6 months old baby with weight of 4.5 kg is admitted because of breathlessness of 5 days duration. He used to get pneumonia every other month according mother. Mother is healthy .her child with was 3 kg. At first immunization doctor was not impressed with the weight 3.4 kg
Then onwards child used to get respiratory infection. He was going wt at slow pace . He used to cry alot during feeding especially after being fed for a minute ot two. He sweats a lot and is often irritableAt 3 rd month he was diagnosed to have a heart disease .she is on top tablets for heart ailment.
No h/o bluish discoloration or prolonged fever
Mother had regular checks up but had only one scan
No family member had congenital heart disease
Immunised for age
Dietary history show s a calorie deficit of 300 calories and protein deficit of 5 gm
No smokers at home. Low socioeconomic status
They are included under hridyam scheme
P/e
Sick looking
Tachypneic
Retraction
Spot 92%,pr150/mt.bp 84/60,temp 37.5
No dysmorphism
No polydactly
No skeletal deformities
Pulse nl
Bp no
Jvp could not assessed
precordium pulsation+
apex Lt 5th ic space(palpation)
Lph+
S1 no s2 loud
3/6 systolic murmur
Liver span 7cm
chest crackle diffuse
cns nad
What are the key symptoms in ACHD?
Feeding difficulties
Recurrent respiratory infections
Failure to gain weight
Respiratory distress
(Tachypnea ,chest Retraction)
Easy fatiguability
when do ACHD present?
Acyanotic congenital heart diseases may present with signs of congestive heart failure and/or heart murmurs that are heard during physical examination and can manifest any time during infancy or early childhood.
Most of these patients present during the first 6months of life,when the shunt or obstruction overwhelms the cardiac compensation and function
Shunt lesions classically present at 3-to 6wks .pvr drops between 2 to 8weeks
Obstructive and regurgitant lesions present at first week or later depending on severity
How do you classify ACHD?
Shunts-pretricuspid and post tricuspid
Obstructive
regurgitant lesions
will ACHD in first week of life?
Coarctationaortic stenosis or mitral or pulmonary regurgitation can present at in first week
What modified Ross classification?
Class I
No limitations or symptoms
Class 2
Mild tachypnea or diaphoresis with feeding in infants Dyspnea on exertion in older children No growth failure
Class 3
Marked tachypnea or diaphoresis with feeds or exertion Prolonged feeding times Growth failure from congestive heart failure
Class 4
Symptoms at rest with tachypnea, retractions, grunting or diaphoresis
What is nadas criteria?
Why maternal h/o is important ?
A maternal history of acute illness or exposure to drugs especially inthe first trimester or any chronic illness in the mother may provide an etiological information. The history should include:
a. Exposure to drugs (lithium, phenytoin, thalidomide)
b. Alcohol intake
c. TORCH infections especially rubella
d. Maternal diseases like diabetes mellitus, systemic lupus erythematous, phenylketonuria
e. Exposure to radiation.
List two specific disease causing chd
Diabetes mellitus—VSD/hypertrophic cardiomyopathy, pulmonary stenosis, PDA, TGA
• Systemic lupus erythematosus—complete heat block
• Phenylketonuria—VSD, ASD, PDA
List 4 drugs causing chd
Retinoic acid—conotruncal anomalies • Valproic acid—ASD, VSD, AS, CoA, pulmonary atresia with intact IVS
Phenytoin (Dilantin)—PS, AS, CoA, PDA
Alcohol (fetal alcohol syndrome)—VSD, PDA
Lithium—Ebstein’s anomaly
List 2 congenital infection producing chd?
Rubella—PDA, pulmonary artery branch stenosis, congenital rubella syndrome • Mumps—endocardial fibroelastosis
Which are the common extra cardiac anomalies?
wide spectrum of extracardiac malformations occur in 15-45% of cases with CHD. Extracardiac malformations can give a clue towards certain CHD. One should look for physical deformities likepolydactyly,fingerizedthumb(Figure1),whichmay indicate atrial septal defect (ASD) or ventricular septal defect (VSD).Hypertelorismdistinctivewebbedneck,lowsetears, micrognathia, malocclusion of teeth, with wide spaced nipples are some of the features seen in Noonan’s syndrome
lymphedema,webbing turner
What is the importance of family history?
A detailed family history at times is rewarding in CHD. If one parent has a congenital heart anomaly, the risk of the child having one (frequently the same type) can be as high
TBX gene can run in family of ASD children as10percent.Whenafirstcousinhasacongenitalheart anomaly, the risk of a sibling having one is approximately 2 percent.With no family history of CHD,if thefirst born has a congenital heart lesion, the risk of a second child having a congenital heart lesion is 2 to 3 percent, slightly higher than the risk for the general population.
What points are to be noted in general examination?
Does the patient show signs of distress (e.g. tachypnea, shortness of breath, clamminess or diaphoresis)?
Is the child responsive, interactive, happy or irritable?
. Is there any change in color (e.g. pallor or cyanosis)?
Are there any dysmorphic features
Are there any obvious skeletal abnormalities of the chest, back or extremities?
Is there a precordial bulge or asymmetry of the chest?
Is the patient age appropriate for height and weight?
What is likely change in anthropometry?
Weight is affected.length and head circumference is affected in genetic condition or iu infection
List 4 dysmorphic syndrome with vsd
Down syndrome (Trisomy 21)—ECD, VSD, ASD
Holt-Oram syndrome—Familial ASD, VSD
Laurence Moon Biedl syndrome—VSD, TOFCarpenter’s syndrome—PDA, VSDSmith-Lemili-Opitz—VSD, PDA
What arethe different types of vsd?
Approximately 80% of ventricular septal defects are perimembranous. And by the three major segments of the muscular septum: namely, the inlet septum, which is lightly trabeculated; the trabecular septum, which is, as the name implies, heavily trabeculated; and the infundibular septum, which is nontrabeculated. The inlet septum is limited by the tensor attachments
How do you assess the size of vsd clinically?
What are the clinical features of small /medium /large defects/eisenmenger?
Small VSD
The small VSD is less than one-third of the size of the aortic root or the orifical area is <0.5 cm2/m2. It is also called restrictive as the size of the defect limits the left to right shunt and there is a significant pressure gradient between the LV and RV. The pulmonary/aortic systolic pressure ratio is <0.3 with a small shunt (Qp/Qs < 1.4:1).The degree of LV volume overload is minimal. There is no tendency to develop increased PVR. But they can develop AR or bacterial endocarditis.
Moderate VSD
The VSD size is said to be moderately restrictive, when it is 1/32/3 of the size of the aortic root or the orifical area is > 0.5 to 1 cm2/m2. They are large enough to permit a moderate shunt, yet small enough to offer some resistance to flow. The pulmonary/ aortic systolic pressure ratio is < 0.66 with a moderate shunt (Qp/Qs > 1.4–2.2:1). The peak systolic pressure difference is ≥ 20 mm Hg between the two ventricles.
They develop moderate left to right shunt leading to volume overload of the left sided cardiac chambers causing LV and left atrium (LA) dilatation and hypertrophy. The RV is not dilated and RV and pulmonary artery pressures may remain low or be moderately elevated. The PVR is low, but variable and rarely progresses to PH.
Large
The VSD is large, when it measures more than 2/3 of the size of the aortic root or the orifical area is ≥1 cm2/m2. It is also called nonrestrictive VSD as there is no resistance to flow across the defect. The pressures in the ventricles are equal and they function as a common pumping chamber with two outlets. The degree of left to right shunt is dependent on the relationship between the pulmonary and systemic vascular resistance. The pulmonary/aortic systolic pressure ratio is >0.66 with a large shunt (Qp/Qs > 2.2:1).
In infants with moderate or large VSDs the decline in the PVR may be delayed for several months. At about 4 to 6 weeks of life, the large left to right shunt causes increased PBF and subsequently increases pulmonary venous return into the LA and ultimately into the LV. This leads to dilatation of LA and LV and increased LV end-diastolic pressure. This is reflected in increased LA pressure and consequently in increased pulmonary venous pressure. The pulmonary overcirculation leads to increase in the pulmonary interstitial f luid and in severe forms may manifest as pulmonary edema. The RV pressure increases and this causes RV dilatation and hypertrophy. The increased pulmonary blood flow raise he pulmonary capillary pressure and there is elevated, but subsystemic PVR, which is variable. Therefore, in a large VSD both pulmonary arterial and venous pressures are elevated.
During the second year of life, the manifestations of congestive heart failure (CHF) decreases as the pulmonary artery pressure increases. As PVR increases and exceeds SVR, right to left shunt occurs. Initially it is mainly during exercise, due to the fall in SVR. Later, the right to left shunt occurs at rest with persistent cyanosis. There is marked fall in PBF with persistent hypoxemia. RV failure finally supervenes.
If a moderate size vsd child has improvement in symptoms,what are the possibilities?
Closing defect
Gasuls effect
pulmonary hypertension
What is the natural history of vsd?
Spontaneous diminution in size or closure.
Development of right ventricular outflow tract obstruction (Gasul’s effect). Development of AR.
Development of left ventricular outflow tract obstruction.
Development of pulmonary vascular obstructive disease.
Infective endocarditis.
What are the features of eisenmenger syndrome?
A large VSD, if left untreated, can result in irreversible damage to the pulmonary arterial tree with development of pulmonary vascular obstructive disease (PVOD) and Eisenmenger’s syndrome. The systolic pressure ratio is 1 and Qp/Qs is less than 1 : 1, with a net right to left shunt. There is identical RV and LV systolic pressures and suprasystemic PVR.
What is the chance of spontaneous closure
Spontaneous closure occurs frequently in children and the process continues through adolescence and adulthood.54 The incidence of spontaneous closure in perimembranous and muscular VSDs is high, while it is low in outlet defects
T he natural course of a VSD depends to a large degree on the size of the defect. A significant number (30–50%) of small defects close spontaneously, most frequently during the 1st 2 yr of life. Small muscular VSDs are more likely to close (up to 80%) than membranous VSDs (up to 35%). Most defects that close do so before age 4 yr,
what is gerbode defect?
A Gerbode defect is a rare type of VSD communicating between the LV and RA
The clinical picture of Gerbode defect varies with mixed symptoms related either to the LV to RA shunt or the underlying etiology. In small defects, the shunt is well tolerated and there may be no characteristic symptoms or clinical signs. These defects can remain clinically silent.
In larger defects there may be significant symptoms like failure to thrive, or exercise intolerance and CHF. Physical findings are similar to VSD with a loud harsh holosystolic murmur often associated with a thrill at the left sternal margin in the fourth or fifth intercostal space.73
What is gasuls phenomenon?
Right ventricular outflow obstruction occurs secondary to VSD in 3 to 7 percent.59,60 Gasul et al61 were the first to suggest that large VSD can over a variable period develop hypertrophy of the crista supraventricularis leading to significant infundibular obstruction.
Cyanosis is initially seen with exercise and is intermittent and later becomes persistent. The development of infundibular hypertrophy is one of the factors that may account for decrease in the symptoms of cardiac failure in an infant with a large VSD
What is the mechanism of AR in vsd?
In perimembranous VSDs, aortic cuspal prolapse has been shown to be 14% with progression to AR in 6%.62 In infancy and early childhood only aortic cusp prolapse without AR may be present, but progressive AR may develop. The cause of the aortic cusp prolapse and AR in the doubly committed subarterial VSD is due to the unsupported right coronary cusp with the combined Venturi effect produced by the VSD jet. In early systole, blood is ejected from the LV and is also shunted through the VSD.
The anatomically unsupported coronary cusp and aortic sinus are driven into the RV due to the Venturi effect. The Venturi effect is caused by the high velocity jet passing through the small VSD causing negative pressure. In diastole the intra-aortic pressure forces the aortic valve leaflet to close, but the unsupported cusp (right or noncoronary) is pushed down into the left ventricular outflow tract away from the opposed coronary cusp, resulting in AR
5 yr old child presents with small vsd
How do you proceed?
6 months old child has recurrent reapiratory infection failure to thrive and respiratory distress. Echo shows 5mm vsd aortic size 10mm.
Which all drugs you prescribe?
Diuretics -frusemide spironolactone ,to reduce congestion and cardiac fibrosis
Ace inhibitor- afterload reduction remodelling prevention
What is remodelling?
Left Ventricular Remodeling Ventricular remodeling refers to PART 6 Disorders of the Cardiovascular System the changes in LV mass, volume, and shape and the composition of the heart that occur after cardiac injury and/or abnormal hemodynamic loading conditions. LV remodeling contributes to the progression of HF by virtue of the mechanical burdens that are engendered by the changes in the geometry of the remodeled LV. In addition to the increase in LV end-diastolic volume, LV wall thinning occurs as the left ventricle begins to dilate. The increase in wall thinning, along with the increase in afterload created by LV dilation, leads to a functional afterload mismatch that may contribute further to a decrease in stroke volume.
Moreover, the high end-diastolic wall stress might be expected to lead to (1) hypoperfusion of the subendocardium, with resultant worsening of LV function; (2) increased oxidative stress, with the resultant activation of families of genes that are sensitive to free radical generation (e.g., TNF and interleukin 1β); and (3) sustained expression of stretch activation of hypertrophic signaling pathways.
3 monthsnold child with large vsd has modified Ross 4symptoms. She is on enalapril frusilactone and digoxin
What will you suggest?
Large vsd not responding should undergo surgical intervention
Large VSD: (a) Poor growth/congestive heart failure not controlled with medications (furosemide/spironolactone or enalapril +/- digoxin): As soon as possible; (b) Controlled heart failure: By 6 months of age.
6 months old child with large vsd is on follow up. You note symptom improvement but ecg shows rv hypertrophy
What is your thought?
The presence of RV hypertrophy on ECG is a warning that the defect is not small and that the patient has pulmonary hypertension or an associated lesion such as pulmonic stenosis.
1 yr old perimembranous vsd on follow up
No AR or IE
What should be done?
Small VSD: (No symptoms, normal PA pressure, normal left heart chambers, no cusp prolapse): (a) Annual follow-up till 10 years of age, then every 2-3 years; (b) Closure indicated if patient has an episode of endocarditis or develops cusp prolapse with aortic regurgitation or develops progressive significant right ventricular outflow tract obstruction.
6 old months old muscular vsd og 10 mm is awaiting intervention.they ask an option other than open heart
What is you opinion?
Hybrid surgery is an option
Hybrid surgery is a combined surgical and nonsurgical approach to close MVSDs, especially in infants with low weight. The transcatheter approach for large MVSDs requires large introducing sheath. Hence device closure is not feasible in small infants. Under general anesthesia, hemisternotomy is done with systemic heparinisation. The pericardium is opened. Purse string is taken over the anterior surface of the RV
Through the sheath, the Amplatzer VSD occluder is passed and the LV disc deployed in LV and the device is deployed by releasing the proximal disc in the RV (Fig
5 months old trisomy 21 child is awaiting follow up in your clinic
When are you planning to intervene?
Since PAH can occur independent of chd it is better to operate ealy.4 months is the usual time
7 months old chd child has moderate size vsd . He has tsh value of 20 repeated twice
What to do?2
Congentalnhypothyroidism could occur along with chd. In this child it has to be treated
2r old child with small vsd had one episode of IE
What is the next option?
Small VSD: (No symptoms, normal PA pressure, normal left heart chambers, no cusp prolapse): (a) Annual follow-up till 10 years of age, then every 2-3 years; (b) Closure indicated if patient has an episode of endocarditis or develops cusp prolapse with aortic regurgitation or develops progressive significant right ventricular outflow tract obstruction.
2 yr old has out let vsd .he develops bounding pulse . Bp 90/50 mm he
What is the next step?
Vsd is developing AR
The diagnosis can sometimes be suspected based on the history. The typical murmur of ventricular septal defect is known for years, more likely in a male. Between age 5 years and 9 years, an additional murmur is discovered. The patient gradually becomes aware of neck pulsations, chest pain, diaphoresis, and vigorous precordial movement, especially at night when lying in the left lateral recumbent position. Infective endocarditis, to which the incompetent aortic valve is highly susceptible, dramatically accelerates regurgitant flow,144 and the occasional coexistence of a bicuspid aortic valve increases susceptibility to infection.
What are the x ray findings in vsd?
Chest X-ray is practically normal in small VSDs. Moderate VSDs show cardiac enlargement of varying severity and increased pulmonary vascular markings (PVM) or plethora (). The downward and leftward displacement of the cardiac silhouette is due to LV enlargement. The PVMs are increased in both central and peripheral portions of the lung fields. The main pulmonary artery (MPA) is prominent. LA enlargement is better seen on lateral films. More severe degrees of LA enlargement shows widening of the tracheal bifurcation. In large VSDs, there is generalized cardiac enlargement with increased PVM ). There is prominence of the MPA with RV enlargement. LV apex is displaced posteriorly due to RVH. In large VSDs with PH, the heart size is normal. There is RV enlargement with the cardiac apex rotated slightly upward and to left and posteriorly. There is marked prominence of the MPA and its adjacent vessels with decreased pulmonary vascularity in the outer third of the lung fields or peripheral pruning ). The radiological finding in Gerbode defect is the disproprionate RA enlargement. This huge RA enlargement on the right with RV infundibulum and LV enlargement on the left side, gives a ball shaped appearance to the cardiac silhouette.
.
What are the ecg finding in vsd?
Small VSDs have normal ECG. The permembranous VSDs with septal aneurysm have increased incidence of rhythm and conduction disturbances like atrial f ibrillation, flutter, paroxysmal atrial tachycardia, junctional rhythm and complete heart block.80
Moderate VSDs have sinus rhythm, PR interval is normal or slightly prolonged. The axis is usually normal. In about 8 percent of patients, the QRS axis is leftward, superior and counter clockwise, as in endocardial cushion defects, regardless of size.81 Inlet VSDs have left axis deviation (LAD), when there is a component of atrioventricular septal defect.2 In multiple VSDs, 40 percent can have LAD. There can be broad notched left atrial P waves in L1 and L2 with broad P terminal force in V1. There is varying degrees of LVH. The tall R waves may be associated with tall, peaked T waves in L2, L3 and aVF. The leads V5 to V6 show prominent Q waves, tall R waves and tall, peaked T waves.
In large nonrestrictive VSDs evidence of combined ventricular hypertrophy is common. This is seen in the mid precordial leads as large equiphasic RS complexes (> 50 mm), the “Katz-Wachtel phenomenon” (). There is usually right axis deviation. The biventricular hypertrophy is seen as tall ‘R’ wave in lead V1, deep Q waves, tall R and peaked, tall ‘T’ waves in V5 to V6 (Figure 8). In Eisenmenger complex, the ‘P’ waves are peaked with right sided axis. There is a tall monophasic ‘R’ preceded by small ‘q’ or followed by small ‘s’ wave in V1.
In Gerbode defects there is both biatrial and biventricular enlargement. The tall peaked right atrial P wave in Lead II may be present from infancy. There is rSr in V1, and prominent left precordial q waves, tall R waves, upright T waves indicating biventricular volume overload
What are the echo finding in vsd?
Echocardiography with color Doppler flow evaluation is widely used to diagnose and provide physiologic information about the VSD. The color Doppler allows for as small as 2 mm VSDs, not seen on two-dimensional echocardiography, to be identified. To assess VSD completely, one must not only localize it, but also define its shape and dimensions (, which is accomplished by viewing the defect from multiple imaging planes (). The standard echocardiographic views like apical four chamber view, parasternal long axis view, parasternal short axis view, subcostal sagittal views provide accurate information about the specific anatomical location of the VSD’s. Apical four chamber view is helpful in diagnosing inlet VSD’s, mid muscular and apical muscular defects. Parasternal long axis view demonstrates the perimembranous defects with or without formation of septal aneurysms. Parasternal short axis view at the semilunar valve level images defects in the outlet septum at the 1 o’clock position, defects in the subaortic septum at the 11 o’clock to 12 o’clock positions, and perimembranous defects at the 10 o’clock to 11 o’clock positions. In the parasternal short axis view at the level of the mitral valve, the anterior defects of the trabecular septum are imaged between 12 and 1 o’clock position, mid muscular defects between 9 and 12 o’clock position and the inlet defects between 7 and 9 o’clock position. Multiple defects and any associated cardiovascular anomalies can be recognized (). The rare Gerbode defects are suspected on echocardiography when there is an unusually dilated RA and a high Doppler gradient between LV and RA.
How do you antenatally detect vsd?
In Antenatal echo babys subcostal view is the best one to look at septum
What are the national guideline for intervention in vsd?
Surgery
Device
Hybrid
Indications and Timing of Closure (All Class I recommendations)
Small VSD:
(No symptoms, normal PA pressure, normal left heart chambers, no cusp prolapse): (a) Annual follow-up till 10 years of age, then every 2-3 years; (b) Closure indicated if patient has an episode of endocarditis or develops cusp prolapse with aortic regurgitation or develops progressive significant right ventricular outflow tract obstruction.
Moderate VSD:
(a) Asymptomatic (normal pulmonary artery pressure with left heart dilation): Closure of VSD by 2-5 years of age; (b) Symptomatic: If controlled with medications, VSD closure by 1-2 years of age;
Large VSD:
(a) Poor growth/congestive heart failure not controlled with medications (furosemide/spironolactone or enalapril +/- digoxin): As soon as possible; (b) Controlled heart failure: By 6 months of age.
VSD with aortic cusp prolapse
: Any VSD with cusp prolapse and directly related aortic regurgitation that is more than trivial: Surgery whenever aortic regurgitation is detected.
Contraindications for Closure: Severe pulmonary arterial hypertension with irreversible pulmonary vascular disease (Class III).
Device closure: For VSDs with adequate rims around defect and weight of child >8kg.
What is the follow up?
Recommendations for Follow-up Follow-up after surgery: Clinical, ECG and echo in the first year only. No further follow-up required if no residual defect or pulmonary hypertension.
Patient/ guardians should be explained about reporting to hospital
in case of any cardiac symptoms, or symptoms suggestive of arrhythmias.
Follow-up protocol for device closure:
Anti-platelet agents for total duration of 6 months.
IE prophylaxis:
It is recommended for 6 months after device or surgical closure. However, all patients are advised to maintain good oro-dental hygiene after this period also.
Presented by Dr.Swarna JR 3
Discussed by Drjayaprakash.k.p
Asst pro paediatrics
Ich,GMc kottayam
Superintendent, ICH.
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