Wozniak-Mielczarek L, Sabiniewicz R, Drezek-Nojowicz M, Nowak R, Gilis-Malinowska N, Mielczarek M, Łabuc A, Waldoch A, Wierzba J.
Pediatr Cardiol. 2019 Feb;40(2):393-403. doi: 10.1007/s00246-018-2025-2. Epub 2018 Nov 11.
Select item 30415381
Take Home Points:
- Aortic root and ascending aorta dilatation, mitral valve prolapse and aortic regurgitation are equally prevalent in children and adults, while aortic arch, descending aorta and pulmonary truck dilatation are more common in adults.
- Aortic root dilatation is the primary cardiovascular manifestation of Marfan syndrome (81%), equally prevalent in adults and children with no predilection for male or female sex.
- Dilatation of the sinotubular junction (33%) and distal ascending aorta (27%) occurs in similar frequency amongst adults and children, and always in association with aortic root dilatation.
- Aortic arch (9 %) and descending thoracic or abdominal aorta (11%) dilatation is more common in adult patients than children.
- Aortic dissection was retrospectively noted in 8 patients (8%) at a mean age of 26 +/- 7 years; 3 of 4 females (75 %) were affected during the third trimester of pregnancy.
- Aortic valve regurgitation present in 26 patients (31%) but only mild in the majority (92%).
- Mitral valve prolapse is common in adults and children (53 and 57%, respectively).
- Pulmonary trunk dilatation is more frequent in adults as compared to children (37 vs. 16%, P=0.025).
Commentary from Dr. Timothy Roberts (Melbourne), section editor of ACHD Journal Watch:
This observational study aimed to assess differences in the frequency of cardiovascular manifestations of Marfan syndrome in a series of 236 patients referred for assessment of suspected Marfan syndrome. Referral indications included body stature (27 %), family history of Marfan syndrome (24 %), joint hypermobility (14 %), chest deformity (7 %), scoliosis (6 %), aortic dilatation or dissection (5 %) and lens dislocation (5 %). Marfan syndrome was diagnosed in 101 patients (43 %: 44/144 children, 57/92 adults) according to the modified Ghent criteria. The mean age at diagnosis of Marfan syndrome was 24 +/- 15 years (2 months – 65 years) with 46 % female gender. A family history of Marfan syndrome was present in 68 %. Genetic testing was not performed to confirm a clinical diagnosis of Marfan syndrome. Cardiovascular testing involved electrocardiography, 24-hour ambulatory monitoring and transthoracic echocardiography.
Aortic root dilatation was present in 81 % of Marfan subjects, affecting adults (49/57, 86 %) and children (33/44, 75 %) to a similar extent. A modest correlation was demonstrated between aortic root diameter and patient age (R=0.335, p=0.008). Subjects were further sub-grouped into four age categories (2 months – 9 years, 10 – 17 years, 18 – 29 years, and 30 – 65 years) with the highest z-score observed in adults (4.69 in 18 – 29 year group, 4.25 in the 30 – 65 year group; P=0.429). There was no difference in degree of aortic root dilatation according to sex.
Aortic arch dilatation occurred in 9 patients (9 %), more frequently in adults than children (P=0.04). Similarly, adults had a greater prevalence of descending thoracic or abdominal aorta dilatation (18 vs. 2 %, p=0.015).
Aortic dissection (retrospectively) occurred in 8 subjects: 6 adults (11 %) and 2 children (5 %). Type A dissection contributed to 5 of these events. Of note, 3 of the four females with dissection were affected during the third trimester of pregnancy.
Aortic regurgitation was diagnosed in 26 patients (31 %), being only mild in the majority and moderate in two adults (8 %). Prevalence was not different in adults and children. Four subjects had bicuspid aortic valve morphology.
Mitral regurgitation of any aetiology and severity was more common in adults than children (77 vs. 45 %, P=0.002), however the prevalence of mitral valve prolapse was similar (54 %) and severe mitral regurgitation was demonstrated in < 10 % of subjects overall.
Ambulatory 24-hour monitoring identified frequent (> 1000/day) ventricular (9 %) and supraventricular extrasystoles (5 %) without a statistically significant difference between adult and child subjects.
The data presented in the current study is informative while limited by the lack of longitudinal data. Nonetheless, similar to other studies it identifies high rates of aortic root dilatation and mitral valve prolapse, both of which are equally prevalent amongst children and adults. A further important point to highlight is the risk of aortic dissection during pregnancy. Although the affected women in this study were not formerly diagnosed with Marfan syndrome at the time of dissection, we must never forget the importance of pre-pregnancy counselling and to have a low threshold for aortic root surgery in our female Marfan syndrome patients of child-bearing age.