What syndromes are associated with Quincke's sign?

Syndromes Associated with Quincke's Sign

Quincke's sign (capillary pulse) is primarily associated with aortic regurgitation/insufficiency and is not a specific marker for any particular syndrome, though it may be observed in several syndromes that feature cardiovascular abnormalities, particularly those with aortic valve involvement. 1

Understanding Quincke's Sign

Quincke's sign is a physical examination finding characterized by visible pulsations in the nail bed when light pressure is applied to the nail tip. It represents visible arterial pulsations appearing as alternating flashes of red and white in the partially blanched nail bed.

While this sign can be seen in normal individuals, it becomes more prominent in conditions with widened pulse pressure, particularly aortic regurgitation 1, 2.

Syndromes Associated with Cardiovascular Abnormalities That May Present with Quincke's Sign

1. Williams Syndrome

• Features a developmental disorder involving connective tissue and cardiovascular system
• Characterized by supravalvular aortic stenosis (SupraAS) which can coexist with peripheral pulmonary stenosis
• Associated with chromosome deletion in band 7q11.23
• Distinctive facial features: micrognathia, large mouth and lips, upturned nose, hypertelorism, malformed teeth, broad forehead, and baggy cheeks
• Most patients have lack of social inhibition and some degree of mental disability 3

2. Marfan Syndrome

• Associated with aortic root dilation and aortic regurgitation
• High maternal risk during pregnancy
• Features connective tissue abnormalities 3

3. Ehlers-Danlos Syndrome

• Similar to Marfan syndrome with aortic involvement
• Characterized by loose skin and joint hypermobility
• Can present with aortic regurgitation 3

4. Loeys-Dietz Syndrome

• Features aortic root dilation similar to Marfan syndrome
• Associated with high cardiovascular risk 3

5. DiGeorge Syndrome (22q11.2 Deletion Syndrome)

• Characterized by conotruncal cardiac anomalies in ~80% of cases diagnosed in infancy
• Common cardiac defects include tetralogy of Fallot, interrupted aortic arch, truncus arteriosus, and ventricular septal defects
• Associated with chromosome 22q11.2 deletion
• Also presents as velocardiofacial (Shprintzen) syndrome and conotruncal anomaly face (Takao) syndrome
• Coexisting conditions include schizophrenia, intellectual disability, deafness, immune deficiencies, and endocrinopathies 3, 4

6. Noonan Syndrome

• Features cardiovascular abnormalities including pulmonary valve stenosis and hypertrophic cardiomyopathy
• May have aortic regurgitation
• Characterized by varying degrees of cognitive deficits 3

7. Turner Syndrome

• Associated with cardiovascular problems including aortic valve disease
• Patients have various non-cardiovascular issues including ovarian and thyroid disorders, inflammatory bowel disease, and sensorineural deficits 3

Clinical Significance and Limitations

It's important to note that Quincke's sign has been questioned regarding its clinical utility. Some research suggests it may not be a useful diagnostic tool for aortic regurgitation 1. The presence of this sign should prompt further cardiovascular evaluation rather than being considered definitive for diagnosis.

Additionally, conditions like keratoderma with sclerodactyly can mimic Quincke's pulse due to compression of the nailbeds rather than from hemodynamic causes, creating a pseudo-Quincke's pulse 2.

Caution Regarding Terminology

Be aware that "Quincke's disease" refers to a different condition - a form of angioneurotic edema involving the uvula - and should not be confused with Quincke's sign 5, 6.

Clinical Approach

When Quincke's sign is observed:

1. Consider underlying aortic regurgitation
2. Evaluate for associated syndromes with comprehensive cardiac assessment
3. Look for other signs of aortic regurgitation (de Musset's sign, Duroziez's sign)
4. Consider echocardiography for definitive diagnosis of valvular disease
5. If a syndrome is suspected, genetic testing may be appropriate, particularly chromosomal microarray analysis which has a high detection rate for chromosomal abnormalities 4

Remember that while Quincke's sign may be present in these syndromes, it is a secondary finding related to the cardiovascular manifestations rather than a primary diagnostic feature of any specific syndrome.