Aortic diseases in children with genetic syndromes

Objective: To estimate the risk factors and the particularities of clinical and paraclinical issues in children with congenital aortic diseases and genetic syndrome in order to develop an algorithm of early diagnosis and advisable treatment.

Methods: We present a randomized clinical trial based on retrospective and prospective analysis of 27 patients aged between 7 and 18 years hospitalized in the cardiology department of Mother and Child Institute during 2017-2019. All these patients have one of the following aortic diseases: aortic coarctation, aortic stenosis or bicuspid aortic valve, but criterion of sampling is the evidence of a genetic syndrome: Marfan, Halt-Oram or Enhler-Danlos syndrome. On this line, first lot contains 20 non-syndromic patients and the second lot consists of 7 patients with a genetic syndrome. We surveyed 162 parameters and all data were introduced in an Excel system for statistical procession by SPSS (Statistical Package for the Social Science) version 20 in order to obtain arithmetic means (M), average errors of arithmetic means (m), statistical difference status (p). Only statistical important parameters are represented in the article.

Results: The age of mothers at the conceiving is 23.85 91 years in the first lot and 30.29 ± 1.73 years in the second lot. In non-syndromic patients Apgar 1 records 8.55 ± 0.11 points, in syndromic lot -7.71 ± 0.18 points, p< 0.001. Apgar 2 – 9.10 ± 0.12 points in the first lot and 8.92 ± 0.18 points in the second one. Others malformation are present in 85.7% in second lot and 5% in the first one, p< 0.001. Growth disorders represent 15% in the first lot and 85.7% in the second lot, p< 0.01. Chest deformity, visual disturbances, defective embryoge-nesis are reported exclusively in patient with Marfan Syndrom (71.4%), p< 0.001. NYHA I-II CI is attested in 50% of patients in the first lot and in 85.71% in the second one, p< 0.001. Frequency of heart contractions is 59.75 ± 5.39 beats/minute in first lot, and for second lot 77.14 ± 2.14 beats/minute, p> 0.01. Oxygen satura-tion- 97.75 ± 0.19% in the first lot and 96.43 ± 0.43% in the second, p> 0.01. There is a statistical difference between the value of aortic size in first lot- 14.17 ± 0.45 mm and second one – 15.24 ± 0.19mm, p< 0.05. There is no veridical statistical difference between lots of study concerning drug treatment, p< 0.05, because of comorbidity in syndromic patients which modifies essentially the compliance with treatment. Connective tissue disorder represents 85.71% in the second lot, and it explains the absence of surgical management with the aim to prevent complications.

Conclusions: The association of genetic syndromes in children with aortic diseases is an important burden for the healthcare system and it demands ongoing research and interdisciplinary approach, in order to optimize the management of these patients, considering essential, that in patient with genetic syndromes there is a worse situation in comparison with patients without genetic syndromes regarding this study’s data about risk factors, clinical and paraclinical condition, treatment features, that allows us to conclude that an individualized treatment approach is needed for each one, syndromic and non-syndromic patient, in correlation with general state and comborbidity, as it is impossible to design a common unique treatment algorithm for the two lots of study.


ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
The Romanian Journal of Cardiology is indexed by:
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CODE: 379
CME Credits: 10 (Romanian College of Physicians)