Approach to history in Congenital heart disease

Presenting complaints

Cyanosis
Feeding difficulties
Failure to thrive
Difficulty in breathing
Recurrent lower respiratory tract infections(LRTI)
Oedema
Chest pain
Syncope
Exercise intolerance
Easy fatiguability

Symptoms based of age

1. 1. Cyanosis and history of spells

   A. Appearance of Cyanosis

   (i)d TGA – day 1 cyanosis

   (ii)Truncus arteriosus – 1^st week of life

   (iii)TOF – few weeks after birth

   (iv)Ebstein anomaly – biphasic

   B. Cyanotic Spell

   (i)Time of occurrence /aggravativing  factors – exercise, crying, feeding, bladder and bowel movements/relieving factors

   4-12 months of age

   Rare beyond 2 years

   Causes – TOF/TOF physiology/Pulmonary atresia with VSD

   (ii)Cyanosis with cyanotic spell

   (iii)Cyanosis without cyanotic spell

   (iv)Postural adaption in cyanotic spell

   C. Squatting

   Squatting equivalents—>

   Sitting with legs drawn underneath

   Lying down

   Cross the leg when standing

   Sitting on the chair with flexed legs

   Baby sitting on the mothers hips with legs flexed

   2. Heart failure

   A. Apperance of Heart failure

   (i). 1^st day of life : large AV fistula , congenital severe PR , Premature infant with large PDA, pinpoint AS with hydrops fetalis .

   (ii)1^st week of life : CoA, critical AS, critical PS

   (iii)1^st month of life: CoA with large PDA , large VSD, large PDA , AV septal defect

   (iv)6 months of life: VSD with PDA or without PDA, ALCAPA, Aortoventricular tunnels .

   (v) 1 year of life: Large VSD , AV septal defect

B. Classification

Modified classification of  heart failure by Ross

Class 1 –  no limitations of symptoms

Class II – mild tachypnea or diaphoresis with feeding in infants

               dyspnea on exertion in older children

               no growth failure

Class III – Marked tachypnea or diaphoresis with feeds or exertion

                prolonged feeding times

               growth failure from congestive heart failure

Class IV – symptoms at rest with tachypnea, retractions , grunting or

                diaphoresis .

C. Feeding difficulties

(i) Common in acyanotic congenital heart disease

(ii) Infants with heart failure – longer time to feed, more frequent feeds , get tired easily

(iii) Tachypnea, forehead sweating

(iv) Irritable , excessive crying

(v) Suck rest suck cycle

D. Failure to thrive

(i) Weight < 3^rd percentile for age

(ii) Rate of weight gain is more delayed than height gain .

(iii) Inadequate calorie intake due to breathlessness during feeding / excessive energy

E. Respiratory distress

(i) Sign of heart failure due to L – R shunting

(ii) Rapid breathing with chest retractions

(iii) Grunting and nasal flaring

(iv) Older children – shortness of breath , orthopnea, PND

F. Other symptoms of heart failure

(i) Edema of legs/back/pedal edema /facial puffiness

(ii) Pain the abdomen due to tender hepatomegaly

(iii) Oliguria

(iv) Chest pain

3. Easy fatilguability

(i) Fatigue on exercise or exercise intolerance vs dyspnea

(ii) Infants – poor ability to suck and feed

(iii) Older children – difficulty in keeping up with peer during sports / nap after coming from school

(iv) Age specific activities – h/o fatigue

4. Recurrent LRTI

(i) 2 episodes in one year / 3 episodes in a time frame needing hospitalisation and IV antibiotics

(ii) Frequent in infants

(iii) Increased PBF : L – R shunt

(iv) Ask for :

Number of episodes per month

Severity

Whether associated with fever or not

Hospitalisations /treatment

(v) Mechanisms – Compression of the adjacent bronchi and bronchioles by enlarged PA due to increased PBF causing

Microatelectasis

Goblet cell hyperplasia

Structural defects of cilia due to various infections

Decreased immunity – a/w syndrome

Blood pooling in the lungs

5. Other Symptoms

Chest pain

(i) Barlow syndrome : chest pain associated with palpitations , dizziness and panic attacks

(ii) LVOT obstruction – chest pain a/w dizziness and fatigue

(iii) Pulmonary stenosis

(iv) Abnormal coronary artery – coronary artery fistula, stenosis , ALCAPA

(v) Very rapid paroxysmal tachycardia

Syncope – Severe PS, Severe AS, HCM , PAH, Long QT syndrome, ccTGA(bradycardia)

H/O fever

(i) Infective endocarditis

(ii) Myocarditis

(iii) Rheumatic fever

(iv) Kawasaki disease

(v) Brain abscess associated with cyanotic CHD

Palpitations – Tachyarrhythmias(ebsteins anomaly), regurgitant lesions

Thromboembolic manifestations

(i) Visual disturbances and black outs

(ii) Convulsions

(iii) Neurological deficits

(iv) Syncope

(v) Possible diagnosis : TOF with cerebral abscess/ Cardio embolic stroke – PFO ASD

Dysphagia – Double aortic arch, Anomalous origin of right subclavian artery

6. Maternal history

A. H/O TORCH infections :

(i) Rubella – PDA, pulmonary artery branch stenosis , pulmonary valvular stenosis, VSD

(ii) Mumps – Endocardial fibroelastosis

(iii) Coxsackie virus, CMV, Herpesvirus – Myocarditis

(iv) History s/o TORCH

Fever with rash in 1^st trimester

Painful swelling behind the ears

(v)Maternal Influenza infection in first trimester

B. Maternal Disease

(i) DM – VSD / hypertrophic cardiomyopathy, PS, PDA, TGA

(ii) SLE – CHB

(iii) PKU – VSD, ASD, PDA

C. H/O exposure to drugs

(i) Phenytoin – PS, AS, CoA, PDA

(ii) Lithium – Ebstein’s Anomaly

(iii)Retinoic acid – Conotruncal anomalies

(iv) Valproic acid – ASD, VSD, AS, CoA, pulmonary atresia with intact IVS

(v)Progesterone and Estrogen – VSD, TOF, TGA

(vi) Trimethadone – VSD, PS, TGA, TOF, HLHS

D. H/O other exposures

(i) Smoking – PDA, prematurity

(ii) Marijuana , cocaine – VSD

(iii)Alcohol Intake

0.5 to 2 cases per 1000 live births

29 % fetal alcohol syndrome has CVS involvement.

Septal defects around 21%, other structural defects 6% and unspecified defects was 12%

Exposure :(BAC) greater than 100 mg/dL delivered at least weekly in early pregnancy.

E. Exposure to Radiation

F. History of Still birth/ Spontaneous Abortion

7. Birth history

(i) Full term / preterm /preterm babies – PDA

(ii) LBW – commonly have cong heart diseases

(iii) Large for gestational Age – IDM – TGA

(iv) Progress of labour/Method of delivery/ APGAR score/delay in clamping umbilical cord/Asphyxiation during labor or delivery

(v). Sex

Boys – CoA, AV stenosis, TGA

Girls – ASD, PDA

8. Development history

(i) Down syndrome is a/w endocardial cushion defects , conotruncal anomalies , VSD and PDA

(ii) Williams syndrome – a/w supravalvular AS

9. Family history

Incidence of CHD – 8/1000 Live Births

(i)If one sibling is affected, risk is – 4%

(ii) Two Sibling affected – 8%

(iii)If father is affected – 3%

(iv) If mother is affected – 6%

(v) Maternal age at conception – > 35 yrs –Downs syndrome

(vi) Age of the father – > 40 yrs – Marfans syndrome – AR

(vii) Monozygotic(higher risk of CHD) vs Dizygotic twins

(viii) Consanguinity – increased risk of CHD

(ix) Syndromes in parents/immediate relatives – 8 % have genetic/ chromosomal basis