Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cb1‐C type)

Brandstetter, Yuval; Weinhouse, Elliott; Splaingard, Mark; Tang, Thomas T.

doi:10.1002/ajmg.1320360208

Cited by 50 publications

(50 citation statements)

References 10 publications

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“…At least 15 patients with cblC have been reported with cardiomyopathy (Table 1; Baumgartner et al 1979;Brandstetter et al 1990;Carmel et al 1980;Chenel et al 1993;De Bie et al 2009;Longo et al 2005;Geraghty et al 1992;Ogier de Baulny et al 1998;Profitlich et al 2009). However, the specifics regarding the type and echocardiographic manifestations of the cardiac lesions have not been fully delineated.…”

Section: Discussionmentioning

confidence: 99%

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

Tanpaiboon

Sloan

Callahan³

et al. 2012

JIMD Reports

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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.

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Section: Discussionmentioning

confidence: 99%

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

Tanpaiboon

Sloan

Callahan³

et al. 2012

JIMD Reports

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“…Familial cases of TMA occur as a result of a genetic deficiency in this protease [Furlan et al, 1998]. Familial TMA is also described in patients with complement deficiencies and in infants with a disorder of vitamin B 12 metabolism cobalamin-C (Cbl-C) [Baumgartner et al, 1979;Brandstetter et al, 1990;Geraghty et al, 1992;Russo et al, 1992;Chenel et al, 1993].…”

Section: Introductionmentioning

confidence: 99%

Cobalamin disorder Cbl‐C presenting with late‐onset thrombotic microangiopathy

et al. 2002

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Two siblings, a boy age 12 and his sister age 4 years, presented with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. At age 13 years, the boy developed an episode of severe hypertensive encephalopathy and transient renal failure. Both children are attending normal school, have no neurologic symptoms, and only minimal pigmentary retinal abnormalities. Renal biopsy showed a chronic thrombotic microangiopathic nephropathy. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Fibroblasts showed decreased cobalamin uptake, reduced methyl- and adenosyl-cobalamin formation, and deficient incorporation of formate and propionate, compatible with the Cbl-C complementation group, but milder than that found in cells from most patients. Both patients and their father carry a balanced reciprocal translocation. Parenteral hydroxycobalamin treatment reduced the homocysteine levels, and methylmalonic acid disappeared. Increasing the dosage of hydroxycobalamin from 1 to 2.5, then 5 mg daily together with betaine, further reduced homocysteine levels (boy from 118 to 23 microM and girl from 59 to 14 microM). With this treatment, hemolysis has stopped, hematuria has disappeared, proteinuria has almost normalized, and creatinine clearance has been stable. Investigations for chronic thrombotic microangiopathy should include testing for this unusual but treatable disorder, regardless of age of presentation.

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“…12 Thromboembolic complications have been reported in cblC defect as the result of hyperhomocysteinemia in inducing vascular damage. 13 Brandstetter et al 14 reported an infant with a probable cblC defect, a bronchiolitislike illness, and acute cor pulmonale secondary to pulmonary thromboembolism. However, this patient also showed seizurelike activity and hypotonia.…”

Section: Discussionmentioning

confidence: 99%

Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension

Iodice

Chiara

Boenzi³

et al. 2013

Pediatrics

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Cobalamin C (cblC) defect is the most common inborn error of vitamin B12 metabolism. Clinical features vary as does the severity of the disease. In most cases, the clinical symptoms of cblC defect tend to appear during infancy or early childhood as a multisystem disease with severe neurologic, ocular, hematologic, renal, and gastrointestinal signs. The neurologic findings are common and include hypotonia, developmental delay, microcephaly, seizures hydrocephalus, and brain MRI abnormalities. We report a case of a young boy with cblC defect, who did not undergo newborn screening, presenting at the age of 2 years with isolated pulmonary hypertension as the leading symptom. This novel way of presentation of cblC defect enlarges the spectrum of inherited diseases that must be considered in the differential diagnosis of pulmonary hypertension.

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Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cb1‐C type)

Cited by 50 publications

References 10 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

Cobalamin disorder Cbl‐C presenting with late‐onset thrombotic microangiopathy

Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension

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