Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non‐compaction cardiomyopathy

Wang, Jia‐Chi; Dang, Linda; Mondal, Tapas; Khan, Aneal

doi:10.1002/ajmg.a.32004

Cited by 26 publications

(31 citation statements)

References 27 publications

(35 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…2009). LVNC can occur in patients with malformation syndromes, including velocardiofacial syndrome (Madan et al 2010), Sotos syndrome , as well as states of aneuploidy and mosaicism (Beken et al 2011;McMahon et al 2005;Sellars et al 2011;Wang et al 2007). Furthermore, LVNC has been reported in association with several distinct inborn errors of metabolism (IEM) including Barth syndrome (Bleyl et al 1997 (Finsterer et al 2002); mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome as well as less well-defined mitochondriopathies (Finsterer et al 2006;St€ ollberger et al 1999).…”

Section: Discussionmentioning

confidence: 99%

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Tanpaiboon

Sloan

Callahan³

et al. 2012

JIMD Reports

View full text Add to dashboard Cite

Cobalamin C disease (cblC), a form of combined methylmalonic acidemia and hyperhomocysteinemia caused by mutations in the MMACHC gene, may be the most common inborn error of intracellular cobalamin metabolism. The clinical manifestations of cblC disease are diverse and range from intrauterine growth retardation to adult onset neurological disease. The occurrence of structural heart defects appears to be increased in cblC patients and may be related to the function of the MMACHC enzyme during cardiac embryogenesis, a concept supported by the observation that Mmachc is expressed in the bulbis cordis of the developing mouse heart. Here we report an infant who presented with hydrops fetalis, ventricular dysfunction, and echocardiographic evidence of LVNC, a rare congenital cardiomyopathy. Metabolic evaluations, complementation studies, and mutation analysis confirmed the diagnosis of cblC disease. These findings highlight an intrauterine cardiac phenotype that can be displayed in cblC disease in association with nonimmune hydrops.

show abstract

Section: Discussionmentioning

confidence: 99%

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Tanpaiboon

Sloan

Callahan³

et al. 2012

JIMD Reports

View full text Add to dashboard Cite

show abstract

“…Indications for fetal echocardiography were an abnormal screening examination (n = 6) [18,23,27,34,46,54], fetal arrhythmia/bradycardia (n = 2) [42,61] and family screening (n = 1) [25], and indications were not reported in the remaining nine cases. In six cases, VHT affected also the right ventricle [6,15,27,54,56,59]. In six cases, LVHT was associated with fetal arrhythmia (complete heart block n = 2, bradycardia n = 2, tachycardia n = 1, WPW syndrome n = 1) [18,27,42,46,54,56].…”

Section: Cases With Fetal Echocardiography But Only Postnatal Diagnosmentioning

confidence: 99%

“…Additionally, we found 16 publications of 18 cases (females n = 6, males n = 11, gender unknown n = 1) in whom fetal echocardiography was carried out in gestational weeks 18-37 (mean 26 weeks) but did not show LVHT, whereas LVHT was diagnosed at a mean postnatal age of 176 days (1-1460) by echocardiography (n = 15) [5,6,18,22,25,27,34,38,42,43,46,54,59,61] or by autopsy (n = 3) [6,23,56]. Indications for fetal echocardiography were an abnormal screening examination (n = 6) [18,23,27,34,46,54], fetal arrhythmia/bradycardia (n = 2) [42,61] and family screening (n = 1) [25], and indications were not reported in the remaining nine cases.…”

Section: Cases With Fetal Echocardiography But Only Postnatal Diagnosmentioning

confidence: 99%

“…In the remaining 12 cases, one or more structural cardiac abnormalities were reported: pulmonary stenosis (n = 4) [34,56,59,61], tricuspid regurgitation (n = 3) [22,34,54], ventricular septal defect (n = 3) [25,38,43], mitral regurgitation (n = 2) [6], tricuspid stenosis (n = 1) [23], premature closure of the arterial duct (n = 1) [22], aortic valve dysplasia (n = 1) [56] and atrial septal defect (n = 1) [59].…”

Section: Cases With Fetal Echocardiography But Only Postnatal Diagnosmentioning

confidence: 99%

“…Genetic or metabolic abnormalities were Xq28 mutations (n = 3) [6], mitochondriopathy (n = 1) [18], MYBPC3 gene mutation (n = 1) [25] and trisomy 22 (n = 1) [59].…”

Section: Cases With Fetal Echocardiography But Only Postnatal Diagnosmentioning

confidence: 99%

See 2 more Smart Citations

Fetal Ventricular Hypertrabeculation/Noncompaction: Clinical Presentation, Genetics, Associated Cardiac and Extracardiac Abnormalities and Outcome

2015

View full text Add to dashboard Cite

Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology. Aim of the review was to summarize the current knowledge about fetal LVHT, including clinical presentation, associated cardiac and extracardiac abnormalities and outcome. In 88 cases, LVHT was diagnosed by fetal echocardiography. In 36 %, no additional cardiac abnormalities were reported; in the remaining 64 %, one or more cardiac abnormalities were reported. Eight cases died prenatally, 17 were electively terminated, and 24 patients died after birth. Six patients were lost to follow-up, and 33 patients are alive at a mean age of 26 months. Surviving cases presented less frequently with fetal hydrops (13 vs. 62 %, p = 0.0004), complete heart block (27 vs. 78 %, p = 0.0076), more than three associated cardiac abnormalities (9 vs. 47 %, p = 0.0008) and more frequently with isolated LVHT (52 vs. 19 %, p = 0.009) than cases who died. Of the surviving patients, 16 received pharmacotherapy, three received pacemakers, eight underwent surgical procedures and four underwent heart transplantation. Postnatal regression of left ventricular hypertrophy and development of LVHT was found in four cases, improvement in cardiac function in two, and regression of right VHT in two. At autopsy, endocardial fibrosis was the most frequent abnormality in 92 %. Thirty-eight percentage of cases with fetal LVHT survived. Fetal and postnatal echocardiographic findings challenge the "embryonic pathogenetic" hypothesis of LVHT. Furthermore, fetal pathoanatomic findings like endocardial fibrosis might play a role in clarifying the still unsolved pathogenesis of LVHT.

show abstract

Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis

Benn

2015

Genetic Disorders and the Fetus

View full text Add to dashboard Cite

Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non‐compaction cardiomyopathy

Cited by 26 publications

References 27 publications

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Fetal Ventricular Hypertrabeculation/Noncompaction: Clinical Presentation, Genetics, Associated Cardiac and Extracardiac Abnormalities and Outcome

Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis

Contact Info

Product

Resources

About