Aortopathy & Connective Tissue

Marfan & Loeys-Dietz Syndrome in Children

World-class aortic surveillance, Z-score echocardiography, and tailored family screening from Dr Nitha Naqvi, Paediatric Aortopathy and Marfan Lead at the Royal Brompton Hospital.

What are Marfan and Loeys-Dietz syndromes in children?

Marfan syndrome and Loeys-Dietz syndrome are inherited genetic connective tissue disorders that weaken the walls of blood vessels. Their primary cardiovascular impact is progressive stretching and widening of the aortic root (the main artery emerging from the heart). Regular specialist echocardiograms and medical management protect the aorta and ensure normal, active childhoods.

Marfan Syndrome

Caused by mutations in the FBN1 (fibrillin-1) gene. Characterised by tall stature, long limbs and fingers (arachnodactyly), flexible joints, chest wall pectus deformities, lens dislocation, and aortic root enlargement.

Detailed Marfan Guide

Loeys-Dietz Syndrome

Caused by mutations in the TGF-beta pathway (TGFBR1/2, SMAD3, TGFB2/3). Features can include widely spaced eyes (hypertelorism), bifid uvula, tortuous blood vessels, and widespread aortic/arterial surveillance requirements.

Detailed Loeys-Dietz Guide

Cardiovascular Care & Aortic Protection

Because the aorta can stretch over time without causing noticeable physical pain, routine cardiovascular imaging is the cornerstone of safe management.

Dr Naqvi calculates precise, body surface area-adjusted aortic Z-scores to monitor the aortic annulus, sinuses of Valsalva, sinotubular junction, and ascending aorta. When aortic enlargement is identified, protective medications (such as Losartan or Atenolol) reduce aortic wall tension and prevent rapid dilation.

Diagnostic Scans at 77 Wimpole Street

  • Paediatric Echocardiogram: Non-invasive ultrasound measurement of aortic diameters, mitral valve prolapse, and myocardial function.
  • Cardiac MRI & Angiography: Complete 3D mapping of the entire aortic tree from chest to abdomen.
  • Family Genetic Screening & Counselling: Guiding gene testing and cascade screening for parents and siblings.

National Aortopathy Lead

Dr Naqvi leads the Paediatric Aortopathy Marfan Service at the Royal Brompton Hospital, delivering world-leading clinical expertise to private families.

Book an Aortopathy Check

Specialist consultations at 77 Wimpole Street, London.

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Frequently Asked Questions: Marfan & Loeys-Dietz

Clinical insights from Dr Nitha Naqvi

Marfan syndrome (FBN1 gene) and Loeys-Dietz syndrome (TGFBR1/2, SMAD3, TGFB2/3 genes) are genetic connective tissue disorders affecting heart structures, blood vessels, eyes, and the skeleton. Their most critical cardiovascular feature is progressive enlargement (dilatation) of the aortic root.

Regular high-precision echocardiograms track aortic root dimensions and growth rates using body surface area Z-scores, allowing timely medical protection (e.g. ARBs or beta-blockers) and preventing aortic dissection.

Children are actively encouraged to enjoy non-contact, low-to-moderate aerobic exercise (such as swimming, cycling, and walking). Strenuous isometric exercises (heavy weightlifting) and intense contact sports are generally avoided to safeguard the aorta.

Yes. Because Marfan and Loeys-Dietz syndromes are autosomal dominant genetic conditions, first-degree relatives (parents, siblings, children) should undergo genetic testing and echocardiographic screening.