Infantile Marfan syndrome in a Korean tertiary referral center

Abstract

PurposeInfantile Marfan syndrome (MFS) is a rare congenital inheritable connective tissue disorder with poor prognosis. This study aimed to evaluate the cardiovascular manifestations and overall prognosis of infantile MFS diagnosed in a tertiary referral center in Korea.MethodsEight patients diagnosed with infantile MFS between 2004 and 2014 were retrospectively evaluated.ResultsTheir median age at the time of diagnosis was 2.5 months (range, 0–20 months). The median follow-up period was 25.5 months (range, 0–94 months). The median length at birth was 50.0 cm (range, 48–53 cm); however, height became more prominent over time, and the patients were taller than the 97th percentile at the time of the study. None of the patients had any relevant family history. Four of the 5 patients who underwent DNA sequencing had a fibrillin 1 gene mutation. All the patients with echocardiographic data of the aortic root had a z score of >2. All had mitral and tricuspid valve prolapse, and various degrees of mitral and tricuspid regurgitation. Five patients underwent open-heart surgery, including mitral valve replacement, of whom two required multiple operations. The median age at mitral valve replacement was 28.5 months (range, 5–69 months). Seven patients showed congestive heart failure before surgery or during follow-up, and required multiple anti-heart failure medications. Four patients died of heart failure at a median age of 12 months.ConclusionThe prognosis of infantile MFS is poor; thus, early diagnosis and timely cautious treatment are essential to prevent further morbidity and mortality.

A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome

“…The literature search revealed 2341 de‐duplicated records, of which 289 were read in full. After the application of the inclusion criteria, 92 papers were included in the present review …”

“…In total, 14 papers based on 13 studies (2001‐2018) concerned cardiovascular features (Table ). Some dealt with the progression of cardiovascular findings or compared the results from children with those of adolescents and adults with Marfan syndrome .…”

“…Data were also analysed from echocardiograms at 0, 12, 24 and 36 months for 608 trial subjects to identify predictors of rapid aortic root diameter or referrals for aortic root surgery . Regarding study design, there were three prospective studies, one cross‐sectional study, eight retrospective chart reviews and one randomised controlled trial (two papers), that provided baseline data and findings . The studies included between eight and 608 children and adolescents, aged 0.5‐18 years, for a total of 1260.…”

“…In addition, one study, reported in two papers, was a multicentre study involving several countries. Most patients were recruited from single centres, including Marfan clinics with multidisciplinary teams, paediatric heart departments or cardiology departments and paediatric departments . Two papers reported from a multicentre study with 14 participating centres, while recruitment was unclear in one paper …”

Nonmyocyte ERK1/2 signaling contributes to load-induced cardiomyopathy in Marfan mice

“…In keeping with a critical contribution of hemodynamic stress, heart failure and infantile death in children with the most severe presentation of MFS uniformly associate with significant volume overload (44,45) and can be delayed or even prevented by aggressive surgical intervention for valve dysfunction (46)(47)(48). In this study, we utilized a standardized PO (via TAC) as a conditional provocation in young mice heterozygous for a typical MFS-associated missense mutation in fibrillin-1.…”