Marfan Syndrome Flashcards by Dr. Tonmoy Biswas

What is the inheritence of Marfan syndrome?

Autosomal dominant

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Which type of systemic disease?

Connective tissue disorder

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Marfan syndrome: chromosome and gene

Chromosome 15

Gene: Fibrillin-1

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Other disorders associated with Fibrillin-1 mutation

Familial Ectopia lentis

Weill Marchesani syndrome

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Sex/gender of Marfan syndrome

both male and female are affected

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What is the carrier state?

NO carrier state

one mutated gene (heterozygote) will manifest disease

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Can Marfan syndrome skip a generation?

normally appears in every generation

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Ratio of new mutation

Among the affected person, 25% are first affected/new mutation

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Arm span to body height ratio in Marfan syndrome

>1.05

Normal: <1.05

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Stature of Marfan syndrome

Tall stature with disproportionately long limbs (= dolichostenomelia)

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Intelligence in Marfan syndrome

Usually normal

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Eye features of Marfan syndrome

Ectopia lentis (superotemporal/upward lens dislocation)

Blue sclera

Myopia

Peripheral retinal degeneration >>> retinal detachment

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Head-neck features of Marfan syndrome

High arched palate ( & narrow)

Crowded teeth

High-arched neck

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Limb features of Marfan syndrome

Arachnodactyly

Steinberg sign positive

Walker-Murdoch sign positive

Joint laxity

Pes planus in foot

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Arachnodactyly

Also called ‘spider finger’

Arachnid = Spider

Fingers are abnormally long, slender, curved liked spider legs +

all or few fingers can be bent backwards of 180 degree

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What are the specific signs of Marfan’s syndrome?

Steinberg sign positive

Walker-Murdoch sign positive

Steinberg sign

Fold your thumb >> then close your fist >> if thumb tip extends beyond the palm of hand >> Steinberg sign positive

Walker-Murdoch sign

Grip your wrist with your opposite hand >>> if thumb and fifth finger of hand overlap with each other >>> positive Walker-Murdoch sign

Radiological features of Marfan syndrome

Protrusio acetabulae

Dural ectasia in spinal MRI

Trunk features in Marfan syndrome

Pectus Excavatum or Carinatum

Scoliosis >20degree

Cardiac defects in Marfan syndrome

1. Dilation of the aortic root sinuses (90%cases of Marfan) >>> leads to Aortic regurgitation

2. Mitral valve prolapse (MVP) (75%cases of Marfan)

3. Aortic dissection

The most common cardiac defect in Marfan syndrome

Aortic root dilation >>> leading to >>> Aortic regurgitation

The second common cardiac defect in Marfan syndrome

Mitral valve prolapse (MVP) in 75% cases

often AR and MVP are present together

Murmur of MVP (Mitral valve prolapse)

Late systolic murmur

**Pulmonary defect in Marfan syndrome**

**Repeated spontaneous pneumothoraces** **Apical blebs on chest radiograph**

**Skin feature in Marfan syndrome**

**Striae**

**Blood defect in Marfan syndrome**

**Increased risk of thromboembolic disorder**

**Similarity between marfan syndrom and homocystinuria**

**Marfan syndrome may present with high homocystine level (homocystinuria)** **Homocystinuria may present with marfanoid habitus (e.g. arachnodactyly etc.)**

**Difference between Marfan syndrome and homocystinuria**

**Marfan syndrome: Autosomal dominant** **Homocystinuria: Autosomal recessive** **Marfan syndrome: upward ectopia lentis** **Homocystinuria: downward ectopia lentis**

**Marfan syndrome is diagnosed by-?**

**Modified Ghent criteria**

**Why did Ghent criteria need to be modified?**

**Due to emerging spectrum of mutations in fibrilin-1 associated disorders (other than Marfan syndrome)**

**What is the significance of new modified Ghent criteria?**

**It placed greater weight on \>\>\>** * **Cardiac features** * **Aortic dilatation** * **Ectopia lentis**

**How 'systemic score' is calculated to be used in modified Ghent criteria?**

**A systemic score is calculated, according to presence of \>\>\>** * **Musculoskeletal findings** * **Radiological findings** * **Skin findings** **\>\> weighted according to their diagnostic specificity**

**In patient without family history \>\> modified Ghent criteria to diagnose Marfan syndrome?**

**Any of the following four conditions \>\>\> Diagnosis of Marfan syndrome:** * **Aortic dilatation (Z score greater than or equalling 2) + Ectopia lentis** * **Aortic dilatation (Z score greater than or equalling 2) + Fibrillin-1 gene mutation** * **Aortic dilatation + systemic score greater than or equalling 7** * **Ectopia lentis and Fibrilin-1 mutation** **\*\*\* This Fibrillin-1 gene mutation should be known to be associated with Marfan syndrome, not other disorders**

**In patient with family history \>\> modified Ghent criteria to diagnose Marfan syndrome?**

**Family history in first degree relatives = parent, siblings, child** **If presence any of \>\>** * **Family history + Aortic dilataion** * **Family history +** **Ectopia lentis** * **Family history + Systemic score greater than or equalling 7** **\>\>\>\>\> Dx of Marfan syndrome**

**Treatment of Marfan syndrome**

**ACE inhibitors** **Beta blockers** **If lens is fully dislocated from pupil aperture \>\>\>\>\> Aphakic lens**

**Monitoring in Marfan syndrome**

**Regular echocardiography**

**Life expectancy**

**Around 40 to 50years** **If undiagnosed \>\>\> high risk of death in 30s to 40s**

**Main cause of death in Marfan syndrome**

**Aortic dissection (AD) & other heart defects**