Dilated cardiomyopathy associated with a mutation in the dispatched RND transporter family member 1 gene

Abstract Dilated cardiomyopathy is the most common presentation of cardiomyopathy in children with 20–35% of patients having an identified genetic component. There are more than 30 genes implicated in the pathogenesis of dilated cardiomyopathy. We present the first report of a female infant with dilated cardiomyopathy with a genetic variant in the dispatched RND transporter family member 1 gene.

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Expression of dispatched RND transporter family member 1 is decreased in the diaphragmatic and pulmonary mesenchyme of nitrofen-induced congenital diaphragmatic hernia

Pediatric Surgery International ◽

10.1007/s00383-018-4374-6 ◽

2018 ◽

Vol 35 (1) ◽

pp. 35-40

Author(s):

Toshiaki Takahashi ◽

Florian Friedmacher ◽

Julia Zimmer ◽

Prem Puri

Keyword(s):

Congenital Diaphragmatic Hernia ◽

Family Member ◽

Diaphragmatic Hernia ◽

Transporter Family ◽

Rnd Transporter

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Faculty Opinions recommendation of Expression of the ammonia transporter family member, Rh B Glycoprotein, in the human kidney.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717978511.793471082 ◽

2013 ◽

Author(s):

Jeff Kraut

Keyword(s):

Family Member ◽

Human Kidney ◽

Transporter Family

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Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery–Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.

Stem Cell Research ◽

10.1016/j.scr.2020.101714 ◽

2020 ◽

Vol 43 ◽

pp. 101714 ◽

Cited By ~ 1

Author(s):

Kseniya Perepelina ◽

Polina Klauzen ◽

Aleksandr Khudiakov ◽

Anna Zlotina ◽

Yulia Fomicheva ◽

...

Keyword(s):

Muscular Dystrophy ◽

Dilated Cardiomyopathy ◽

Genetic Variant

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NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS

AACE Clinical Case Reports ◽

10.4158/accr-2019-0283 ◽

2020 ◽

Vol 6 (1) ◽

pp. e1-e4

Author(s):

Meghan E. Fredette ◽

Kristin C. Lombardi ◽

Angela L. Duker ◽

Catherine O. Buck ◽

Chanika Phornphutkul ◽

...

Keyword(s):

Genetic Testing ◽

Dilated Cardiomyopathy ◽

Subclinical Hypothyroidism ◽

Reference Range ◽

Postnatal Growth ◽

Left Ventricular ◽

Female Infant ◽

Compound Heterozygous ◽

Z Score ◽

Primordial Dwarfism

Objective: Microcephalic primordial dwarfism (MPD) is a group of clinically and genetically heterogeneous disorders which result in severe prenatal and postnatal growth failure. X-ray repair cross-complementing protein 4 ( XRCC4) is a causative gene for an autosomal recessive form of MPD. The objective of this report is to describe novel XRCC4 mutations in a female infant with MPD, dilated cardiomyopathy, and subclinical hypothyroidism. Methods: Genetic testing was performed using a comprehensive next generation sequencing panel for MPD, followed by targeted XRCC4 gene sequencing. Results: We report the case of a 970-gram, 35-cm, female infant (weight z score −5.05, length z score −4.71) born at 36 weeks and 3 days gestation. Physical examination revealed triangular facies, micrognathism, clinodactyly, and second and third toe syndactyly. Initial echocardiogram at birth was normal. Follow-up echocardiogram at 60 days of life revealed dilated cardiomyopathy with moderate left ventricular systolic dysfunction (ejection fraction was 40 to 45%), and anticongestive therapy was initiated. Thyroid testing revealed subclinical hypothyroidism with elevated thyroid-stimulating hormone of 13.0 μIU/mL (reference range is 0.3 to 5.0 μIU/mL) and normal free thyroxine by dialysis of 1.6 ng/dL (reference range is 0.8 to 2.0 ng/dL). Levothyroxine was initiated. Postnatal growth remained poor (weight z score at 3 months −4.93, length z score at 3 months −6.48), including progressive microcephaly (head circumference z score at 3 months −10.94). Genetic testing revealed novel compound heterozygous XRCC4 variants in trans: c.628A>T and c.638+3A>G. The child ultimately had cardiopulmonary arrest and died at 6 months of life. Conclusion: Molecular diagnosis in MPD is key to defining the natural history, management, and prognosis for patients with these rare disorders.

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Acetaminophen and Acetylsalicylic Acid Exposure in a Preterm Infant after Maternal Overdose

American Journal of Perinatology ◽

10.1055/s-0038-1661405 ◽

2018 ◽

Vol 36 (02) ◽

pp. 136-140 ◽

Cited By ~ 2

Author(s):

Leeann Pavlek ◽

Monica Kraft ◽

Caitlyn Simmons ◽

Mary Ryan ◽

Pavel Prusakov ◽

...

Keyword(s):

Acetylsalicylic Acid ◽

Preterm Infant ◽

Premature Infants ◽

Acid Exposure ◽

Female Infant ◽

Poison Control ◽

First Report ◽

Salicylate Level ◽

Prenatal Vitamins

AbstractHere, we review the case of a 26 1/7 weeks' gestation premature female infant born to a mother who intentionally ingested a large quantity of Tylenol, aspirin, quetiapine, and prenatal vitamins. The neonate subsequently had markedly elevated levels of both Tylenol and aspirin when checked on the first day of life. While overall clinically stable, the neonate did demonstrate coagulopathy as evidenced by abnormal coagulation studies. Both poison control and a pediatric gastroenterologist/hepatologist were consulted. She successfully tolerated a course of N-acetylcysteine; her subsequent Tylenol level was markedly decreased and the neonate exhibited no further effects of toxicity. The salicylate level decreased on its own accord. To our knowledge, this is the first report of a neonate at 26 weeks' gestation that has been successfully managed for supratherapeutic concentrations of acetaminophen and acetylsalicylic acid secondary to maternal ingestion. While rare, this case may serve as a reference for the effectiveness of N-acetylcysteine in premature infants in such instances.

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