Congenital Heart disease -Why & how to diagnose?/

.If some baby was born and now in second pregancy if there is echogenic focus then what to do??   As her first baby dies of cong Heart diseases( CHD):-so followings should be done  Step  A) Referral:-As because she had an unfortunate previous incidence of foetal heart disease who eventually succumbed to CHD(first sibling)  so she should be referred to a foetal medicine specialist and a Paed Cardiologist as well.  Step  B) One can ask for :-Extended foetal echo with colour flow mapping will detect almost 88% of any defect. .  Step  C : Exclude the cause if there be any :-- One can insist on tracking The risk factors for CHD are  Cause 1 of CHD :- Familial :-- the second sibling will be affected at the rate of 2-5%  if first sibling had H disease and if  previous two 2 siblings were affected than the prevalence for 3 rd sibling for having CHD  will be raised to  as high as 10-15%.Cause 2: Maternal DM  , Cause 3:  SLE,, Cause 4:  Phenyl ketonuria, Cause 5: Rubella, Cause 6:  Toxo, Cause 7:  CMV.  May send blood for such diseases or syndromes if affordable.

 One has to search for the any possible cause  like

.One must exclude other anomalies if missed in first anomaly scan due to time constraint or  low cost machine:_ Insist on another anomaly scan as because such Echogenic foci arte sometimes associated with  other one / two soft markers .Ufunfortunately there are other Soft  markers are present the may consider amniocentesis .The following malformations which might be missed in hurry or time constraints should be looked for..Such malformations are D W malformations,  spina bifida, Hydrocephalus, esophageal atresia, Exomphalos, Single Umb artery. Renal agenesis, Diaph hernia.. Non immune   hydrops, Foeatal arrhythmia, Symmetrical FGR,  Polyhydramnios.. Chromosomal   abnormalities. However these echogenic foci often look like “Golf Balls” and are seen in 10% of all normal preg women who were followed for about 10yrs without any increased incidence of heart diseases at the age of infant toddler .Congenital heart diseases accounts for 6-10% of all neonatal deaths and 20-40% of  deaths arising from all Cong abnormlities.The risk factors for CHD are 1) Familial ( the second sibling will be affected at the rate of 2-5%  if first sibling had H disease).and if 2 siblings were affected than the prevalence for 3 rd sibling will be raised as high as 10-15%.Cause 2: Maternal DM  , SLE,, Phenyl ketonuria, Rubella, Toxo, CMV..D W malformations,  Spina bifida, Hydrocephalus, esophageal atresia, Exomphalos, Single Umb

 These echo are generated from mineralization of the papillary ms of left ventricle.. In low risk populations if echogenic cardiac foci ate seen that does not increase the chance of chromosomal abnormalities.

-Congenital heart diseases accounts for 6-10% of all neonatal deaths and 20-40% of  deaths arising from all Cong abnormlities.The risk factors for CHD are 1) Familial ( the second sibling will be affected at the rate of 2-5%  if first sibling had H disease).and if 2 siblings were affected than the prevalence for 3 rd sibling will be raised as high as 10-15%.Cause 2: Maternal DM  , SLE,, Phenyl ketonuria, Rubella, Toxo, CMV..D W malformations,  Spina bifida, Hydrocephalus, esophageal atresia, Exomphalos, Single Umb artery. Renal agenesis, Diaph hernia.. Non immune   hydrops, Foeatal arrhythmia, Symmetrical FGR,  Polyhydramnios.. Chromosomal   abnormalities.

Other  associated malformations are .,

  Red Flag:: An warning:--we the clinicians  Shoud  be aware of the fact that many CHJD are due to aneuploidies and or associated with other somatic defects as detailed below

Kind of heart diseases		Associated Karyotypic  abnormalities		Association with extra cardiac defects
1.                       Arterio Ventricular septal Defects		35-47%		30-50%
2  VSD		37-48%		30-37% of all VSD will have some other extra cardiac abnormalities .
3.Fallot Tetralogy		27%		25-30%
4.ASD		3%		16%
5.Double Outlet Syndrome		12-45% may have aneuploidy		20% will have some other extra cardiac abnormalities
6.Hypoplastic Left heart Syn		4%		11%
7.Truncus Arteriosus Communes		15-30%		15-20%
8.Coarctation aorta	20-30% may have aneuploidy		12-20% will have some other extra cardiac abnormalities
Pulm stenosis	4-5%		20-25%