Marfan syndrome is a rare genetic connective tissue disorder. Research on health-related quality of life in Swedish patients is lacking. We aimed to examine health-related quality of life in patients with Marfan syndrome with respect to reference values, sex, and age.

Using the registry for adult CHD, Sahlgrenska University Hospital/Östra Hospital, between 1 April 2009 and 31 January 2023, we identified 1916 patients. Of these, we included 33 patients aged ≥18 years who were diagnosed with Marfan syndrome and had completed the 36-item Short-Form Health Survey.

The median age was 32 years (interquartile range 25.5–47.0) and 22 (66.7%) were men. Patients with Marfan syndrome had significantly lower values than reference values for all scales in the Short-Form Health Survey except bodily pain, role-emotional, and the physical component summary score. For both men and women with Marfan syndrome, vitality was the subscale with the greatest percentage difference in comparison with healthy reference values (82% in women and 73% in men). Furthermore, men reported significantly higher vitality levels than women (62.5 points, interquartile range 43.8–75.0 vs. 35 points, interquartile range 10.0–65.0, p = 0.026).

Adults with Marfan syndrome in Sweden showed lower health-related quality of life levels in comparison with reference values for most Short-Form Health Survey scales, and there were differences between patients with Marfan syndrome in terms of sex and age.

Marfan syndrome is a rare connective tissue disorder secondary to mutations in the FBN1 gene, characterised by skeletal, ocular, and cardiovascular manifestations. We present an extensive cohort of paediatric patients with Marfan syndrome highlighting the vital importance of promptly referring paediatric first-degree relatives of Marfan syndrome paediatric patients to a tertiary hospital as our results confirm that they are at higher risk of aortic dilatation.

Marfan syndrome is an autosomal dominant systemic disorder with connective tissue defects in multiple organ systems. Cardinal manifestations of this syndrome involve the cardiovascular, the skeletal and the ocular system. Interestingly, many cases of patients with Marfan syndrome and schizophrenia have been reported.

Discuss the etiological link between Marfan syndrome and schizophrenia

Presentation of a clinical case illustrating the comorbidity between schizophrenia and marfan syndrome. A search was conducted in PubMed database using the terms : schizophrenia AND Marfan syndrome.

Ms JW a 36-year- old single women, she had schizophrenia since the age of 20 years, she was hospitalized in our service for psychotic relapse in a context of treatment discontinuation. She had a personal history of persistence of the ductus arteriosus for which she had been operated during her childhood, a scoliosis operated and multiple pathological fractures. On mental status examination, she was distressed and hallucinated, She had disorganized thought processes and a paranoid delirium. On physical examination, she had features suggestive of Marfan syndrome such as crowded teeth, a high arched palate, arachnodactyly , hyperlaxity and a high myopia. We don’t dispose genetic evaluation for marfan syndrom because of the nonavaibility of facilities to perform genetic analysis. Several studies have indicated that psychiatric symptoms might be part of the clinical profiles of marfan syndrom. However, their relationship and underlying pathogenesis are not easily clarified.

Co-occurrence of marfan syndrom and schizophrenia might be explained by some shared etiological pathways between both disorders.

No significant relationships.

Aortic root dilation is a major complication of Marfan syndrome and is one of the most important criteria in establishing the diagnosis. Currently, different echocardiographic nomograms are used to calculate aortic root Z-scores. The aim of the present study was to assess the potential differences in aortic root measurements when aortic root Z-scores were obtained in a cohort of paediatric Marfan patients using several published nomograms.

In a cohort of 100 children with Marfan syndrome, Z-scores for aortic root dimensions were calculated according to the nomograms of Pettersen et al, Gautier et al, Colan et al, and Lopez et al. Bland–Altman plots were used to estimate mean differences in Z-scores and to establish limits of agreement.

The mean Z-score of the sinus of Valsalva for Lopez et al was significantly higher compared to Gautier et al (p < 0.01) and Pettersen et al (p = 0.03). The nomogram of Lopez et al resulted in substantially higher Z-scores in patients with a large sinus of Valsalva diameter. Thirty-five percentage of the studied patients would have a Z-score ≥ 2 using Lopez et al compared to 20% for Pettersen et al, 21% for Gautier et al, and 33% for Colan et al.

The currently available nomograms for calculating Z-scores of aortic dilation in children with Marfan syndrome lead to clinically relevant differences in Z-scores, especially in children with a relative large aortic root diameter. This could have impact on both the diagnosis and treatment of patients with Marfan syndrome.

Marfan syndrome is an autosomal dominant disorder of the connective tissue, whose cardinal features affect eyes, musculoskeletal, and cardiovascular system. Despite prevalence and natural history of cardiovascular manifestation are well known in adults, little is known about children and young adult patients. The aim of this study was to describe a well-characterised cohort of consecutive children and young patients with marfan syndrome, looking at the impact of family history and presence of bicuspid aortic valve on disease severity.

A total of 30 consecutive children and young patients with Marfan syndrome were evaluated. All patients underwent a comprehensive clinical–instrumental–genetic evaluation. Particular attention was posed to identify differences in prevalence of cardiovascular abnormalities between patients with and without family history of Marfan syndrome or bicuspid aortic valve.

Of these 30 patients, family history of Marfan syndrome and bicuspid aortic valve were present in 76 and 13%, respectively. Compared to patients with family history of Marfan syndrome, those without showed higher prevalence of aortic sinus dilation (87 versus 32%, p-value = 0.009), greater aortic sinus diameters (4.2 ± 2.1 versus 1.9 ± 1.1 z score, p-value = 0.002), and higher rate of aortic surgery during follow-up (37 versus 0%, p-value = 0.002). Compared to patients with tricuspid aortic valve, those with bicuspid aortic valve were younger (3.2 ± 4.3 versus 10.7 ± 6.8 years old, p-value = 0.043), showed greater aortic sinus diameters (4.2 ± 0.9 versus 2.2 ± 1.6 z score, p-value = 0.033), and underwent more frequently aortic root replacement (50 versus 4%, p-value = 0.004).

In our cohort of patients with Marfan syndrome, the absence of family history and the presence of bicuspid aortic valve were associated to severe aortic phenotype and worse prognosis.

The goal of this study was to assess the utility of serial electrocardiograms in routine follow-up of paediatric Marfan patients.

Children ⩽18 years who met the revised Ghent criteria for Marfan syndrome and received a 12-lead electrocardiogram and echocardiogram within a 3-month period were included. Controls were matched by age, body surface area, gender, race, and ethnicity, and consisted of patients assessed in clinic with a normal cardiac evaluation. Demographic, clinical, echocardiographic, and electrocardiographic data were collected.

A total of 45 Marfan patients (10.8 [2.4–17.1] years) and 37 controls (12.8 [1.3–17.1] years) were included. Left atrial enlargement and left ventricular hypertrophy were more frequently present on 12-lead electrocardiogram of Marfan patients compared with controls (12 (27%) versus 0 (0%), p<0.001; and 8 (18%) versus 0 (0%), p=0.008, respectively); however, only two patients with left atrial enlargement on 12-lead electrocardiogram were confirmed to have left atrial enlargement by echocardiogram, and one patient had mild left ventricular hypertrophy by echocardiogram, not appreciated on 12-lead electrocardiogram. QTc interval was longer in Marfan patients compared with controls (427±16 versus 417±22 ms, p=0.03), with four Marfan patients demonstrating borderline prolonged QTc intervals for gender.

While Marfan patients exhibited a higher frequency of left atrial enlargement and left ventricular hypertrophy on 12-lead electrocardiograms compared with controls, these findings were not supported by echocardiography. Serial 12-lead electrocardiograms in routine follow-up of asymptomatic paediatric Marfan patients may be more appropriate for a subgroup of Marfan patients only, specifically those with prolonged QTc interval at their baseline visit.

Marfan syndrome patients present important cardiac structural changes, ventricular dysfunction, and electrocardiographic changes. An abnormal heart rate response during or after exercise is an independent predictor of mortality and autonomic dysfunction. The aim of the present study was to compare heart rate recovery and chronotropic response obtained by cardiac reserve in patients with Marfan syndrome subjected to submaximal exercise.

A total of 12 patients on β-blocker therapy and 13 off β-blocker therapy were compared with 12 healthy controls. They were subjected to submaximal exercise with lactate measurements. The heart rate recovery was obtained in the first minute of recovery and corrected for cardiac reserve and peak lactate concentration.

Peak heart rate (141±16 versus 155±17 versus 174±8 bpm; p=0.001), heart rate reserve (58.7±9.4 versus 67.6±14.3 versus 82.6±4.8 bpm; p=0.001), heart rate recovery (22±6 versus 22±8 versus 34±9 bpm; p=0.001), and heart rate recovery/lactate (3±1 versus 3±1 versus 5±1 bpm/mmol/L; p=0.003) were different between Marfan groups and controls, respectively. All the patients with Marfan syndrome had heart rate recovery values below the mean observed in the control group. The absolute values of heart rate recovery were strongly correlated with the heart rate reserve (r=0.76; p=0.001).

Marfan syndrome patients have reduced heart rate recovery and chronotropic deficit after submaximal exercise, and the chronotropic deficit is a strong determinant of heart rate recovery. These changes are suggestive of autonomic dysfunction.

Marfan syndrome (MFS) is an autosomal dominant disorder of fibrillin-1 gene mutations, with the involvement of cardiovascular, skeletal, and ocular systems. In addition to physical abnormalities, MFS patients are also found to be susceptible to schizophrenia and other psychiatric conditions.

Awareness of the association between MFS and psychiatric conditions would improve the clinical management of MFS patients to reduce the risk or even to prevent the development of psychiatric complications in MFS patients.

Here, we describe a male MFS patient who manifested incoherent speech and impaired cognitive and social function at the age of 40 years.

His mental dysfunction could be attributed to his bilateral cerebral infarction, which is a neurovascular complication associated with MFS.