Is Stickler syndrome associated with an increased risk of cardiovascular problems?

Stickler Syndrome and Cardiovascular Complications

Stickler syndrome is associated with mitral valve prolapse in approximately 45% of patients, but is not generally linked to other significant cardiac problems that impact morbidity or mortality.

Cardiovascular Manifestations in Stickler Syndrome

Mitral Valve Prolapse

• Mitral valve prolapse (MVP) has been documented in 45.6% of patients with Stickler syndrome, affecting both males (42.9%) and females (50%) 1
• The click-murmur syndrome was found in 34.6% of Stickler patients with mitral valve prolapse, though only one patient was symptomatic 1
• Despite this relatively high prevalence, MVP in Stickler syndrome appears to be clinically less significant than initially reported, with more recent clinical experience suggesting it may not be as common as earlier studies indicated 2

Other Cardiac Findings

• Hypertrophic cardiomyopathy has been reported as a rare finding in Stickler syndrome, described in a case report of a 4-month-old infant, but this appears to be an uncommon association 3
• There is no evidence in the literature suggesting that Stickler syndrome is associated with an increased risk of sudden cardiac death, ventricular arrhythmias, or other major cardiovascular complications 2
• The primary clinical guidelines on sudden cardiac death and ventricular arrhythmias do not identify Stickler syndrome as a condition associated with increased cardiovascular risk 4

Clinical Implications and Management

Cardiovascular Screening

• All patients with Stickler syndrome should be evaluated for mitral valve prolapse through auscultation, electrocardiogram, and echocardiography 1
• Patients found to have mitral valve prolapse should receive:
  • Periodic cardiovascular follow-up 1
  • Antibiotic prophylaxis for certain surgical procedures according to current endocarditis prevention guidelines 1

Risk Stratification

• Unlike other connective tissue disorders such as Marfan syndrome, Stickler syndrome has not been identified as carrying a high risk for major cardiovascular complications 2
• The primary morbidity and mortality concerns in Stickler syndrome relate to:
  • Ophthalmological complications (retinal detachment, high myopia) 2, 5
  • Hearing impairment (present in 62.9% of patients) 6
  • Skeletal manifestations (joint hypermobility, early osteoarthritis) 2

Genetic Considerations

• Stickler syndrome is genetically heterogeneous, with mutations in several collagen genes (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3) and non-collagen genes (BMP4, LRP2, LOXL3) 5
• The cardiovascular phenotype does not appear to vary significantly based on the specific genetic mutation, unlike other manifestations such as hearing loss which shows gene-specific patterns 5, 6

Clinical Pearls and Pitfalls

• Do not assume that all connective tissue disorders carry the same cardiovascular risks - Stickler syndrome has a more benign cardiovascular profile than Marfan syndrome or some forms of Ehlers-Danlos syndrome 2
• Focus cardiovascular monitoring on detection and management of mitral valve prolapse rather than more serious cardiac complications 1
• Remember that the primary sensory impairments in Stickler syndrome (visual and hearing) may make symptoms of cardiovascular disease more difficult for patients to recognize or report 5, 6