Electrocardiographic abnormalities of adult patients with Marfan syndrome and their associations with body habitus and chest wall asymmetry

Type of funding sources: Foundation. Main funding source(s): Cardiac risk in the young charity, and Robert Luff Foundation.

There are only limited reports of electrocardiographic (ECG) abnormalities in adults with Marfan syndrome (MFS) and their associations with skeletal features commonly found in this patient group.

We aimed to characterize the ECG in adult Marfan patients fulfilling the Ghent criteria and assess the relationship between ECG abnormalities, body habitus, chest and back deformities.

We studied all MFS patients aged ≥18 years old seen in our Aortopathy clinic between October 2015 and December 2019, who had not undergone cardiothoracic surgery. We collected information on demographics, body habitus (height, weight and body mass index-BMI), medical treatment and echocardiographic measurements. Chest wall asymmetry were defined as presence of pectus excavatum (PE), or pectus carinatum (PC). The ECGs were systematically analysed based on established criteria. Data regarding T wave inversion (TWI) and its localisation were recorded. Early QRS transition was defined as transition zone in leads V1-V2 or V2-V3. Vertical axis as an axis between +60 degrees and +90 degrees. Left ventricular hypertrophy (LVH) was defined according to Sokolow-Lyon criteria.

146 consecutive MFS patients were included (mean age 39±14.8 years, females 53.4%, Caucasian 81.1%, BMI 24±6 Kg/m2). Chest wall asymmetry were present in 42.5% of the patients (PE 17.6%, PC 22.3%) and scoliosis in 48.4% of them. Echocardiography revealed a mean aortic root was 40.1±6.4 mm but no evidence of significant cardiomyopathy in any of the patients. Four individuals exhibited moderate mitral and aortic regurgitation. Positive LVH ECG criteria were observed in 22.6% of the cohort. Anterior TWI was found in 10.7%, inferior TWI in 4.4% and lateral in 2.5%. An early QRS transition zone was shown in 33.9% and a vertical axis in 44%. Body habitus was associated with ECG abnormalities; patients with a vertical axis were younger (33.7±12 years vs 45.5±15 years), taller (184.4±9.7cm vs 179.2±10.2cm, p=0.003) and had lower BMI (21.7±4.4Kg/m2 vs 26.3±5.8Kg/m2, p<0.001). Vertical axis was more common in females compared to males (61.4% versus 38.6%. P=0.09) while LVH was more common in males (69.4% vs 30.6%, p = 0.002). Patients with LVH criteria were younger (36.7±11.9 years vs 40.9±15.6 years), taller (184.9 cm vs 180.7 cm, p=0.05) and had lower BMI (22 ±2.9Kg/m2 vs 24.5±6.0Kg/m2, p<0.047. Anterior TWI were more common in patient with PE (p=0.05). Lateral and Inferior TWI were not associated with any specific chest wall asymmetry.

In the present cohort of adult MFS patients, a positive LVH criteria and vertical QRS axis were more common in those who were younger, taller and had a lower BMI. Pathological TWI were present in almost a fifth of MFS patients. Patients with pectus excavatum were more likely to have anterior TWI. These findings may provide insights for better interpretation of the ECG variation in patients with MFS.