Case study: Marfan Syndrome detected via telephone consultation in the third trimester of pregnancy

Case discussion

-28 year old female
-Para 1, previous uncomplicated pregnancy and home birth

-Referred for telephone consultation at 31 weeks gestation due to aortic dissection in her Mother and Uncle

-Patient was 183cm tall and questioning revealed long digits and possible pectus carinatum.

-No cardiovascular, ocular or joint symptoms.

Investigations

Echocardiogram was performed at 32+6 weeks and revealed good biventricular function, but severe dilatation of the aortic root of 50mm.

Management

-Referral to a tertiary unit

-Commenced on beta-blockers

-Delivery by uncomplicated Caesarean Section at 33+6 weeks

-Two weeks post delivery underwent valve-sparing  aortic root replacement and coronary artery bypass graft

Aortic root replacement

-Dilated portion of the aorta is removed and replaced with a graft

-Aortic valve is removed and then replaced within the graft

Follow-up

-Post-operative course was turbulent

-MCA territory stroke

-Sever mitral regurgitation requiring a redo sternotomy for valve repair

-Aortic root abscess

-Atrial flutter resulting in pulmonary oedema

-Perforation of anterior mitral valve leaflet with significant mitral regurgitation

-Third surgery for mitral valve replacement at 6 months postnatal

Discussion

-Marfan syndrome is a heritable disorder of connective tissue

-75% of cases are inherited in an autosomal dominant pattern (remainder due to de novo mutation)

-Caused by mutations in the FBN1 gene which codes for the extracellular matrix fibrillin, a major component of connective tissue

-3 main manifestations: 

Proximal aortic aneurysm    Ocular lens disclocation     Overgrowth of long bones

Leading cause of mortality and morbidity os aortic dissection

-Aortic root diameter >40mm carries a 10% risk of dissection in pregnancy

-Management is with beta-blockers and lifestyle modifications, aimed at minimising aortic root dilatation