marfan-syndrome-diagnosis-2

About a Marfan syndrome Diagnosis

Diagnosis at present relies on a clinical and coordinated evaluation by a cardiologist, ophthalmologist, orthopaedist, and geneticist who are all experienced with Marfan syndrome. Laboratory screening of the Marfan gene, using blood or skin samples, is currently available to identify the presence and familial location of faulty fibrillin protein responsible for Marfan. Advances are currently being made in research to develop an accurate, quick and simple test. For a list of genetic clinics throughout Australia click here.

Tests performed in a Marfan syndrome assessment

  • Physical examination
  • Complete family history by a geneticist
  • Echocardiogram (a sound wave picture of the heart)
  • Eye examination for the detection of dislocated lenses
  • Skeletal examination with X-rays
  • Laboratory screening of the Marfan gene using blood or saliva
marfan-syndrome-treatment

Marfan Syndrome Treatment Options

It is important that a person diagnosed with Marfan syndrome is well informed of their condition and receives customised medical management and treatment. Understanding individual limitations will help the individual to accept relevant lifestyle changes to reduce stress on the body, particularly on the aorta. Advice should be sought from the physician managing the individual’s condition appropriate to their own situation. It is important to know and understand the risks associated with contact sports and specific physical activities. A woman who has a dilated aorta requires specialised counselling about the higher risks involved when considering a pregnancy due to the associated strain on the aorta.

Treatments for Marfan syndrome

  • Annual echocardiogram to monitor size and function of heart valves and aorta
  • Surgical repair of valves and aorta, if necessary
  • Initial eye examination to detect dislocated lenses with regular follow
  • Monitoring of the skeletal system, especially during childhood and adolescence
  • Medication to lower blood pressure, reducing stress on the cardiovascular system
  • Antibiotics prior to dental or genito-urinary procedures, reducing risk of infection in people who experience mitral valve prolapse
  • Lifestyle adaptations such as avoidance of strenuous exercise & contact sports, reducing risk of physical injury
  • Women with dilated aortas require specialised counselling about pregnancy risks due to associated strain on the aorta

For diagnosis and medical management please contact your nearest Clinical Genetics service:

Clinical genetic services

Australian Capital Territory

The Canberra Hospital
ACT Genetic Service
PO Box 11, Woden, ACT 2605
Ph: (02) 6244 2133
Fax: (02) 6244 3021

New South Wales

Metropolitan

Royal Prince Alfred Hospital
Department of Molecular and Clinical Genetics
Missenden Road, Camperdown, NSW 2050
Ph: (02) 9515 5080
Fax: (02) 9515 5490
E: RPAHGene.Clinic@swsahs.nsw.gov.au


Royal North Shore Hospital
Dept of Clinical Genetics
PO Box 63, St Leonards, NSW 1590
Ph: (02) 9463 1727
Fax: (02) 9463 1057


Newcastle Western Suburbs Hospital
Hunter Genetics
PO Box 84, Waratah, NSW 2298
Ph: (02) 4985 3100
Fax: (02) 4985 3105
E: hunter.genetics@hnehealth.nsw.gov.au

St George Hospital
Clinical Genetic Service
Kogarah, NSW 2217
Ph: (02) 9113 3635
Fax: (02) 9113 3694
E: StGeorgeGenetics@sesiahs.health.nsw.gov.au


Nepean Hospital
Clinical Genetics Department
PO Box 63, Penrith, NSW 2750
Ph: (02) 4734 3362
Fax: (02) 4734 2561


The Children’s Hospital
Department of Clinical Genetics
Locked Bag 4001, Westmead, NSW 2145
Ph: (02) 9845 3273
Fax: (02) 9845 3204
E: clingen@chw.edu.au

  • Cardiology – Ph: (02) 9845 2345
  • Ophthalmology – Ph: (02) 9845 2525
  • Orthopaedics – Ph: (02) 9845 2879

Liverpool Health Services
Clinical Genetics Department
Locked Bag 7103, Liverpool, BC NSW 1871
Ph: (02) 8738 4665
Fax: (02) 8738 4650
E: clinical.genetics@sswahs.nsw.gov.au


The Sydney Children’s Hospital
Department of Medical Genetics
High St, Randwick, NSW 2031
Ph: (02) 9382 1704
Fax: (02) 9382 1711


Westmead Hospital
Dept of Genetic Medicine (Area C3b)
Hawkesbury Road, Westmead, NSW 2145
Ph: (02) 9845 9780
Fax: (02) 9845 9789


Regional

Bathurst Health Service
Community Health Centre
Howick Street, Bathurst, NSW 2795
Ph: (02) 6330 5677
Fax: (02) 6331 0474


Greater Western Area Health Service
PO Box 457 Broken Hill, NSW 2880
Ph: (08) 8080 1554
Fax: (08) 8080 1611


Child, Infant and Family Tertiary Service
Locked Bag 15, Goulburn, NSW 2580
Ph: (02) 4827 3950
Fax: (02) 4827 3958


Orange Community Health Centre
96 Kyte Street, Orange, NSW 2800
Ph: (02) 6330 5677 (Appointments Bathurst office)
Fax: (02) 6331 0474


Mid North Coast Area Health
PO Box 35, Taree, NSW 2430
Ph: (02) 6592 9703
Fax: (02) 6592 9607

Greater Western Area Health Service
Dubbo Community Health Centre,
2 Palmer Street, Dubbo, NSW 2830
Ph: (02) 6885 8999
Fax: (02) 6885 8901


Forster Community Health Centre
Breeze Pde, Forster, NSW 2428
Ph: (02) 6539 6300
Fax: (02) 6554 8874


North Coast Area Health Service
Morton Street, Port Macquarie, NSW 2444
Ph: (02) 6588 2882
Fax: (02) 6588 2800


North Coast Area Health Service
Morton Street, Port Macquarie, NSW 2444
Ph: (02) 6588 2882
Fax: (02) 6588 2800


Wagga Wagga Base Hospital
PO Box 159, Wagga Wagga, NSW 2650
Ph: (02) 6938 6443
Fax: (02) 6938 6410

Hunter New England Area Health Service
Tamworth Community Health Centre
Locked Bag 9783 NEMSC 2348
Ph: (02) 6767 8151
Fax: (02) 6766 3967


Central Coast Health
PO Box 361,Gosford, NSW 2250
Ph: (02) 4328 7994
Fax: (02) 4328 7925


Kingscliff Community Health
PO Box 1389, Turnock Street, Kingscliff NSW 2487
Ph: (02) 6674 9500
Fax: (02) 6674 9599


Primary Health Service
Locked Mail Bag 812, Coffs Harbour, NSW 2450
Ph: (02) 6656 7200
Fax: (02) 6656 7203


Northern Illawarra Maternal & Paediatrics Service
Wollongong Hospital
Private Mail Bag 8808, SCMC, NSW 2521
Ph: (02) 4253 4267
Fax: (02) 4222 5477

Northern Territory

There are currently no clinical genetics services offered in the Northern Territory. Support and information may be available through other specialty services, and from a general medical practitioner.

Queensland

Metropolitan

Royal Children’s Hospital and
District Health Service

Genetic Health Queensland
Level 4, Building C28 Back Rd, Herston, QLD 4029
Ph: (07) 3636 1686
Fax: (07) 3636 1987
E: ghq@health.qld.gov.au

Prince Charles Hospital
Jennifer West, Coordinator Cardiovascular / Marfan Genetic Clinic
Rode Road, Chermside, QLD 4032
Ph: 0417 194 162
E: j.west@uq.edu.au


Regional

Bundaberg Base Hospital
Genetic Health Queensland
Bourbong St, Bundaberg, QLD 4670
Ph: (07) 4150 2794
Fax: (07) 4150 2799


Gold Coast Hospital
Genetic Health Queensland
108 Nerang Street, Southport, QLD 4215
Ph: (07) 5519 8741
Fax: (07) 5519 7883

Cairns Base Hospital
Genetic Health Queensland
Cairns, QLD 4870
Ph: (07) 4226 6247
Fax: (07) 4050 6456


Toowoomba Base Hospital
Genetic Health Queensland
Private Mail Bag 2, Toowoomba, QLD 4350
Ph: (07) 4616 6995
Fax: (07) 4616 5596

Nambour General Hospital
Genetic Health Queensland
Cnr Hospital / Mapleton Rd, Nambour, QLD 4560
Ph: (07) 5441 7167
Fax: (07) 5470 5456


Townsville General Hospital
Genetic Health Queensland
Angus Smith Drive, Douglas, Townsville QLD 4814
Ph: (07) 4796 1463
Fax: (07) 4796 1461

South Australia

Metropolitan

Women’s and Children’s Hospital
Children’s Youth and Women’s Health Service
72 King William Road,
North Adelaide, SA 5006
Ph: (08) 8161 7375
Fax: (08) 8161 6088
E: cywhs.sacgs@cywhs.sa.gov.au

Flinders Medical Centre
Royal Adelaide Hospital
Ph: (08) 8161 7375
Fax: (08) 8161 6088
E: cywhs.sacgs@cywhs.sa.gov.au


Regional

South Australian Clinical Genetics Service
Ph: (08) 8161 7375
Fax: (08) 8161 6088
E: cywhs.sacgs@cywhs.sa.gov.au

Tasmania

Tasmanian Clinical Genetics Service
GPO Box 1061, Hobart, TAS 7001
Ph: (03) 6222 8296
Fax: (03) 6222 7961

Victoria

Metropolitan

Royal Children’s Hospital
Flemington Road, Parkville, VIC 3052
Ph: (03) 8341 6270 or (03) 8341 6201
Fax: (03) 8341 6390
E: mcri@mcri.edu.au

  • Cardiology – Ph: (03) 9345 5718
  • Ophthalmology – Ph: (03) 9345 6180
  • Orthopaedics – Ph: (03) 9345 63479

Monash Medical Centre
Genetic Health Services Victoria
Clayton Road, Clayton, VIC 3168
Ph: (03) 9594 2026
Fax: (03) 9594 6022


Victorian Ear and Eye Hospital
Genetic Health Services Victoria
Ph: (03) 8341 6270 or (03) 8341 6201
Fax: (03) 8341 6390
E: mcri@mcri.edu.au

The Royal Melbourne Hospital
Professor Ingrid Winship
Executive Director of Research and Professor of Adult Clinical Genetics
Cardiac Genetics Clinic
Grattan Street, Parkville, VIC 3050
Ph: 9342 7151
Fax: 9342 4267
E: ingrid.winship@mh.org.au


Austin Hospital
1st Floor, Building 6, 300 Waterdale Road
Heidelberg West, VIC 3081
Ph: (03) 9496 3027
Fax: (03) 9496 4385


Alfred Hospital
Genetic Health Services Victoria
Ph: (03) 8341 6270 or (03) 8341 6201
Fax: (03) 8341 6390
E: mcri@mcri.edu.au

The Royal Melbourne Hospital
Genetics Medicine and Familial Cancer Centre
Grattan Street, Parkville, VIC 3052
Ph: (03) 9342 7151
Fax: (03) 9342 4267
E: familycancer@mh.org.au


Murdoch Children’s Research Institute
Ph: (03) 83416200


Cardiac Surgery Austin Health
Ph: (03) 9496 5453
Fax: (03) 9459 6220
E: catherine.heiberg@austin.org.au


Alfred Health
Cardiovascular Medicine Services / Heart Centre
Ph: (03) 9076 3263
Fax: (03) 9076 2461
E: h.centre@alfred.org.au


Regional

Genetic Health Services Victoria
1142 Pemberton St
West Albury, NSW 2640
Ph: (02) 6041 3545
Fax: (02) 6041 3546

Western Australia

Metropolitan

Princess Margaret Hospital for Children
Level 6, Hay Street Building
Roberts Road, Subiaco, WA 6008
Ph: (08) 9340 1625
Fax: (08) 9340 1678
E: gswa@health.wa.gov.au

King Edward Memorial Hospital
374 Bagot Road Subiaco, WA 6008
Ph: (08) 9340 1525
Fax: (08) 9340 1678
E: gswa@health.wa.gov.au


Regional

Genetics Services of Western Australia
Ph: (08) 9340 1525
Fax: (08) 9340 1678
E: gswa@health.wa.gov.au