The adult with congenital heart disease

The Adult With Congenital Heart

Disease“ Born to be Bad”?

Dr Asadullah SoomroCosultant CardiologistKing Fahad Hofuf Hospital

Kingdom of Saudi ArabiaEmail, [email protected]

IntroductionThe population of patients with adult

congenital heart disease is approximately 800,000 in the US. Those with prior cardiac surgery often consider themselves

“ CURED”, although the majority faces a lifetime of problems including arrhythmias , ventricular dysfunction and one or more re- operation .Even patient with repaired

“ SIMPLE ” lesion such as an atrial septal defect may not have normal survival if they are repaired in adulthood.

CASE NO 136 year saudi male , father of two small childreen known to

have congenital heart defect since childhood.1403 first time clinically diagnosis of fallots tetralogy was

considered but because of incomplete echo study and relatively well most of his childhood did not seek serious

medical advise for definitive care.September 1994 admitted at KFHH with H/O increasing

symptoms of exertional fatigue ,cyanosis and breathlessness for the last 5 years.

At this stage family insisted for referral to higher center, echocardiogram showed feature of fallots tetralogy hence referred to King Faisal Specialist Hospital, where after full

work up diagnosed to have ,large VSD ,Right Ventricular outflow muscular obstruction with

gradient of 100 – 120mm ,over riding of aorta and RV hypertrophy.

where after full work up diagnosed to have ,large VSD ,Right Ventricular outflow muscular obstruction with gradient of 100 – 120mm ,over riding of aorta and RV hypertrophy.

December 1994 cardiac surgery was done at KFSH Riyadh by “ Total Correction” closure of VSD and resection of infundibular muscle to releive RVOT obstruction.

Oct 2001re-evaluated because of chest pain , palpitations and presyncope.

12 lead EKG showed atrial flutter, 24 hour holter monitor revealed supra- ventricular and ventricular ectopics but no sustained arrhythymias, underwent thallium exercise test did 11 min with inadequate heart rate response, however there was no significant defect suggestive of myocardial ischemia.

He was started on Atenolol and Coumadine and was advised to return after 2 months, with the plan that if atrial flutter persist may be cardioverted.

1423 admitted with road traffic accident with blunt chest trauma.

1426 and on 7.9.1427 admitted at our ccu with H/O dizziness and palpitations EKG showed Paroxysmal A fib and AVNRT.

On 13.4.1428 around 3 pm after retuning from work suddenly felt rapid palpitation, head ache and dizziness ,despite family discouragement to reach hospital quickly drove his car ,on the way to Al Jaffar hospital stopped his car and became unconscious ,later family friends rescued him from the car to hospital where initially he was pronounced to be dead, how ever CPR was started and given life saving medications was in shock and after successful CPR shifted to our hospital .

He was intubated and mechanically ventilated shifted to our ccu shortly after arrival

developed polymorph ventricular tachycardia , cardioverted and reverted to sinus rhythm since than maintaining rhythm CT brain was done evaluated by neurologist and pronounced

be in vegetative state following hypoxic encephlopathy with considerable brain damage.

Cont, Patients with repaired coarctation may have premature cardiovascular complications including sudden cardiac death, myocardial infarction and stroke. They also have aortic complications such as aneurysm and dissection, which results from diffuse arteriopathy and and continued hypertension. In addition bicuspid aortic valve occurs in more than one half of the patients with coarctation .

More complex lesions also pose

problems after “ total correction“.

Patients with repaired Tetralogy of Fallots

often have pulmonary regurgitation which is frequently overlooked on clinical examination& echocardiography .Pulmonary valve must be replaced before the development

of irreversible right ventricular dysfunction and an increased risk of

ventricular tachycardia or sudden cardiac death.

Adults with congenital heart defectsThe last 50 years have witnessed dramatic changes

for the once threatened and limited life of baby born with congenital heart disease. The advances in echocardiograohy , anesthesia, intensive care and particularly cardiac surgery have facilitated the survival of babies born with even the most complex cardiac anomalies .Fifty years ago , only

25% of these infants would survive beyond first

year of life , but now more than 95% will survive to adulthood .This triumph of survival has led to a

“ New population” of adult with congenital heart defects.

Adults with congenital heart defectsSome patients may have mild defects and have

never needed surgery;

In others , the defect may have been missed and may not be discovered until adulthood .

The majority , however, have had previous cardiac surgery and may consider themselves, ” CURED”. The perception of “ CURE” is fostered by surgical description “ Total Correction “. In reality , there is almost no surgical cure for congenital heart disease , perhaps with the exception of a successfully ligated and divided ductus arteriosus.

ATRIAL SEPTAL DEFECTEven the humble ASD has its complexities.

First , not all ASDs need to be closed. As a rule , an ASD worth closing( before 25 years) should be

at least 10mm in diameter and be associated

with clear RV dilatation. ASD closure in the asymptomatic patient has eased greatly now

that device closure of ASD can be done so successfully and easily, but one needs to have

access to a skilled interventional and modern devices to make this promise relevant.

Adults with congenital heart defects

Except PDA all other repaired lesions have the

potential for “ Residua & Sequelae” ,and

although this may be a painful realization for patients and their families , it is a fundamental and important concept .

The “ Misconception of Cure” has potentially serious consequences. Patient may forget to use antibiotic prophylaxis, don’t know the nature of defect and much more importantly , see no need to seek continued medical advice .As a result residual lesions & sequelae are frequently overlooked until patients present with symptoms.

Adults with congenital heart defectsAt the time of first surgical repair of tetralogy of

fallot, the operation has been referred to as “Total Correction” .This misnomer fosters the erroneous belief held by patients that they are “ CURED” and that no further surgical intervention will ever be necessary .this may prevent them from seeking regular cardiac follow- up , so re- operation to replace the pulmonary valve is often performed later than ideal , when RV dysfunction is irreversible and patients are vulnerable to arrhythmias and sudden cardiac death .Resentment is common when patients learn, to their dismay that another operation is necessary.


The patients with congenital heart defects are different from those with acquired heart disease, who usually notice a distinct change in symptoms at onset of their problems, on the other hand patients with CHD having lived with a lifelong cardiac problems, may not detect subtle changes in exercise capacity until they are significant .By the time the patients notice dyspnea & exercise limitation, valvular residua and ventricular dysfunction are often sever and irreversible.


All of these challenges emphasize the importance of impressing on patients, their families, and their physicians that

all cardiac surgery is palliative rather than curative and that patients with congenital heart disease require lifelong follow-up at centers where expertise is available to deal with their complex problems.

Post TOF Repair Pulmonary Regurgitation

Pulmonary regurgitation is tolerated well for many years ,even for decades, but the chronic effects of long term volume overload of PR eventually has a deleterious effect on RV function, exercise capacity declines, secondary tricuspid regurgitation may occur, and supra -ventricular and ventricular arrhythmias may supervene. Sudden death may be the presenting feature .Patients often do not notice symptoms until RV dysfunction is severe


There is also a “Ventricular –Ventricular interaction”, which occurs in the setting of RV enlargement and systolic dysfunction, and concomitant LV dysfunction is often observed.

Pulmonary regurgitation is frequently overlooked on

physical examination, since the diastolic murmur is soft and short because there is rapid equalization of diastolic pressure in the pulmonary artery and RV. The regurgitant get is also frequently missed on Echo because jet has low velocity and the flow is laminar.


Pulmonary valve replacement can be accomplished

with a low surgical risk(1% to 2%) in experienced centers, but should be performed before there is irreversible RV dysfunction and the increased propensity for ventricular arrhythmias and sudden cardiac death.

Timing of pulmonary valve insertion is critical in

reducing RV size, preserving myocardial function and preventing the development of arrhythmias.

Post TOF Repair“Atrial & Ventricular Arrhythmias”

Arrhythmias are also common sequelae of repaired tetralogy. Atrial arrhythmias may be present in approximately one third of patients and are major source of morbidity .Although the prevalence of sustained ventricular tachycardia is low ,it is believed to be responsible for small but definite incidence of sudden death in postoperative patients .Pulmonary regurgitation is the predominant underlying hemodynamic problem. Potential variables predictive of death include older age at repair ,heart failure, residual or recurrent VSD ,and elevated RV pressure.


Holter monitor reliably identifies patients at risk of ventricular tachycardia or sudden death.Right bundle branch block is expected on electrocardiogram in 95% of patients ( larger the RV size the greater the trend toward a longer QRS ( >180ms) duration on EKG.

The issue of weather electrophysiological studies are useful to predict the development of clinical ventricular tachycardia has also not been resolved


Furthermore , no study has conclusively demonstrated that anti- arrhythmic medication improves survival. Thus, risk stratification in postoperative patients after TOF repair remains a

major challenge, and the indication for

implantation of a defibrillator remain imprecise. Targeted arrhythmia procedures at the time of pulmonary valve replacement utilizing intraoperative electrophysiological mapping and

/or cryoablation appear to decrease the incidence of arrhythmias ,at least in the short term


Any patient with previous surgical repair of TOF should have a normal heart size on chest X-Ray, increased cardiothoracic ratio should prompt a thorough search for a residual hemodynamic lesion. This may be a residual Ventricular septal defect, aortic regurgitation, or pulmonary stenosis. The most common

problem ,however is pulmonary regurgitation, and pulm valve replacement is the most common indication for re-operation late after tetralogy repair.

Types of Patients Who should be seen at expert centers

1) Congenital cardiovascular conditions not previously seen in ones practice.

2) Adult congenital cardiovascular patients, With Pulmonary hypertensionWith Poor functional classWho are pregnant or considering becoming soWho are cyanoticWho may have inherited conditionsWith transposition, coarctation, moderate or severe

valve disorders.Adult congenital heart patients with named

conditions.Mustard, Senning, Restelli, Jatane, Fontan, Fallots,

Ebstein, Eisenmenger, Marfan and Holt-oram.

MORE COMPLEX PATIENTS“FEW EXPERT CARDIOLOGISTS”

Thanks to the treatment successes of the past 40 years resulting in the saving of many lives of children with congenital heart disease. How ever there is serious shortage of professionals, including paediatric and adult cardiologists, trained to take responsibility for these adult patients. There are too few centres of excellence to act as the anchors for this care.

CONCLUSIONALL of the lesions discussed exemplify the notion

that babies born with congenital heart disease are

seldom “ CURED” . Cardiologists throughout the world still have little

opportunity for exposure to adult congenital heart disease ,and despite training recommendations , few trainees have the opportunity to see such patients during their fellowship.

Many cardiologists, therefore, have little understanding about the complexities of many

postoperative “Residua and Sequelae”

In conclusion, are these patients “born to be bad”? In many ways ,the answer is

yes. They are seldom “cured” by surgery and continue to have cardiac problems.

Much time , money ,and effort has been devoted to secure their survival, and unfortunately, very little thought has been

given to providing for their long term care. These survivors are extraordinarily courageous and usually, determined to work, contribute to society, and be as normal as possible.

In adulthood , they often receive no care or suboptimal care, perhaps the worst of any cardiovascular subspeciality.

The cardiology community serves them poorly ,and ,as we look to the future we must make provision for lifelong care by trained physicians with expertise in their complex problems.

Health & Medicine

The adult with congenital heart disease