Pulmonary hypertension in a child with mitochondrial A3243G point mutation

Brain and Development

Volumn 34, Issue 10, 2012, Pages 866-868

  Hung, Po Cheng ^a   Wang, Huei Shyong ^a   Chung, Hung Tao ^a   Hwang, Mao Sheng ^a   Ro, Long Sun ^a  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

Author keywords

Child; Mitochondrial disease; Pulmonary hypertension

Indexed keywords

CARNITINE; DIGOXIN; FUROSEMIDE; LACTIC ACID; PYRUVIC ACID; UBIDECARENONE;

ARTICLE; CARDIOMEGALY; CASE REPORT; CHILD; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSPNEA; ECHOCARDIOGRAPHY; FATIGUE; GENERALIZED EDEMA; HEART RIGHT VENTRICLE FAILURE; HUMAN; LACTATE BLOOD LEVEL; LUNG ARTERY PRESSURE; MALE; MUSCLE BIOPSY; POINT MUTATION; PRESCHOOL CHILD; PULMONARY HYPERTENSION; TRICUSPID VALVE REGURGITATION;

CHILD, PRESCHOOL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERTENSION, PULMONARY; MALE; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; POINT MUTATION;

EID: 84867730283     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.02.011     Document Type: Article

References (8)

1. Mahoney D.J., Parise G., Tarnopolsky M.A. Nutritional and exercise-based therapies in the treatment of mitochondrial disease. Curr Opin Clin Nutr Metab Care 2002, 5:619-629.
2. Hawkins A., Tulloh R. Treatment of pediatric pulmonary hypertension. Vasc Health Risk Manag 2009, 5:509-524.
3. Simonneau G., Robbins I.M., Beghetti M., Channick R.N., Delcroix M., Denton C.P., et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol 2009, 54:S43-S54.
4. Runo J.R., Loyd J.E. Primary pulmonary hypertension. Lancet 2003, 361:1533-1544.
5. Tang K.J., Robbins I.M., Light R.W. Incidence of pleural effusions in idiopathic and familial pulmonary arterial hypertension patients. Chest 2009, 136:688-693.
6. Borchert A., Wolf N.I., Wilichowski E. Current concepts of mitochondrial disorders in childhood. Semin Pediatr Neurol 2002, 9:151-159.
7. Venditti C.P., Harris M.C., Huff D., Peterside I., Munson D., Weber H.S., et al. Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency. J Inherit Metab Dis 2004, 27:735-739.
8. National Pulmonary Hypertension Centres of the UK and Ireland Consensus statement on the management of pulmonary hypertension in clinical practice in the UK and Ireland. Thorax. 2008, 63(suppl 2):ii1-ii41.