Congenital heart disease natural history, complications and prognosis

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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]


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.


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


Tests: consider DEXA scan

Treatment: calcium and vitamin D supplementation


(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


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.


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]


  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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