Neonatal Marfan Syndrome: A Rare, Severe, and Life-Threatening Genetic Disease

Hereditary angioedema (HAE) is a rare genetic disease that results in recurrent, debilitating, and potentially life-threatening swelling episodes in the extremities, genitals, gastrointestinal tract, and upper airway. Patients can experience significant burdens related to their disease. Informal or familial caregivers often support patients with HAE and likely share in the disease-related burdens, although there are limited HAE caregiver‐focused reports in the scientific literature. In the United States, we conducted an online survey of adults caring for an individual with HAE to better understand their experiences with the disease and identify psychosocial impacts of providing care for a patient with HAE. Thirty caregivers provided responses to the survey. Most caregivers were family members of the care recipient and many had HAE themselves. Caregivers reported participating in a number of medical-related tasks and experiencing some burdens as a result of caring for a person with HAE.

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Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria

Case Reports in Endocrinology ◽

10.1155/2018/2353172 ◽

2018 ◽

Vol 2018 ◽

pp. 1-4

Author(s):

Adele Latina ◽

Massimo Terzolo ◽

Anna Pia ◽

Giuseppe Reimondo ◽

Elena Castellano ◽

...

Keyword(s):

Postmenopausal Woman ◽

Adrenal Insufficiency ◽

Replacement Therapy ◽

Genetic Disease ◽

Hip Replacement ◽

Acute Intermittent Porphyria ◽

Adrenal Hemorrhage ◽

Primary Adrenal Insufficiency ◽

Threatening Condition ◽

Life Threatening

Adrenal insufficiency is a potentially life-threatening condition when it occurs acutely, as in adrenal hemorrhage. Generally it is not reversible and requires chronic replacement therapy. Acute intermittent porphyria (AIP) is a rare genetic disease characterized by alterations in heme biosynthesis that result in accumulation of precursors in tissues. A crisis can be triggered by many conditions such as surgery and infections. Symptoms are similar to those of acute hypoadrenalism. Moreover, both conditions are characterized by hyponatremia. We describe the case of a postmenopausal woman known to be affected by AIP who developed after surgery a primary adrenal insufficiency associated with adrenal enlargement; the latter completely reverted in six months.

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Cardiac Transplantation in Neonatal Marfan Syndrome - A Life-Saving Approach

The Thoracic and Cardiovascular Surgeon ◽

10.1055/s-2004-830455 ◽

2005 ◽

Vol 53 ◽

pp. S146-S148 ◽

Cited By ~ 4

Author(s):

T. Krasemann ◽

S. Kotthoff ◽

H.-G. Kehl ◽

V. Debus ◽

T. D. T. Tjan ◽

...

Keyword(s):

Marfan Syndrome ◽

Cardiac Transplantation ◽

Life Saving ◽

Neonatal Marfan Syndrome

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A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team

Case Reports in Pediatrics ◽

10.1155/2017/8952428 ◽

2017 ◽

Vol 2017 ◽

pp. 1-6 ◽

Cited By ~ 2

Author(s):

Elliott J. Carande ◽

Samuel J. Bilton ◽

Satish Adwani

Keyword(s):

Marfan Syndrome ◽

Surgical Intervention ◽

Rare Condition ◽

Mitral Valve Regurgitation ◽

Left Ventricular ◽

Cardiac Complications ◽

Chromosome 15 ◽

Fibrillin 1 ◽

Neonatal Marfan Syndrome

Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS.

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Primary trabeculodysgenesis in association with neonatal Marfan syndrome

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.30139 ◽

2004 ◽

Vol 128A (4) ◽

pp. 418-421 ◽

Cited By ~ 3

Author(s):

Charlotte M. Whitelaw ◽

Samira Anwar ◽

Lesley C. Adès ◽

Glen A. Gole ◽

James E. Elder ◽

...

Keyword(s):

Marfan Syndrome ◽

Neonatal Marfan Syndrome

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Neonatal Marfan syndrome with missense variant of c.3706T>C undergoing bilateral atrioventricular valve replacement

Cardiology in the Young ◽

10.1017/s1047951121003905 ◽

2021 ◽

pp. 1-4

Author(s):

Junpei Kawamura ◽

Kentaro Ueno ◽

Yoshifumi Kawano

Keyword(s):

Marfan Syndrome ◽

Valve Replacement ◽

Tricuspid Valve ◽

Rare Condition ◽

Missense Variant ◽

Tricuspid Valve Replacement ◽

Genetic Syndrome ◽

Fibrillin 1 ◽

Valve Insufficiency ◽

Neonatal Marfan Syndrome

Abstract Neonatal Marfan syndrome is a rare condition with poor prognosis because of severe mitral and/or tricuspid valve insufficiency. Mitral valve replacement is sometimes required in early infancy, while tricuspid valve replacement is rarely done. We report the first infant neonatal Marfan syndrome case with a missense variant of c.3706T>C in the fibrillin-1 gene that was successfully managed by mitral and tricuspid valve replacement. Early multiple-valve replacement may sometimes be required during infant age in this genetic syndrome.

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