Health Supervision for Children and Adolescents With Marfan Syndrome

Brad T Tinkle1, Ronald V Lacro2, Leah W Burke3

  • 1Peyton Manning Children's Hospital, Ascension Healthcare, Indianapolis, Indiana.

Pediatrics
|March 20, 2023
PubMed

Insights

Marfan syndrome is a genetic disorder affecting connective tissues, with symptoms appearing from birth to adulthood. Early recognition and multidisciplinary care are crucial for managing this condition in children and adults.

Area of Science:

  • Genetics and Heritable Diseases
  • Connective Tissue Disorders
  • Pediatric Clinical Medicine

Background:

  • Marfan syndrome is a significant heritable connective tissue disorder impacting multiple organ systems.
  • Clinical manifestations can range from congenital presentation to emergence during childhood and adulthood.
  • Associated morbidity and mortality necessitate comprehensive management strategies.

Purpose of the Study:

  • To provide pediatricians with guidance on recognizing Marfan syndrome features.
  • To support pediatricians in managing individuals with Marfan syndrome.
  • To enhance health outcomes and quality of life for patients with Marfan syndrome.

Main Methods:

  • This clinical report synthesizes current knowledge on Marfan syndrome.
  • It focuses on diagnostic features relevant to pediatricians.
  • Management strategies emphasize a multidisciplinary approach.

Main Results:

  • The report details the diverse clinical manifestations of Marfan syndrome across different age groups.
  • It outlines key diagnostic indicators for pediatricians.
  • It stresses the importance of early identification and intervention.

Conclusions:

  • Early recognition of Marfan syndrome is vital for timely intervention.
  • A multidisciplinary care model optimizes patient outcomes.
  • Pediatricians play a key role in the lifelong management of Marfan syndrome.

Related Concept Videos

Mitral Stenosis III: Medical Management01:26

Mitral Stenosis III: Medical Management

Mitral stenosis, a condition marked by the narrowing of the mitral valve, necessitates an integrated approach for effective management. This approach includes preventative measures, medical therapy, and surgical interventions to reduce symptoms and prevent complications.PreventionPrevention of mitral stenosis primarily focuses on reducing the incidence of bacterial infections, particularly streptococcal infections, which can lead to rheumatic fever and subsequent valvular damage. Timely...
15
Mitral Stenosis IV: Nursing Management01:27

Mitral Stenosis IV: Nursing Management

A comprehensive nursing assessment is essential for patients with valvular heart disease, which involves any dysfunction of the heart valves that could impact blood flow and overall heart function.Subjective Data Collection:Chief Complaint and Present Illness: Start with the patient's primary concerns, focusing on the onset, duration, and progression of cardiac symptoms such as dyspnea, fatigue, chest pain, and palpitations.Past Medical History: Collect detailed information on any previous...
17
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
208
Mitral Valve Prolapse III: Nursing Management01:19

Mitral Valve Prolapse III: Nursing Management

The nursing management of Mitral Valve Prolapse, or MVP, centers around patient education, symptom monitoring, and lifestyle modifications.Patient Education on MVP Diagnosis and Heredity: Nurses should provide comprehensive education about MVP, a condition where the mitral valve does not close appropriately during heartbeats. This education often includes the condition's pathophysiology, symptoms, and potential complications, like arrhythmias or mitral regurgitation. Though not fully...
24
Mitral Valve Prolapse II: Assessment and Management01:22

Mitral Valve Prolapse II: Assessment and Management

IntroductionA range of clinical features characterizes Mitral Valve Prolapse (MVP), but it is important to note that many individuals with MVP are asymptomatic and may remain so throughout their lives. For those who do exhibit symptoms, the following are the key clinical features:Palpitations: This is a common symptom where individuals feel an irregular or rapid heartbeat. Palpitations in MVP are often due to arrhythmias such as premature ventricular contractions or supraventricular...
29
Bone Disorders01:29

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
3.7K