Down-Klinefelter syndrome (48,XXY,+21) in a Child with Congenital Heart Disease: Case Report and Literature Review

Shen, Zheng; Zou, Chao; Shang, Shi Qiang; Jiang, Ke

doi:10.2169/internalmedicine.51.7097

Cited by 21 publications

(20 citation statements)

References 13 publications

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“…Among 3550 KS subjects, Swerdlow et al (7) reported that CCD was the specific cause of mortality in five patients (Standardized Mortality Ratio = 7.3). To the best of our knowledge, all cases of CCD in KS (68,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94) are fully reported in the Supplemental Data 1, see section on supplementary data given at the end of this article.…”

Section: Structural and Functional Cardiovascular Abnormalities In Klmentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives

Salzano

Arcopinto

Marra

et al. 2016

European Journal of Endocrinology

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Klinefelter syndrome (KS) is the most frequently occurring sex chromosomal aberration in males, with an incidence of about 1 in 500 -700 newborns. Data acquired from large registry-based studies revealed an increase in mortality rates among KS patients when compared with mortality rates among the general population. Among all causes of death, metabolic, cardiovascular, and hemostatic complication seem to play a pivotal role. KS is associated, as are other chromosomal pathologies and genetic diseases, with cardiac congenital anomalies that contribute to the increase in mortality. The aim of the current study was to systematically review the relationships between KS and the cardiovascular system and hemostatic balance. In summary, patients with KS display an increased cardiovascular risk profile, characterized by increased prevalence of metabolic abnormalities including Diabetes mellitus (DM), dyslipidemia, and alterations in biomarkers of cardiovascular disease. KS does not, however, appear to be associated with arterial hypertension. Moreover, KS patients are characterized by subclinical abnormalities in left ventricular (LV) systolic and diastolic function and endothelial function, which, when associated with chronotropic incompetence may led to reduced cardiopulmonary performance. KS patients appear to be at a higher risk for cardiovascular disease, attributing to an increased risk of thromboembolic events with a high prevalence of recurrent venous ulcers, venous insufficiency, recurrent venous and arterial thromboembolism with higher risk of deep venous thrombosis or pulmonary embolism. It appears that cardiovascular involvement in KS is mainly due to chromosomal abnormalities rather than solely on low serum testosterone levels. On the basis of evidence acquisition and authors' own experience, a flowchart addressing the management of cardiovascular function and prognosis of KS patients has been developed for clinical use.

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Section: Structural and Functional Cardiovascular Abnormalities In Klmentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives

Salzano

Arcopinto

Marra

et al. 2016

European Journal of Endocrinology

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“…However, in our case, the parents were very young. From the published cases, we can conclude that the paternal ages are remarkably different in patients with a double aneuploidy of 48,XXY,+21 associated with CHD (Table 1) [7–13]. The exclusion of advanced maternal age as risk factor for chromosomal non disjunction in the present case suggests the existence of other risk factors.…”

Section: Discussionmentioning

confidence: 55%

Double Aneuploidy 48,xxy,+21 Associated With a Congenital Heart Defect in a Neonate

Shu

Zou

Shen

2013

Balkan Journal of Medical Genetics

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A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of DS and Klinefelter syndrome (KS). Until now, only seven cases of double aneuploidy associated with CHD defect have been reported.

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“…In a review by Shen et al (2012), of 63 cases of double aneuploidy 48,XXY,+21, only 15% of reports revealed some degree of congenital heart disease. According to our research, there seem to be differences between the frequency of congenital heart disease among patients with Down-Klinefelter and DS, because the incidence of heart disease in patients with DS can reach 60% of cases, according to the literature.…”

Section: Discussionmentioning

confidence: 99%

Research Article Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease.

Rodrigues¹,

Morgade²,

Dias³

et al. 2017

Genet. Mol. Res.

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ABSTRACT. Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B and significant left ventricular failure, moderate atrioventricular valve regurgitation, right-sided heart failure, and preserved systolic function. Cytogenetic analysis of the newborn showed double aneuploidy 48,XXY,+21. The maternal karyotype was 46,XX,inv(9)(p11q13) and the paternal was 46,XY. Characteristics associated with Down syndrome are observed in newborns; on the other hand, children under 10 months of age and neonates may show little or no signs of the Klinefelter syndrome. According to this study, there seem to be differences between the frequency of congenital heart disease among patients with DownKlinefelter and Down syndrome. At about 11 months of age, the child died after undergoing heart surgeries. The early cytogenetic study is important for better diagnosis and management of the disease.

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Down-Klinefelter syndrome (48,XXY,+21) in a Child with Congenital Heart Disease: Case Report and Literature Review

Cited by 21 publications

References 13 publications

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives

Double Aneuploidy 48,xxy,+21 Associated With a Congenital Heart Defect in a Neonate

Research Article Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease.

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