patent ductus arteriosus 1 : 1.51
Fallot’s triad 1 : 1.45
Eisenmenger’s complex 1 : 1.40
Partial atrioventricular canal 1 : 1.36
Ostium primum 1 : 1.20
Partial anomalous pulmonary venous connection 1 : 1.19
Ventricular septal defect 1 : 1.02
Potts and Waterston-Cooley shunts 1 : 1.01
Atrioventricular canal 1 : 1.01
Ebstein’s anomaly 1.02 : 1
Stenosis of lung artery 1.04 : 1
Tricuspid atresia 1.16 : 1
Truncus arteriosus 1.21 : 1
Tetralogy of Fallot 1.35 : 1
Coarctation of aorta and an open arterial channel 1.37 : 1
Total anomalous pulmonary venous connection 1.39 : 1
Transposition of the great arteries 1.90 : 1
Coarctation of the aorta 2.14 : 1
Aortic stenosis 2.66 : 1

Most well-defined “male” congenital heart defects are: aortic stenosis (2.66♂ : 1♀), coarctation of the aorta (2.14♂ : 1♀), transpositions of the great arteries (1.90♂ : 1♀), a total anomalous pulmonary venous connection (1.39♂ : 1♀), and coarctation of aorta with an open arterial channel (1.37♂ : 1♀). None of the male’s components of congenital heart defects have a corresponding similar formation at normal embryo or at phylogenetic predecessors of the humans. They can be considered as unsuccessful tests of the evolution process.

Other congenital heart defects are of a neutral type. The frequency of occurrence is about the same for both sexes. Among them it is also possible to allocate simple (Potts/Waterston-Cooley shunt and ostium primum) and complex (partial and full atrioventricular canal, Ebstain’s anomaly and tricuspid atresia) defects. Simple defects of this group, as well as female defects, can be considered atavistic. The difference between them is that these defects, contrary to female ones, represent a return to the far past in the onthogenetic and phylogenetic sense. They can be considered as a consequence of a block in heart development at early stages of embriogenesis (the first 2-3 months of the embryo’s life during which the anatomic formation of the heart occurs), and at earlier (in comparison to female defects) stages of phylogenesis. For complex defects of the neutral group, the sex ratio depends on which of their components prevail—female or male.

Rokitansky (1875) explained congenital heart defects as breaks in heart development at various ontogenesis stages.[5] Spitzer (1923) treats them as returns to one of the phylogenesis stages.[6] Krimsky (1963), synthesizing two previous points of view, considered congenital heart diseases as a stop of development at a certain stage of ontogenesis, corresponding to this or that stage of the phylogenesis.[7] Hence these theories can explain atavistic heart diseases only (feminine and neutral, according to our classification), and no explanation has been found for masculine defects.

The concept allows considering sex of the patient as a diagnostic symptom. This symptom is stable and cheap and does not harm the patient compared to some invasive diagnostic procedures.

References

  1. ↑ “Congenital heart defects | Baby | Birth defects | March of Dimes”. Retrieved 2013-01-04.
  2. ↑ 2.0 2.1 2.2 “Fact Sheets | The Children’s Heart Foundation”. Retrieved 2013-01-04.
  3. ↑ Geodakyan V. A., Sherman A. L. (1970). “Eksperimental’naja hirurgija i anesteziologija (Experimental surgery and anesthesiology) ” 32 N 2, 18–23.
  4. ↑ Geodakian VA, Sherman AL (1971). “[Relation of congenital anomalies to sex]”. Zh. Obshch. Biol. (in Russian). 32 (4): 417–24. PMID 5146394.
  5. ↑ Rokitarisky K. E. (1875) Die defecte der Scheidewande des Herzens. Wien.
  6. ↑ Spitzer A. (1923) Arch. Pathol. Anat. 243, 81–272.
  7. ↑ Krimski L. D. (1963) Pathological anatomy of congenital heart defects and complications after their surgical treatment. M., Medicine.


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Risk Factors

Risk Factors

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Priyamvada Singh, MBBS [2], Assistant Editor-In-Chief: Kristin Feeney, B.S. [3]

Risk Factors

Individuals at an increased risk for congenital heart disease include:

References

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Natural History, Complications and Prognosis

Natural History, Complications and Prognosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Priyamvada Singh, M.B.B.S. [2], Keri Shafer, M.D. [3], Atif Mohammad, M.D.; Assistant Editor(s)-In-Chief: Kristin Feeney, B.S. [4]

Overview

Congenital heart disease is the most common birth defect. With the advancement of surgical technique, there has been significant improvement in the prognosis of congenital heart disease patients.

Complications

AHA Scientific Statement: Diagnosis and Management of Noncardiac Complications in Adults With Congenital Heart Disease

Types of Heart Disease That May Be Associated With Liver Disease

Right-sided heart disease
Fontan physiology
TOF with residual pulmonary regurgitation
Complete transposition of the great arteries after atrial switch surgery
Pulmonary valve disease
Ebstein anomaly and other tricuspid valve disease
Eisenmenger syndrome
Pulmonary hypertension
Pericardial disease
Left-sided heart disease
Left ventricular out ow obstruction
Mitral valve disease
Ischemic and nonischemic cardiomyopathy
Cor triatriatum
TOF indicates tetralogy of Fallot.

Consideration for Liver Surveillance in Adults With Congenital Heart Disease

Physical examination for signs of liver disease. Signs can include an increased liver span consistent with hepatomegaly, splenomegaly, jaundice, right upper quadrant pain, or ascites.
Laboratory tests, including transaminases, GGT, alkaline phosphatase, bilirubin, albumin, total protein, INR, creatinine, and platelets every 1 to 2 y in patients with CHD at risk for liver disease, including all patients with Fontan circulation starting from 5 y after Fontan completion with frequency of testing increasing at 15 y after Fontan.
All patients who underwent heart surgery in or before 1992 should be screened for chronic hepatitis B and C infection.
All patients with evidence of liver disease should be vaccinated against hepatitis A and B. Those previously vaccinated against hepatitis B should have serologies checked because some patients exhibit waning immunity in adulthood.
Imaging of liver by ultrasound, MRI, or CT should be considered in patients with abnormal laboratory studies or signs of advanced liver disease.115 It is reasonable to perform baseline abdominal imaging in patients with Fontan physiology 5 y after Fontan completion regardless of the presence of other abnormal findings.
Liver biopsy may assist in staging hepatic brosis and diagnosing cirrhosis but is susceptible to sampling error. Liver biopsy remains important in the evaluation of nodules seen on hepatic imaging in patients with liver disease caused by CHD.
CHD indicates congenital heart disease; CT, computed tomography; GGT, γ-glutamyltransferase; INR, international normalized ratio; and MRI, magnetic resonance imaging.

Genetic Syndromes With Cardiac Disorders and Associated Endocrinopathies

Syndrome CHD Association Endocrine Associations Recommendations
Alagille TOF, peripheral PS Short stature

Osteoporosis

Tests: consider DEXA scan

Treatment: calcium and vitamin D supplementation

DiGeorge

(22q11.2 deletion)

Conotruncal abnormalities (TOF, IAA, DORV), AVC, VSD, PDA, PS, vascular ring Hypothyroidism (25%)

Hyperthyroidism (5%) Hypoparathyroidism (80%)

Normal reproductive fitness

Tests: CBC, BMP, TSH, Ca, Mg, PTH, LFT, lipids, HbA1c annually

Treatment: calcium and vitamin D supplementation

Down AVC, TOF, VSD, PDA DM (3- to 10-fold increased risk)

Obesity Hypothyroidism (up to 25%)

Hyperthyroidism (<5%) Hyperlipidemia

Osteoporosis

Tests: lipids and TSH every 5 y FPG/HbA1c every 3 y if >45 y of age or sooner if risk factors are present DEXA scan every 2 year or if any risk factors are present
Kabuki Coarctation of the aorta, ASD, VSD Congenital hypothyroidism

Growth hormone deficiency

Tests: consider TSH
Marfan Dilated aortic root, mitral valve prolapse Possible osteoporosis Tests: consider DEXA scan
Noonan Pulmonic stenosis, hypertrophic cardiomyopathy Delayed puberty

Reduced fertility in male patients Short stature

Tests: no specific endocrine screening
Turner Bicuspid aortic valve, CoA, dilated aorta Hypogonadism

Hypothyroidism (24%) Hyperthyroidism (2.5%)

Hyperlipidemia Impaired glucose tolerance and DM (50%) Osteopenia and osteoporosis

Short stature

Tests: DEXA scan every 3–5 year; TSH, LFTs, lipids, OGTT/HbA1c annually

Treatment: discuss risk/bene t of oestrogen replacement

Williams-Beuren Supravalvular aortic stenosis, supravalvular PS, peripheral PS, coronary artery abnormalities, midaortic syndrome, renal artery stenosis Impaired glucose tolerance and DM (75%); Osteopenia and osteoporosis (45%); Subclinical hypothyroidism (15%–30%); Hypercalcemia Tests: BMP, Ca every 1–2 y; spot urine Ca/ Cr ratio annually; TSH every 3 year; OGTT/ HbA1c every 5 year; DEXA every 5 year

Treatment: care with calcium supplementation given predisposition to hypercalcemia

AVC indicates atrioventricular canal; BMP, basic metabolic panel; CBC, complete blood count; CHD, congenital heart disease; CoA, coarctation of the aorta; Cr, creatinine; DEXA, dual-energy x-ray absorptiometry; DM, diabetes mellitus; DORV, double-outlet right ventricle; FPG, fasting plasma glucose; HbA1c, hemoglobin A1c; IAA, interrupted aortic arch; LFT, liver function test; OGTT, oral glucose tolerance test; PDA, patent ductus arteriosus; PS, pulmonic stenosis; PTH, parathyroid hormone; TOF, tetralogy of Fallot; TSH, thyroid-stimulating hormone; and VSD, ventricular septal defect.

Screening for Atherosclerotic Cardiovascular Risk Factors in Adults With Congenital Heart Disease

Testing Frequency
Diet and physical activity NA Yearly
Tobacco NA Yearly
Hypertension Office blood pressure measurement and/or ambulatory/home blood pressure monitor Yearly
Obesity Weight, height, and BMI Yearly
Dyslipidemia Fasting lipid panel Every 5 year
DM Fasting plasma glucose, oral glucose tolerance test, or hemoglobin A1c Every 3 y in adults ≥45 y of age or ≤45 y of age with BMI ≥25 kg/m2 and risk factors for DM
PAD Ankle-brachial index Insufficient evidence but can consider in patients with DM or an additional cardiovascular risk factor
BMI indicates body mass index; CHD, congenital heart disease; DM, diabetes mellitus; NA, not available; and PAD, peripheral artery disease.

Prognosis

The prognosis of patients with congenital heart diseases has improved considerably over the few past decades due to advancements in surgical techniques. The prognosis post surgical correction depends on the following factors:

  • Hemodynamic status
  • Presence of residual defects
  • Condition of myocardium
  • Presence of cardiac electrical instability

In recent years there has been significant decrease in surgical mortality. There has been a marked improvement in hemodynamic function. The recent decrease in non-electrical complications post surgery has shifted the focus towards decreasing complications due to defects in conduction system (induced post surgery). Recent studies have shown that increased efforts are required to protect the conduction system more specifically, His bundle.[1]

References

  1. ↑ Krongrad E (1978). “Prognosis for patients with congenital heart disease and postoperative intraventricular conduction defects”. Circulation. 57 (5): 867–70. PMID 346255.

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Diagnosis

Diagnosis

Diagnostic Criteria | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | MRI | CT | Echocardiography | Prenatal Ultrasound | Other Imaging Findings

Treatment

Treatment

Medical Therapy | Surgery | Prevention | Outcomes | Reproduction

Case Studies

Case Studies

Case #1

Related Chapters

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