Marfan Syndrome and Pregnancy
Risk
C.H.D.
stands for
CONGENITAL HEART DISEASE
MOTHERS CHD- % OFFSPRING CHD
ONLY CONCERNED with
STRUCTURAL DISORDERS
NOT Congenital ARRYTHMIAS
NOT Congenital Myocardial disorder
Myocardial disorder often with CHD in
syndromes
MOTHERS CHD- % OFFSPRING CHD
WHAT is REAL INCIDENCE overall
?
3-9 %
PROBLEMS and VARIABLES
MOTHERS CHD- % OFFSPRING CHD
VARIABLES
Time/Methods/Who detection
VARIABLES
In MOTHER
MOTHERS CHD- % OFFSPRING CHD
VARIABLES Time
• FETAL SCAN
• OFFSPRING post natal
• PEDIATRIC CARD + FETAL ECHO
• LONGIT. STUDIES – 10 yrs
RETROSPECTIVE or PROSPECTIVE
ALL MAKE DIFFERENT INCIDENCE
MOTHERS CHD- % OFFSPRING CHD
VARIABLES Time/Methods/Who
• General scan
• Specific fetal echo
• Machinery
• Experience
OUTCOMES DIFFER
MOTHERS CHD- % OFFSPRING CHD
VARIABLES Time
FETAL SCAN misses mild lesion
As can infant echos.
Lack of info on hearts of abortions
MAKE INCIDENCE CHD
MOTHERS CHD- % OFFSPRING CHD
VARIABLES In MOTHER
• in PREGNANCY
• HERSELF
Both affect outcomes
MOTHERS CHD- % OFFSPRING CHD
90-95%
will not have
CONGENITAL HEART DISEASE
CHD HAVE INCREASED x4 -?8 GENETIC POOL
Effects of this is:
Neutralised by fetal scanning ABORTION
DECREASE
MOTHERS CHD- % OFFSPRING CHD
VARIABLES MOTHER - HERSELF
• FATHER
• OTHER FAMILY CHD
• SYNDROMES MOTHER OR FAMILY
• CONSANGUINITY
• DRUGS, ALCOHOL, THERAPY
• DISEASES
• CHD
• EFFECTS of CHD [low output, cyanosis]
• AGE
MOTHERS CHD- % OFFSPRING CHD
VARIABLES MOTHER -
FATHER
OTHER family affected
Consanguinity
SYNDROMES MOTHER OR FAMILY
DRUGS, ALCOHOL, THERAPY
DISEASES
AGE
EFFECTS of CHD [low output, cyanosis]
MOTHERS CHD- % OFFSPRING CHD
VARIABLES MOTHER -
FATHER her choice? Is he ?
• AGE does not influence
• Lower incidence affected CHD cf mothers
• BEWARE if SYNDROMIC
Pregnancy + Congenital Heart Desease
Incidence of CHD in Offspring
TOTAL MOTHER FATHER
4,10 % 5.00 % 2.00 %
Fallot 2.50 % 1.50 %
LV obstruction 10 - 18% 3.00 %
VSD 6.00 % 2.00 %
ASD 4.50 % 1.50 %
MOTHERS CHD- % OFFSPRING CHD
VARIABLES MOTHER
• OTHER FAMILY MEMBERS
CONSANGUINITY
• Considerable increase in incidence if 1 or more
Lesions NOTalways concordant -
CONSANGUNITY increases incidence
Pitkin et al.1990 Ann. Int. Med
• Nora 1988 Amer J Med Genetics
• Nora 1987 Amer J Cardiol
MOTHERS CHD- % OFFSPRING CHD
VARIABLES MOTHER-SYNDROMES
INCREASES
TURNERS
DOWNS
All FUNNY FACES
CHROMOSOME ABNORMALITIES USUAL
MOSTLY SIMPLE CHD ANOMALIES
MOTHERS CHD- % OFFSPRING CHD
VARIABLES MOTHER - HERSELF
• FATHER
• OTHER FAMILY CHD
• SYNDROMES MOTHER OR FAMILY
• CONSANGUINITY
• DRUGS, ALCOHOL, THERAPY
• DISEASES
MOTHERS CHD- % OFFSPRING CHD
VARIABLES MOTHER Diseases, drugs,
INCREASES
Diabetes, Epilepsy, Thyroid,
specific INFECTIONS (CMV, Rubella, HIV)
Lithium, ?/ anti epileptics
ALCOHOL
MOTHERS CHD- % OFFSPRING CHD
VARIABLES MOTHER
• FATHER
• OTHER FAMILY CHD
• SYNDROMES MOTHER OR FAMILY
• CONSANGUINITY
• DRUGS, ALCOHOL, THERAPY
• DISEASES
• CHD-LESION
• EFFECTS of CHD [low output, cyanosis]
• AGE
MOTHERS CHD- % OFFSPRING CHD
VARIABLES MOTHERCHD - LESION%
ASD 2
Fallot 3
CCtga 3.6
AV def. 8
VSD 3
AVst. 4
Coarct 3.6
TGA 1
Cyan. 4 Dreuthen et al. 2007 JACC
96 PREGNANCIES
41 (43%) 55 (57,3%)
SURVIVORS SPONT ABORTION
26 (27%) 15 (15,6%)
PREMATURE
AT TERM 1 CHD 1 CHD
2% but ? CHD in spont abortions could be 5 %
Pregnancy and Cyanotic Congenital
Heart Desease
MOTHERS CHD- % OFFSPRING CHD
LEFT HEART ANOMALIES
CAN BE
HERITABLE
Includes Hypoplastic Left Heart
syndrome,
bicuspid aortic valve (BAV)
HLHS in offspring of mothers with BAV
? Offspring of mothers with HLH
CONCLUSIONS
MOTHERS CHD- % OFFSPRING CHD
• MANY VARIABLES AFFECT INCIDENCE
• VARIES WITH LESION IN MOTHER
• OVERALL INCIDENCE 3-8 %
• EXPERT FETAL ECHO FOR “AT RISK”
MOTHER WITH CHD
VITAL
AT RISK MOTHERS CHD
OFFSPRING CHD
WRONG TO ADVISE CONTINUE
PREGNANCY
IF SEVERE, COMPLEX CVS
MALFORMATION
May ONLY HAVE 1 CHANCE
Define
MOTHERS CHD- % OFFSPRING CHD
??
PRECONCEPTION COUNSELLING
Could REDUCE
C.H.D. in OFFSPRING
MOTHERS CHD- % OFFSPRING CHD
C.H.D. in OFFSPRING
GENETIC & ENVIRONMENTAL
MULTIFACTORIAL!
Nora - 1968
MOTHERS CHD- % OFFSPRING CHD
??
CHOICE OF FATHER
Could REDUCE
C.H.D. in OFFSPRING
What is in the
geans ?
ADIOS VALENCIA