>> A LOT OF TIMES, OUR FAMILIES COME IN,
AND THEY'RE JUST CONSCIENTIOUS OF GETTING
THE HEART ADEQUATELY DIAGNOSED.
AND WHAT HAPPENS IS ONCE THEY'RE EVALUATED BY OUR
TEAM, BY OUR GROUP OF PHYSICIANS AND THE NURSE
COORDINATOR, THEY'RE GIVEN A LITTLE BIT MORE INFORMATION.
AND THEY'RE STRONGLY ENCOURAGED TO HAVE OTHER
TESTING DONE.
AND THAT MIGHT BE AN AMNIOCENTESIS WITH A FULL
GENETIC WORKUP FOR 22Q DELETION.
THEY MIGHT HAVE A FETAL MRI.
THEY MIGHT HAVE A MORE INVOLVED FETAL ULTRASOUND.
>> TETRALOGY OF FALLOT IS A RELATIVELY COMMON FORM
OF CONGENITAL HEART DISEASE, AND IT CAN BE ASSOCIATED
WITH OTHER FORMS OF CONGENITAL ABNORMALITIES.
>> AT THIS POINT, SPECIFICALLY WHAT WE KNOW
ABOUT THE GENETIC BASIS OF TETRALOGY OF FALLOT IS THAT
ABOUT 7 PERCENT OF THOSE CHILDREN WILL HAVE TRISOMY 21,
SO THEY HAVE A COMPLETE EXTRA COPY OF A CHROMOSOME 21.
WE ALSO KNOW THAT ABOUT 15 PERCENT OF THOSE CHILDREN WILL BE
MISSING A PIECE OF CHROMOSOME 22,
NOW CALLED THE 22Q11 DELETION SYNDROME.
>> THIS ABNORMALITY CAN RESULT IN THE PRESENCE
OF TETRALOGY OF FALLOT, AND IT CAN ALSO RESULT IN SOME
OTHER TYPES OF ANOMALIES INCLUDING CLEFT LIP
OR PALATE, ABNORMALITIES OF SPEECH OR PHONATION,
AND IN SOME PATIENTS, EVEN DEVELOPMENT OF LEARNING
DIFFERENCES OR LEARNING DIFFICULTIES.
>> SO YOU CAN SEE THAT THE GENETIC BASIS OF THESE
DISORDERS CAN ENCOMPASS EITHER A COMPLETE CHANGE IN
CHROMOSOME NUMBER, LIKE HAVE A COMPLETE EXTRA COPY
OF A CHROMOSOME; IT CAN BE A MISSING PART OR A DUPLICATED
PART, EXTRA PART OF A CHROMOSOME;
OR IT CAN BE A SMALL CHANGE IN A SPECIFIC AND SINGLE GENE.
>> IT'S ONE THING FOR US TO SAY WE CAN FIX THE HEART,
BUT IT'S ANOTHER THING TO SAY,
SURE, WE FIXED THE HEART, BUT THERE'S ALL THESE OTHER
QUESTIONS THAT REMAIN TO BE ANSWERED.
>> WE TREAT TETRALOGY OF FALLOT IN THE SAME WAY IN
THESE PATIENTS THAT HAVE THESE VARIOUS OTHER
ASSOCIATED ANOMALIES, BUT CERTAINLY IT PLACES THINGS
IN A LITTLE BIT OF A DIFFERENT CONTEXT.
SOME OF THE PATIENTS WHO HAVE THESE ASSOCIATED
ANOMALIES MAY REQUIRE ADDITIONAL CARE
AND INTERVENTION IN THE INTENSIVE CARE UNIT.
THERE MIGHT BE A NEED FOR A BIT MORE ATTENTION
OR PERHAPS A BIT OF A LONGER STAY WHEN THESE CHILDREN
UNDERGO THESE VARIOUS SURGERIES.
>> SO IT'S IMPORTANT TO KNOW IF THERE'S OTHER ANOMALIES
BECAUSE IT GIVES A MORE COMPREHENSIVE PICTURE
TO THE PARENTS OF WHAT THIS BABY IS GOING TO BEHAVE
LIKE POSTNATALLY.
>> BABIES WITH TETRALOGY OF FALLOT OFTEN DO EXTREMELY
WELL AFTER BIRTH.
>> MOST CAN SAFELY DELIVER THROUGH A VAGINAL MEANS.
WHEN DELIVERED, HOWEVER, AND WHEN SEPARATED FROM
THE PLACENTA AND NO LONGER RECEIVING OXYGENATED BLOOD
FROM THE MOTHER, WE NOW PLACE THE TASK OF
OXYGENATION UPON THE LUNGS OF THE NEWBORN.
>> IF THEY HAVE ENOUGH BLOOD FLOW AT THE TIME OF BIRTH
SO THAT THEY DON'T NEED AN URGENT OPERATION,
WE'LL HAVE AN ELECTIVE OPERATION SOMEWHERE BETWEEN
TWO AND SIX MONTHS OF LIFE.
>> AND THOSE BABIES ARE JUST LIKE ANY OTHER BABY.
THE ISSUES REALLY ARE FEEDING AND GROWING.
>> BECAUSE TECHNICALLY, FOR THE SURGEON,
THEY COULD DO IT WHEN THE BABY IS FIRST BORN.
IT'S REALLY NO DIFFERENT THAN DOING IT WHEN THE BABY
IS 3 MONTHS OF AGE.
IT'S JUST, FOR US TAKING CARE OF THE BABY IN THE ICU,
YOUR HOSPITALIZATION IS MUCH SHORTER IF YOU'VE ALREADY
BEEN AT HOME, YOU'VE LEARNED HOW TO EAT,
YOU'VE GONE THROUGH THAT NEWBORN PERIOD.
THEN IF YOU COME BACK WHEN YOU'RE 3 TO FOUR 4
OF AGE FOR SURGERY, YOUR RECOVERY TIME
IN THE HOSPITAL IS VERY SHORT AS COMPARED TO IF YOU'RE
A NEWBORN.
>> NOWADAYS, BECAUSE SURGERY HAS DEVELOPED SO MUCH,
WE CAN REPAIR THIS HEART DEFECT VERY ROUTINELY
SOMEWHERE BETWEEN TWO AND FOUR MONTHS OF AGE.
SO THAT'S WHEN WE NOW ELECTIVELY REPAIR
TETRALOGY OF FALLOT.
>> IN PATIENTS WITH A BIG VSC,
WITH SERIOUS OVERRIDING OF THE AORTA AND SERIOUSLY
STENOTIC PULMONARY VALVE, WE KNOW THAT,
UNFORTUNATELY, THAT PATIENT ISN'T GOING TO HAVE
THE LIBERTY OF WAITING FOR LIKE, SAY,
A REPAIR AT 3 TO 6 MONTHS.
>> FOR MANY CHILDREN WITH COMPLEX HEART DISEASE,
THERE'S BLOCKAGE OF THE BLOOD EITHER GOING TO
THE BODY OR TO THE LUNGS.
AND THERE'S A BLOOD VESSEL CALLED THE DUCTUS ARTERIOSUS
WHICH CONNECTS THOSE TWO ARTERIES.
EVERYBODY HAS ONE, AND IT USUALLY CLOSES AFTER BIRTH.
>> YOU CAN KEEP THAT BLOOD VESSEL OPEN WITH
A MEDICATION CALLED PROSTAGLANDINS.
AND SO, THEREFORE, BY GIVING A BABY PROSTAGLANDINS,
YOU'RE ACTUALLY REPLICATING THE SAME PHYSIOLOGY THAT IT
HAD IN THE UTERUS, WHEN IT WAS VERY STABLE,
TO WHEN IT'S OUTSIDE THE UTERUS.
>> ABOUT HALF OF THE CHILDREN WHO ARE BORN WITH
TETRALOGY OF FALLOT HAVE A MORE COMPLICATED FORM OF
TETRALOGY WHERE NOT ONLY IS THERE A HOLE BETWEEN THE TWO
PUMPING CHAMBERS OF THE HEART,
AND NOT ONLY IS THERE A NARROWING GOING OUT TO
THE LUNGS, BUT ACTUALLY THERE'S NO CONNECTION AT ALL BETWEEN
THE HEART AND THE BLOOD VESSELS IN THE LUNGS.
AND THAT'S CALLED TETRALOGY OF FALLOT WITH PULMONARY
ATRESIA.
>> OBVIOUSLY, IF WE KNOW THERE'S A COMPLETE BLOCKAGE,
OR PULMONARY ATRESIA, WE KNOW THE BABY WILL NOT HAVE
BLOOD FLOW TO THE LUNGS AFTER BIRTH IF THE DUCTUS CLOSES.
SO WE HAVE TO INITIATE PROSTAGLANDIN THERAPY
TO KEEP THE DUCTUS OPEN.
>> WHEN THE DUCTUS ARTERIOSUS REMAINS OPEN,
THAT CAN PROVIDE AN ADDITIONAL SOURCE OF BLOOD
FLOW TO THE LUNG AND, THEREFORE,
ALLOW A PERIOD OF STABILITY AND ADEQUATE OXYGENATION
UNTIL THE BABY MAKES ITS WAY TO SURGERY.
>> SOMETIMES THEY'RE BORN WITH A DIAGNOSIS WHERE WE'RE
NOT SURE IF THEY'RE GOING TO NEED SURGERY IN THE NEWBORN
PERIOD.
AND SO THOSE BABIES ARE OFTEN STARTED ON
A PROSTAGLANDIN MEDICATION IN THE DELIVERY ROOM,
WHICH STABILIZES THE BABY SO THAT IF THERE'S ANY
PROBLEMS, THEY WON'T OCCUR IN THE DELIVERY ROOM.
AND WE BRING THE BABY TO THE ICU,
AND WE STOP THE PROSTAGLANDINS,
AND WE LET THE BABY TRANSITION TO BEING A BABY
SEPARATE FROM BEING IN THE UTERUS.
AND WE WATCH VERY CAREFULLY AND SEE HOW THE CHILD DOES.
AND FOR SOME OF THOSE CHILDREN,
THEY NEED THE PROSTAGLANDINS RESTARTED BECAUSE,
IN FACT, THEY DO NEED TO HAVE THEIR SURGERY BEFORE
THEY GO HOME.
AND FOR OTHER CHILDREN, THEY'RE ACTUALLY OKAY,
AND THEY CAN GO HOME AND COME BACK AT A LATER DATE.
>> SO NOT EVERY BABY WHO HAS A PRENATAL DIAGNOSIS
OF TETRALOGY OF FALLOT WILL NEED AN IMMEDIATE
URGENT OPERATION.
IF POSSIBLE, IF THEY HAVE ADEQUATE PULMONARY BLOOD
FLOW, WE WILL LET THEM-- WE WOULD LIKE TO LET THEM
GROW FOR A COUPLE MONTHS BEFORE THEY HAVE THE SURGERY.
SO THEY WOULD BE BORN.
THEY WOULD COME TO THE CARDIAC INTENSIVE CARE UNIT.
THEY WOULD HAVE AN ECHO TO CONFIRM THE DIAGNOSIS.
WE WOULD WATCH THEM TO BE SURE THAT THEY HAD ENOUGH
BLOOD FLOW TO THE LUNGS AND THEN LET THEM START TO EAT
AND HOPEFULLY GO HOME AND COME BACK FOR AN ELECTIVE
OPERATION AT 2 TO 3 MONTHS OF AGE.