Pectus excavatum and heritable disorders of the connective tissue

Pectus excavatum, the most frequent congenital chest wall deformity, may be rarely observed as a sole deformity or as a sign of an underlying connective tissue disorder. To date, only few studies have described correlations between this deformity and heritable connective tissue disorders such as Marfan, Ehlers-Danlos, Poland, MASS (Mitral valve prolapse, not progressive Aortic enlargement, Skeletal and Skin alterations) phenotype among others. When concurring with connective tissue disorder, cardiopulmonary and vascular involvement may be associated to the thoracic defect. Ruling out the concomitance of pectus excavatum and connective tissue disorders, therefore, may have a direct implication both on surgical outcome and long term prognosis. In this review we focused on biological bases of connective tissue disorders which may be relevant to the pathogenesis of pectus excavatum, portraying surgical and clinical implication of their concurrence.

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Long-Term Outcome after Aortic Valve-Sparing Root Surgery in Patients with Connective Tissue Disorder

10.1055/s-0040-1705407 ◽

2020 ◽

Author(s):

J. Petersen ◽

D. Gaekel ◽

E. Girdauskas ◽

H. Reichenspurner ◽

C. Detter

Keyword(s):

Aortic Valve ◽

Connective Tissue ◽

Connective Tissue Disorder ◽

Term Outcome ◽

Long Term Outcome ◽

Valve Sparing

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Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health

Genes ◽

10.3390/genes12060831 ◽

2021 ◽

Vol 12 (6) ◽

pp. 831

Author(s):

Jessica Warnink-Kavelaars ◽

Lisanne de Koning ◽

Lies Rombaut ◽

Mattijs Alsem ◽

Leonie Menke ◽

...

Keyword(s):

Connective Tissue ◽

General Health ◽

Normative Data ◽

Self Report ◽

Connective Tissue Disorders ◽

Ehlers Danlos Syndrome ◽

Validated Questionnaires ◽

Pain Disability ◽

Vas Scores ◽

Heritable Connective Tissue Disorders

Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated questionnaires. Methods. This observational, multicenter study included 107 children, aged 4–18 years, with Marfan syndrome (MFS), 58%; Loeys-Dietz syndrome (LDS), 7%; Ehlers-Danlos syndromes (EDS), 8%; and hypermobile Ehlers-Danlos syndrome (hEDS), 27%. The assessments included PROMIS Fatigue Parent–Proxy and Pediatric self-report, pain and general health Visual-Analogue-Scales (VAS) and a Childhood Health Assessment Questionnaire (CHAQ). Results. Compared to normative data, the total HCTD-group showed significantly higher parent-rated fatigue T-scores (M = 53 (SD = 12), p = 0.004, d = 0.3), pain VAS scores (M = 2.8 (SD = 3.1), p < 0.001, d = 1.27), general health VAS scores (M = 2.5 (SD = 1.8), p < 0.001, d = 2.04) and CHAQ disability index scores (M = 0.9 (SD = 0.7), p < 0.001, d = 1.23). HCTD-subgroups showed similar results. The most adverse sequels were reported in children with hEDS, whereas the least were reported in those with MFS. Disability showed significant relationships with fatigue (p < 0.001, rs = 0.68), pain (p < 0.001, rs = 0.64) and general health (p < 0.001, rs = 0.59). Conclusions. Compared to normative data, children and adolescents with HCTD reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. This new knowledge calls for systematic monitoring with standardized validated questionnaires, physical assessments and tailored interventions in clinical care.

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Biomechanical properties of the patellar tendon in children with heritable connective tissue disorders

European Journal of Applied Physiology ◽

10.1007/s00421-018-3862-7 ◽

2018 ◽

Vol 118 (7) ◽

pp. 1301-1307 ◽

Cited By ~ 1

Author(s):

Jacob K. Jensen ◽

Rie H. Nygaard ◽

Rene B. Svensson ◽

Hanne D. Hove ◽

S. Peter Magnusson ◽

...

Keyword(s):

Connective Tissue ◽

Patellar Tendon ◽

Biomechanical Properties ◽

Connective Tissue Disorders ◽

Heritable Connective Tissue Disorders

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Safety of Endoscopy in Heritable Connective Tissue Disorders

The American Journal of Gastroenterology ◽

10.14309/ajg.0000000000000189 ◽

2019 ◽

Vol 114 (8) ◽

pp. 1343-1345 ◽

Cited By ~ 2

Author(s):

Saikiran M. Kilaru ◽

Kenneth J. Mukamal ◽

Judy W. Nee ◽

Sveta S. Oza ◽

Anthony J. Lembo ◽

...

Keyword(s):

Connective Tissue ◽

Connective Tissue Disorders ◽

Heritable Connective Tissue Disorders

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Anterior mitral valve aneurysm perforation in a patient with preexisting aortic regurgitation

Monaldi Archives for Chest Disease ◽

10.4081/monaldi.2012.114 ◽

2015 ◽

Vol 78 (4) ◽

Author(s):

Rodolfo Citro ◽

Angelo Silverio ◽

Roberto Ascoli ◽

Antonio Longobardi ◽

Eduardo Bossone ◽

...

Keyword(s):

Heart Failure ◽

Mitral Valve ◽

Connective Tissue ◽

Mitral Regurgitation ◽

Transesophageal Echocardiography ◽

Aortic Regurgitation ◽

Severe Mitral Regurgitation ◽

Connective Tissue Disorders ◽

Threatening Condition ◽

Life Threatening

We report the case of a 71-year-old man hospitalized for acute heart failure. Transthoracic and transesophageal echocardiography showed mitral valve aneurysm (MVA) rupture and severe mitral regurgitation. No vegetations but significant aortic regurgitation were also observed. MVA perforation is a rare life-threatening condition that typically occurs as a complication of endocarditis but may also be associated with other diseases, in particular connective tissue disorders. In the present case, the absence of such etiology suggests a possible role for of aortic regurgitation in MVA rupture secondary to a “jet lesion” mechanism.

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