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Cardiovascular manifestations of type IV Ehlers-Danlos syndrome - A case report
Tiago Sepúlveda Santos1, Rita Marçal2, Oana Moldovan3
1Serviço de Medicina I-C, CHLN-HSM, Lisboa, Portugal.
Insights
Vascular Ehlers-Danlos syndrome, a rare genetic disorder, causes arterial rupture. Early diagnosis and blood pressure control are crucial for managing this condition and preventing severe cardiovascular events.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Rheumatology
Background:
- Type IV Ehlers-Danlos syndrome (vEDS) is a rare, life-threatening genetic connective tissue disorder.
- It stems from mutations in the COL3A1 gene, affecting type III collagen synthesis.
- vEDS is characterized by extreme vascular fragility and a high risk of arterial and organ rupture.
Observation:
- A 41-year-old female presented with a history of multiple severe cardiovascular events.
- These included aortic, coronary, and carotid artery dissections, alongside venous and arterial thrombosis.
- The patient underwent multiple surgical interventions and prolonged intensive care.
Findings:
- The patient was diagnosed with vascular Ehlers-Danlos syndrome.
- Despite the severity of her cardiovascular complications, she achieved complete functional recovery.
- Celiprolol is noted as the only current medication with potential cardiovascular event prevention benefits.
Implications:
- This case highlights the critical importance of early diagnosis in vascular Ehlers-Danlos syndrome.
- Prompt identification enables timely intervention and management strategies.
- Effective blood pressure control and a multidisciplinary approach are essential for improving patient outcomes and preventing catastrophic vascular events.
Abstract:
Type IV Ehlers-Danlos syndrome (vascular) is a rare connective tissue disease caused by COL3A1 gene mutation on type III collagen. Clinical presentation is related to vascular fragility and risk of rupture of the arterial wall. Definite diagnosis is given by genetic study and the approach to these patients requires a multidisciplinary team and effective blood pressure control. There is currently only one medication with potential benefit in prevention of cardiovascular events: celiprolol. This article describes the case of a 41-year-old female patient, diagnosed with vascular Ehlers-Danlos syndrome after multiple major cardiovascular events: aortic, coronary and carotid dissections and venous and arterial thrombosis. These required multiple surgical interventions and long-term admission in intensive care units leading to complete functional recovery. This case report seeks to stress the need for an early diagnosis to prevent the severe cardiovascular complications of this rare syndrome.
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