When ‘blue babies’ grow up: What you need to know about tetralogy of Fallot

Abstract

When 'blue babies' grow up: What you need to know about tetralogy of Fallot ■ AbstrActMost babies born with tetralogy of Fallot undergo corrective surgery and survive to adulthood. However, as they get older they are prone to a number of long-term problems, and they often do not receive expert-level follow-up care. This review of the adult complications of tetralogy of Fallot should help primary care practitioners identify these patients, make appropriate and timely referrals, and educate patients and their families. ■ KEY POINtsThe major long-term complication of tetralogy of Fallot repair is pulmonary valve insufficiency, which leads to right heart failure. Other problems include atrial and ventricular arrhythmias and sudden cardiac death.Surgical pulmonary valve replacement is the standard of care, but the optimal time to do this is unclear.Novel and experimental therapies include percutaneous pulmonary valve replacement and medical therapy with pulmonary arterial vasodilators.hildren born with tetralogy of Fallot and other congenital heart defects are living longer-long enough for new problems to arise, and, eventually, to present to your clinic. In primary care, the presentation of tetralogy of Fallot is still rare, but it is becoming more common.Congenital heart disease was once solely a pediatric specialty, but adults who have been treated for these conditions now outnumber children with congenital heart conditions. [1][2][3][4] More than 85% of infants with congenital heart disease are now expected to reach adulthood. 5,6 For those with tetralogy of Fallot, the most common form of cyanotic congenital heart disease, the 40-year survival rate is now at least 90%. 5But these former "blue babies" eventually have serious problems. Most develop pulmonary valve insufficiency (regurgitation), which, over time, can result in right ventricular volume overload, enlargement, and dysfunction.7-10 These problems lead to arrhythmias, the most significant cause of illness and death in these patients.11-13 Ventricular and atrial arrhythmias occur in up to 35% of patients with tetralogy of Fallot, and over a follow-up period of up to 30 years the incidence of sudden cardiac death is 6%. 14 Furthermore, because many patients have no symptoms in early adulthood, they are often lost to follow-up, potentially missing the opportunity to have complications treated before they become irreversible. Recent data suggest that most patients who present with symptoms had stopped seeing a cardiologist about 10 years before.15 rEVIEW

Loss to specialist follow-up in congenital heart disease; out of sight, out of mind

“…Older patients in particular may have misperceptions about the need for follow-up and a lack of knowledge about potential problems that may arise. 13 Anxiety and ambivalence may be keeping other patients out of follow-up. Others have identified the importance of normalising the clinical experience for adult patients with CHD while avoiding overmedicalising them.…”

Nodal Signaling and Congenital Heart Defects

“…Tetralogy of Fallot is essentially a milder form of DORV in which the aorta overrides the ventricular septum and empties blood from both ventricles [44]. There is also pulmonary artery stenosis and a hypertrophic right ventricle secondary to pulmonary artery blockage associated with tetralogy of Fallot [44]. These defects appear to be independent of overall laterality, although the mechanistic basis for why these defects occur when Nodal signaling is disrupted is unclear.…”

“…DORV, as the name implies, occurs when the aorta and the pulmonary artery connect to the right ventricle. Tetralogy of Fallot is essentially a milder form of DORV in which the aorta overrides the ventricular septum and empties blood from both ventricles [44]. There is also pulmonary artery stenosis and a hypertrophic right ventricle secondary to pulmonary artery blockage associated with tetralogy of Fallot [44].…”

Heart Failure in Adults with Congenital Heart Disease: An Emerging Challenge.

“…Usredotočenost na pojedine probleme kao što su funkcija miokarda rasvijetljena istraživanjima s područja molekularne biologije 109 , hemodinamika, vaskularni neurohormonalni i sistemni odgovori, inovativne kirurške i perkutane intervencije, cirkulatorna mehanička potpora itd. može potaknuti korak unaprijed, ako već ne veliki skok unaprijed kakav je bio dolazak kirurških tehnika koje su omogućile "plavim bebama" da narastu 52 .…”

“…However, the diversity of congenital heart disease is in opposition to unifying concepts 91 . Focusing on certain issues like myocardial performance elucidated by molecular biology research 109 , hemodynamics, vascular, neurohormonal and systemic responses, innovative surgical and percutaneous interventions, circulatory support devices, etc., may incite a push forward, if perhaps not as great a leap forward as was the advent of surgical techniques enabling "blue babies" to grow up 52 .…”