Ehlers-Danlos Syndrome and Congenital Heart Anomalies.

Maeda, Takeshi; Suzuki, Yasuyo; Haeno, Shigehiko; Asada, Midori; Hiramatsu, Ryouji; Tanaka, Fumiaki; Okada, Masaji; Suzuki, Tomokazu

doi:10.2169/internalmedicine.35.200

Cited by 10 publications

(3 citation statements)

References 7 publications

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“…Quadricuspid aortic valve has been reported in a 16‐year‐old boy with a clinical diagnosis of EDS Type II [Dotti et al, 1999] which would now be classified as the classic form of EDS [Beighton et al, 1998], and may be caused by a homozygous TNXB defect [Burch et al, 1997; Schalkwijk et al, 2001]. A case of recessive form of EDS in Japanese female sibs without accompanying molecular etiology was reported to involve congenital heart anomalies including atrial septal defect, ventricular septal defect, bicuspid right atrioventricular valve and persistent atrioventricular canal [Maeda et al, 1996]. Recently, a recessive cardiac valvular form of EDS due to COL1A2 mutations was reported [Schwarze et al, 2004].…”

Section: Discussionmentioning

confidence: 99%

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: Quadricuspid aortic valve and other midline defects

Chen

Kim

Shanbhag

et al. 2009

American J of Med Genetics Pt A

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Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disorder and is the most common cause of ambiguous genitalia in the newborn. The genes encoding 21-hydroxylase, CYP21A2, and tenascin-X (TNX), TNXB, are located within the HLA complex, in a region of high gene density termed the RCCX module. The module has multiple pseudogenes as well as tandem repeat sequences that promote misalignment during meiosis leading to complex gene rearrangements, deletions and gene conversion events. CYP21A2 mutations cause CAH, and TNX deficiency has been identified as a cause of hypermobility type Ehlers-Danlos syndrome (EDS). Here we report on a three-generation family with a heterozygous deletion encompassing CYP21A2 and TNXB that initially came to medical attention due to the diagnosis of CAH in the proband. Southern blotting and PCR-based analysis of the RCCX module revealed a CYP21A2 deletion extending into TNXB in one allele and a CYP21A2 point mutation in the other allele. Family history is notable for joint hypermobility. Additional radiological and clinical investigations showed a quadricuspid aortic valve, single kidney, bicornuate uterus and a bifid uvula in the proposita, and mitral valve prolapse in her mother. These findings further delineate the phenotype of the CAH-TNX contiguous gene deletion syndrome and point to an intersection of connective tissue dysplasias with a common gene-mediated endocrine disorder.

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Section: Discussionmentioning

confidence: 99%

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: Quadricuspid aortic valve and other midline defects

Chen

Kim

Shanbhag

et al. 2009

American J of Med Genetics Pt A

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“…Mitral prolapse is the most common, but bicuspid aortic valve, pulmonary valvular stenosis, ventricular, and atrial septal defects have also been reported [1,6]. However, our patient is the first reported in the literature with the association between EDS and quadricuspid aortic valve.…”

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confidence: 67%

Neurological involvement and quadricuspid aortic valve in a patient with Ehlers-Danlos syndrome

Dotti¹,

Stefano²,

Mondillo

et al. 1999

Journal of Neurology

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Sirs: Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited generalized disorders in the structure of connective tissue that results in fragility and hyperelasticity of skin, hypermobility of joints, and other characteristic findings including cardiovascular abnormalities. On the basis of clinical, biochemical, and genetic variability ten subtypes of EDS have been identified [1]. Neurological abnormalities have been found only rarely [2][3][4].We here report a patient with EDS associated with epilepsy, agenesis of the corpus callosum and quadricuspid aortic valve. This 16-yearold boy belongs to a family with autosomal dominant inherited disorder of connective tissue also affecting the father and the brother, diagnosed with EDS type II [1]. The child was born at term after uncomplicated pregnancy and delivery. He had normal developmental milestones, but was followed by a psychologist from age 12 years because of mild behavior disturbances. At age 15 he was referred to us because of the recurrence of right partial motor seizures that had begun 1 year before. Clinical examination showed skin hyperelasticity and joint hypermobility (Fig. 1 a,b). Psychological examination confirmed mild behavior disturbances. EEG revealed mild LETTER TO THE EDITORS J Neurol (1999) 246 : 612-613 © Steinkopff Verlag 1999 Fig. 1 a Abnormal skin elasticity. b Hypermobility of joints. c Agenesis of the corpus callosum on conventional T1-weighted sagittal magnetic resonance imaging of the brain. d Parasternal short axis echocardiographic view. Quadricuspid aortic valve with two normal (a, c) and two smaller cusps (b, d): a Right coronary cusp. b Smaller noncoronary cusp. c Left coronary cusp. d Accessory cusp on coronary echocardiography b c d a

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“…19 Congenital heart lesions associated with EDS include ASD, VSD, TOF, bicuspid aortic valve and persistent atrioventricular canal. 20 Patients with pectus excavatum complain of dyspnoea on exertion, chest pain, palpitations, frequent chest infections and often develop exerciseinduced asthma. 21 Pulmonary function test (PFT) will reveal a mild restrictive pattern with total lung capacity (TLC) and forced vital capacity (FVC) in the low-to-normal range.…”

Section: Pectus Excavatummentioning

confidence: 99%

Manifestations of Pulmonary Disease in Adults with Congenital Heart Disease

Singh¹,

Patel²,

Leung³

et al. 2022

The Indian Journal of Chest Diseases and Allied Sciences

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Children with congenital heart disease (CHD) are more frequently living into adulthood as their survival has improved due to availability of better medical and surgical management in recent times. Management of adults with CHD is emerging as new challenge in the field of medical science. Adults surviving with CHD for longer duration have been observed to develop more complications as compared to children. It is important to recognise and treat these complications early to reduce the morbidity. Pulmonary diseases are the most common systemic complications associated with adults having CHD. These individuals are presenting to clinics or emergency for pulmonary complaints, hence, pulmonologist must be aware about the pulmonary manifestations of CHD and their management.

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Ehlers-Danlos Syndrome and Congenital Heart Anomalies.

Cited by 10 publications

References 7 publications

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: Quadricuspid aortic valve and other midline defects

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: Quadricuspid aortic valve and other midline defects

Neurological involvement and quadricuspid aortic valve in a patient with Ehlers-Danlos syndrome

Manifestations of Pulmonary Disease in Adults with Congenital Heart Disease

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