Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study

Demolder, Anthony; Bianco, Lisa; Caruana, Maryanne; Cervi, Elena; Evangelista, Arturo; Jondeau, Guillaume; Buttigieg, Lisa Lauren; López-Sainz, Ángela; Delmás, Elena Montañés; Pini, Alessandro; Sabaté-Rotés, Anna; Szöcs, Katalin; Tchitchinadze, Maria; Teixidó-Turà, Gisela; Kodolitsch, Yskert Von; Muiño-Mosquera, Laura; Backer, Julie De

doi:10.1016/j.ejmg.2022.104503

Cited by 8 publications

(4 citation statements)

References 36 publications

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“…Dilation of the heart with significant regurgitation and decreased ejection fraction might lead to sudden arrhythmic death. Individuals with MFS can display myocardial impairment independent of valvular abnormalities and such cardiomyopathy may lead to or be associated with ventricular arrhythmias [ 26 – 28 ]. Animals that had abnormal heart function also appeared to have increased heart weight, increased aortic diameter, and hyperplastic aortic leaflets.…”

Section: Discussionmentioning

confidence: 99%

TGFβ-2 haploinsufficiency causes early death in mice with Marfan syndrome

et al. 2023

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Section: Discussionmentioning

confidence: 99%

TGFβ-2 haploinsufficiency causes early death in mice with Marfan syndrome

et al. 2023

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“…On the other hand, no significant difference was found between these two populations regarding ventricular arrhythmia. They also reported an association between mitral annular disjunction (MAD) and ventricular arrhythmias in MFS patients (Demolder et al) [75]. Further studies are needed to show the prevalence of these events in the pediatric MFS population.…”

Section: Supraventricular (Sv) and Ventricular Arrhythmiasmentioning

confidence: 96%

Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care

Baban,

Parlapiano,

Cicenia

et al. 2024

JCDD

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Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, typically involving a triad of cardiovascular, eye, and skeletal manifestations. Other multisystemic features are often underdiagnosed. Moreover, the disease is characterized by age related penetrance. Diagnosis and management of MFS in the adult population are well-described in literature. Few studies are focused on MFS in the pediatric population, making the clinical approach (cardiac and multiorgan) to these cases challenging both in terms of diagnosis and serial follow-up. In this review, we provide an overview of MFS manifestations in children, with extensive revision of major organ involvement (cardiovascular ocular and skeletal). We attempt to shed light on minor aspects of MFS that can have a significant progressive impact on the health of affected children. MFS is an example of a syndrome where an early personalized approach to address a dynamic, genetically determined condition can make a difference in outcome. Applying an early multidisciplinary clinical approach to MFS cases can prevent acute and chronic complications, offer tailored management, and improve the quality of life of patients.

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“…This can be considered, especially in centers experienced with subcutaneous ICD implantation. Overall, the patient had an arrhythmogenic mitral valve prolapse phenotype [8,10] with one high-risk feature from ECG recordings (NSVT) and three phenotypic risk features from imaging (MAD, redundant leaflets, severe left atrial dilatation, and fibrosis involving the mitral apparatus, i.e., posteromedial papillary muscle and adjacent basal inferolateral wall). The case was discussed in an MDT and the consensus was that an ICD could have been prophylactically implanted-after shared decision making with the patient.…”

Section: Family History Of Mfs Absent Family History Of Mfs Presentmentioning

confidence: 99%

“…However, non-aortic cardiac disease, most notably in the form of mitral valve prolapse, often complements the phenotype. Recently, impaired myocardial function and arrhythmias have drawn attention, as they have been increasingly reported as additional causes of morbidity and mortality in large MFS surveillance groups [ 5 , 6 , 7 , 8 ]. Cardiovascular imaging is therefore fundamental to the screening, diagnosis, and life-long follow-up of this population.…”

Section: Introductionmentioning

confidence: 99%

Marfan Syndrome beyond Aortic Root—Phenotyping Using Cardiovascular Magnetic Resonance Imaging and Clinical Implications

Nyktari,

Drakopoulou,

Rozos

et al. 2023

Medicina

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Marfan syndrome (MFS) is an inherited autosomal-dominant connective tissue disorder with multiorgan involvement including musculoskeletal, respiratory, cardiovascular, ocular, and skin manifestations. Life expectancy in patients with MFS is primarily determined by the degree of cardiovascular involvement. Aortic disease is the major cardiovascular manifestation of MFS. However, non-aortic cardiac diseases, such as impaired myocardial function and arrhythmia, have been increasingly acknowledged as additional causes of morbidity and mortality. We present two cases demonstrating the phenotypical variation in patients with MFS and how CMR (Cardiovascular Magnetic Resonance) could serve as a “one stop shop” to retrieveS all the necessary information regarding aortic/vascular pathology as well as any potential underlying arrhythmogenic substrate or cardiomyopathic process.

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Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study

Cited by 8 publications

References 36 publications

TGFβ-2 haploinsufficiency causes early death in mice with Marfan syndrome

TGFβ-2 haploinsufficiency causes early death in mice with Marfan syndrome

Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care

Marfan Syndrome beyond Aortic Root—Phenotyping Using Cardiovascular Magnetic Resonance Imaging and Clinical Implications

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