Clinical Characteristics of Marfan Syndrome in Korea

Abstract

Background and ObjectivesMarfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS.Subjects and MethodsWe included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center. Patients with an MFS-related disorder including MASS phenotype (myopia, mitral valve prolapse, borderline and non-progressive aortic root dilatation, skeletal findings, and striae), mitral valve prolapse syndrome, and ectopia lentis syndrome were excluded. A total of 343 Korean patients aged ≥15 years who satisfied the revised Ghent nosology were included.ResultsThe mean patient age at diagnosis was 35.9±12.6 years and 172 (50.1%) patients were male. Median follow-up duration was 52.8 months. A total of 303 patients (88.6%) had aortic root dilatation with Z score ≥2 or aortic root dissection. Ectopia lentis was relatively less common (163 patients, 55.1%) and systemic score ≥7 was found in 217 patients (73.8%). Among 219 probands, a family history of MFS was present in 97 patients (44.5%) and sporadic cases in 121 patients (55.5%). Among the 157 probands who underwent genetic analysis, 141 (89.8%) had an FBN1 mutation associated with aortic root aneurysm/dissection. Aortic dissection (AD) or intramural hematoma (IMH) was identified in 110 patients (32.1%). Among the 221 patients without AD or IMH, descending aortic aneurysms were identified in 19 patients (8.6%). Two hundred thirteen patients (62%) underwent cardiovascular surgery of any type. Eight patients died during follow-up.ConclusionWe described the clinical characteristics and outcomes of Korean MFS patients. Cardiovascular manifestations were commonly detected and FBN1 mutation was present in approximately 90% of patients. In contrast, ectopia lentis was identified in approximately half of patients. Our findings will be informative for the evaluation of patients with MFS.

Differences in Cardiovascular Manifestation of Marfan Syndrome Between Children and Adults

“…In general, the most common cardiovascular abnormality in both age groups was aortic root dilatation. Similar rates (from 65.2 to 88.6%) of aortic root dilatation have been shown by other authors [ 6 , 9 , 16 , 27 – 31 ]. In the present study, it was found that both adults and children had similar high rates of aortic root dilatation, which indicated that the majority of patients developed aortic root dilatation in early childhood.…”

“…Similar high rates of mitral valve prolapse were reported by Pyeritz et al (68%), Roman et al (62% of children and 55% of adults) and Faivre et al (60.36% of children) [ 28 , 31 , 36 ]. On the other hand, it should be mentioned that there are studies showing either much greater prevalence of mitral valve prolapse—88.5% (Karnebeek et al), 100% (Geva et al) and 100% (Ozdemir et al) or much lower—17.5% (Lipscomb et al) and 29% (Lima et al), which indicates that the mitral valve prolapse diagnostic criteria is equivocal [ 6 , 27 , 30 , 37 , 38 ]. Most of the previous studies evaluated the prevalence of mitral valve prolapse, but not mitral valve regurgitation.…”

“…There is paucity of data, on how many patients with MFS require cardiac surgery. Lima et al reported a similar rate of 62% in a population with MFS above 15 years old, with the mean age at the time of first surgery of 35.5 ± 11.3 years [ 27 ]. Karnebeek et al assessed cardiac surgeries in children with MFS and reported its prevalence at 26% [ 6 ].…”

Increased risk of malignancy in patients with an aortic aneurysm: a nationwide population-based retrospective study

“…In a Korean MFS cohort, up to 89.8% of patients who had FBN1 mutationsin genetic analysis developed aortic root aneurysm/dissection, and 62% of patients underwent some type of cardiovascular surgery. CVD manifestations were commonly detected, and FBN1 mutations were present in approximately 90% of patients [ 34 ]. AAs in MFS tended to occur in relatively young patients and are susceptible to dissection and rupture [ 35 , 36 ].…”

The Prevalence of Marfan Syndrome in Korea

“…In Korea, the number of echocardiography devices available at hospitals or clinics registered with the National Health Insurance Service in the middle of 2013 was 21,301 among 62,853 medical institutions ( 20 , 23 ). In addition, 343 Korea MFS patients between 1995 and 2015 at a single tertiary medical center showed that cardiovascular manifestations such as aortic root dilatation or aortic root dissection were present in 88.6% of the patients ( 24 ). Furthermore, the FBN1 genetic test has been covered by National Health Insurance since January 2016, in Korea.…”