Related Experiment Video
Updated: Aug 4, 2026
05:07
Multimodality Diagnosis of Mesenteric Ischemia
Published on: July 21, 2023
617
Type A Aortic Dissection in a 24-Year-Old Patient With Kabuki Syndrome
Nesar A Hasami1, Kinsing Ko1, Marlies J E Kempers2
1Department of Cardiothoracic Surgery, Radboud University Medical Center, Nijmegen, the Netherlands.
JACC. Case Reports
|January 15, 2024
Summary
This case report details the first documented aortic dissection in a patient with Kabuki syndrome (KS). It highlights the critical need for cardiovascular monitoring and further research in individuals with KS.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Kabuki syndrome (KS) is a rare genetic disorder associated with various congenital anomalies.
- Cardiovascular complications are known in KS, but specific risks like aortic dissection are not well-established.
- Early identification and management of cardiovascular risks are crucial for improving patient outcomes.
Purpose of the Study:
- To report the first case of type A aortic dissection in a patient diagnosed with Kabuki syndrome.
- To emphasize the necessity of rigorous cardiovascular risk monitoring in patients with KS.
- To advocate for further research into the link between Kabuki syndrome and aortic pathologies.
Main Methods:
- Case report documentation.
- Review of patient's clinical history and diagnostic findings.
- Literature review on Kabuki syndrome and aortic diseases.
Main Results:
- The study documents the first instance of type A aortic dissection occurring in a patient with Kabuki syndrome.
- This case underscores a potential, previously unrecognized cardiovascular risk in individuals with KS.
- The findings necessitate a re-evaluation of cardiovascular surveillance protocols for KS patients.
Conclusions:
- Kabuki syndrome patients may be at increased risk for aortic dissection.
- Intensive cardiovascular risk monitoring should be implemented for all patients with KS.
- Further research is essential to elucidate the correlation between KS and aortic dissection, enhancing clinical awareness and patient care.
Related Concept Videos
01:15Aortic Regurgitation I: Introduction
IntroductionAortic regurgitation is characterized by the backward flow of blood from the aorta into the left ventricle during diastole and arises from the improper closure of the aortic valve. This condition results in left ventricular volume overload and can stem from both acute and chronic etiologies, each contributing uniquely to the disease's progression and symptomatology.Acute and Chronic CausesAcute aortic regurgitation often results from events that suddenly impair the integrity of the...
01:22Aortic Regurgitation II: Clinical Features and Diagnostic Tests
Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
01:30Aneurysm I: Introduction
An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
01:26Aneurysm III: Interprofessional Care
Aneurysm management involves either conservative medical therapy or surgical intervention, depending on the size and symptoms of the aneurysm. Conservative management is generally reserved for smaller, asymptomatic aneurysms, while larger or symptomatic aneurysms often necessitate surgical repair.Conservative Medical TherapyFor small, asymptomatic aneurysms, particularly abdominal aortic aneurysms (AAA) less than 5.5 centimeters in diameter, conservative medical therapy is recommended. This...
01:22Aneurysm IV: Nursing Management
Vigilant monitoring for aneurysm rupture is essential for patients undergoing aortic surgery.Preoperative Nursing ManagementContinuously monitor the patient for manifestations of aneurysm rupture, such as pallor, weakness, tachycardia, hypotension, abdominal, back, groin, or periumbilical pain, changes in consciousness, and a pulsating abdominal mass. Regularly assess the patient's peripheral pulses.Instruct the patient to consume a clear liquid diet the day before surgery and administer...