scholarly journals Clinical Manifestations of Papillary Muscle Dysfunction in Ehlers Danlos Syndrome

1975 ◽  
Vol 16 (3) ◽  
pp. 235-242 ◽  
Author(s):  
J.A., ANTANI ◽  
H.V. SRINIVAS ◽  
A. SHIVASHANKAR
Keyword(s):  
Papillary Muscle ◽  
Clinical Manifestations ◽  
Muscle Dysfunction ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Papillary Muscle Dysfunction

Traumatic papillary muscle dysfunction: attempted mitral-valve repair and eventual prosthetic replacement

1988 ◽  
Vol 9 (9) ◽  
pp. 1030-1033 ◽  
Author(s):  
S. AL KASAB ◽  
S. WESTABY ◽  
M. A. AL ZAIBAG ◽  
M. HABBAB ◽  
K. A. GUNAWARDENA ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Mitral Valve Repair ◽  
Papillary Muscle ◽  
Muscle Dysfunction ◽  
Prosthetic Replacement ◽  
Valve Repair ◽  
Papillary Muscle Dysfunction

scholarly journals The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Xiaolin Ni ◽  
Chenxi Jin ◽  
Yan Jiang ◽  
Ou Wang ◽  
Mei Li ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Clinical Manifestations ◽  
Joint Hypermobility ◽  
Minor Trauma ◽  
X Rays ◽  
Ehlers Danlos Syndrome ◽  
Chinese Origin ◽  
First Case ◽  
Blue Sclerae ◽  
Danlos Syndrome

Abstract Background Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility. Deficiency of lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) gene has been identified as the pathogenic cause of kEDS (kEDS-PLOD1). Up to now, kEDS-PLOD1 has not been reported among Chinese population. Case presentation A 17-year-old Chinese male patient presenting with hypotonia, joint hypermobility and scoliosis was referred to our hospital. After birth, he was found to have severe hypotonia leading to delayed motor development. Subsequently, joint hypermobility, kyphoscoliosis and amblyopia were found. Inguinal hernia was found at age 5 years and closed by surgery. At the same time, he presented with hyperextensible and bruisable velvety skin with widened atrophic scarring after minor trauma. Dislocation of elbow joint was noted at age of 6 years. Orthopedic surgery for correction of kyphoscoliosis was performed at age 10 years. His family history was unremarkable. Physical examination revealed elevated blood pressure. Slight facial dysmorphologies including high palate, epicanthal folds, and down-slanting palpebral fissures were found. He also had blue sclerae with normal hearing. X-rays revealed severe degree of scoliosis and osteopenia. The Echocardiography findings were normal. Laboratory examination revealed a slightly elevated bone turnover. Based on the clinical manifestations presented by our patient, kEDS was suspected. Genetic analysis revealed a novel homozygous missense mutation of PLOD1 (c.1697 G > A, p.C566Y), confirming the diagnosis of kEDS-PLOD1. The patient was treated with alfacalcidol and nifedipine. Improved physical strength and normal blood pressure were reported after 12-month follow-up. Conclusions This is the first case of kEDS-PLOD1 of Chinese origin. We identified one novel mutation of PLOD1, extending the mutation spectrum of PLOD1. Diagnosis of kEDS-PLOD1 should be considered in patients with congenital hypotonia, progressive kyphoscoliosis, joint hypermobility, and skin hyperextensibility and confirmed by mutation analysis of PLOD1.

scholarly journals Changing haemodynamics in patient with papillary muscle dysfunction.

Heart ◽  
1975 ◽  
Vol 37 (4) ◽  
pp. 445-448 ◽  
Author(s):  
W Markiewicz ◽  
S Amikam ◽  
N Roguin ◽  
E Riss
Keyword(s):  
Papillary Muscle ◽  
Muscle Dysfunction ◽  
Papillary Muscle Dysfunction

scholarly journals Spontaneous perforation of the stomach and duodenum in children with Ehlers‑Danlos syndrome

2021 ◽  
Vol 1 (1) ◽  
pp. 176-182
Author(s):  
M. A. Amanova ◽  
A. N. Smirnov ◽  
V. V. Kholostova ◽  
A. G. Mannanov ◽  
S. A. Voina ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Collagen Synthesis ◽  
Soft Tissues ◽  
Clinical Manifestations ◽  
Elastic Fibers ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
The Individual ◽  
Rupture Of The Spleen ◽  
Danlos Syndrome

Ehlers-Danlos syndrome is based on hereditary systemic dysfunction of the connective tissue caused by impaired collagen synthesis. Depending on the individual mutation, the clinical manifestations of the syndrome can range from mild to life-threatening. The result of a violation of collagen synthesis is the proliferation of elastic fibers, loss of compactness and disorientation of collagen fibers, fragility of the vessel wall and expansion of their lumen. And, given that connective tissue fibers are present in almost every organ, the manifestations of Ehlers-Danlos syndrome are polymorphic and generalized, which often complicates the verification of this disease. The most clinically important is the Ehlers-Danlos Syndrome IV (vascular) type, which occurs as a result of mutations in the COL3A1 and COL1A1 genes and manifests itself in a tendency to spontaneous rupture of large arteries and hollow organs (intestinal perforation, strokes, rupture of the spleen, etc.), poor wound healing, fragility soft tissues, impaired hemostasis. The article describes our own experience of treating 4 patients with spontaneous ruptures of internal organs, including those of a recurrent nature.

scholarly journals A Clinicopathological Study on the Papillary Muscle Dysfunction

1977 ◽  
Vol 18 (2) ◽  
pp. 178-190 ◽  
Author(s):  
Masaya SUGIURA ◽  
Shin-ichiro OHKAWA ◽  
Chizuko KAMATA ◽  
Keiji UEDA
Keyword(s):  
Papillary Muscle ◽  
Muscle Dysfunction ◽  
Clinicopathological Study ◽  
Papillary Muscle Dysfunction

POSTERIOR MITRAL REGURGITATION IN GIRLS POSSIBLY DUE TO POSTERIOR PAPILLARY MUSCLE DYSFUNCTION

PEDIATRICS ◽  
1968 ◽  
Vol 42 (2) ◽  
pp. 276-290
Author(s):  
V. V. Sreenivasan ◽  
Jerome Liebman ◽  
Donald S. Linton ◽  
Thomas D. Downs
Keyword(s):  
Mitral Regurgitation ◽  
Papillary Muscle ◽  
Functional Anatomy ◽  
Muscle Dysfunction ◽  
Posterior Leaflet ◽  
T Wave ◽  
Posterior Papillary Muscle ◽  
Angular Analysis ◽  
Papillary Muscle Dysfunction

Nine girls are presented with variable late systolic murmurs (usually best heard sitting up); five of the nine had mid systolic clicks, minimal to mild mitral regurgitation, and striking variable primary electrocardiographic T wave abnormalities. Data from a tenth girl, who has not yet had cardiac catheterization, with similar clinical features are included. The functional anatomy of the mitral valve and some of the factors that give rise to such a picture are discussed. A detailed cineangiographic analysis of the mitral regurgitation is made with stress on the role of the posterior leaflet and posterior papillary muscle. A quantitative angular analysis of the T waves is made. The vectorcardiogram's superiority to the standard electrogram is made clear in this regard. We believe that this syndrome is caused by posterior papillary muscle dysfunction, though the etiology, including the reason why only girls should be affected, is not known. The prognosis is believed to be good.

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