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Congenital Vascular Malformations in Children: From Historical Perspective to a Multidisciplinary Approach in the
Frédérique C M Bouwman1,2,3, Bas H Verhoeven1,3, Willemijn M Klein2,3
1Department of Pediatric Surgery, Amalia Children's Hospital, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Insights
Congenital vascular malformations (CVMs) arise from abnormal embryonic development. Recent advances in genetic identification and personalized treatments are improving patient care and well-being.
Area of Science:
- Vascular Biology
- Developmental Biology
- Genetics
Background:
- Congenital vascular malformations (CVMs) are present at birth due to aberrant embryogenesis.
- Symptoms like pain, bleeding, and ulcers vary based on the affected vessels.
- Treatment options are diverse, including conservative management, surgery, sclerotherapy, embolization, and pharmacotherapy.
Purpose of the Study:
- To provide an overview of diagnostic and classification advancements in CVMs.
- To highlight innovations in identifying genetic mutations and developing personalized treatments.
- To emphasize the importance of a multidisciplinary approach for optimizing CVM patient care.
Main Methods:
- Literature review focusing on historical developments and recent innovations in CVM diagnosis and treatment.
- Analysis of key genetic discoveries and their impact on personalized medicine.
- Discussion of multidisciplinary care strategies.
Main Results:
- Significant progress has been made in understanding the genetic basis of CVMs.
- Personalized treatment strategies are emerging based on genetic findings.
- A multidisciplinary approach is crucial for comprehensive patient management.
Conclusions:
- Advances in genetics and personalized medicine are transforming CVM care.
- Optimizing clinical outcomes requires a holistic approach addressing physical and psychosocial well-being.
- Continued research and collaboration are essential for improving the management of these rare conditions.
Abstract:
Congenital vascular malformations (CVMs) are the result of an aberrant development during embryogenesis. Although these lesions are present at birth, they are not always visible yet. Once symptomatic, patients suffer from pain, bleeding, ulcers, infections or lymphatic leakage, depending on the subtype of vessels involved. Treatment includes conservative management, surgery, sclerotherapy, embolization and pharmacological therapy. The clinical presentation varies widely and treatment can be challenging due to the rarity of the disease and potential difficulties of treatment. This review gives an overview of the historical developments in diagnosis and classification and exposes the key elements of innovations in the past decades on the identification of genetic mutations and personalized treatment. These advances in the field and a multidisciplinary approach are highly valuable in the optimization of clinical care aimed at both curing or stabilizing the CVM and pursuing physical and psychosocial wellbeing.
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