Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach

Figures & data

Figure 1 PRISMA flow diagram.

Note: Articles identified, screened, eligible, and included in this systematic review.
Abbreviation: PRISMA, Preferred Reporting Items for Systematic Reviews and Meta-Analyses.

Table 1 Master citation table of reviewed abstracts

Citation	Level of evidence	Include yes/no	Maybe (explain)	If no, reason to exclude
Acehan et al^Citation15	IV	No		P, IT
Acehan et al^Citation16	IV	No		P
Aljishi and Ali^Citation17	V		IT
Ances et al^Citation18	V	Yes
Aprikyan and Khuchua^Citation19	V		IT
Avery^Citation20	V	Yes
Bachou et al^Citation21	V		IT
BSF^Citation22	V	No		IT
BSF^Citation23	V	Yes
BSF^Citation24	V	Yes
BSF^Citation25	V	No		IT
Bowen et al^Citation26	V	Yes
Bowron et al^Citation27	IV	No		IT
Bowron et al^Citation28	IV	No		IT
Brady et al^Citation29	V	No		IT
Brandner et al^Citation30	IV	No		P, IT
Cade et al^Citation31	IV	No		IT
Chang et al^Citation32	V	No		IT
Chicco and Sparagna^Citation33	V	No		IT
Clarke et al^Citation7	V	Yes
Claypool et al^Citation34	IV	No		P, IT
Claypool et al^Citation35	IV	No		IT
Claypool et al^Citation36	IV	No		P
Day et al^Citation37	IV	No		IT
Debnath and Addya^Citation38	IV	No		IT
Dedieu et al^Citation39	V	Yes
DiMauro^Citation40	V	No		IT
DiMauro and Gurgel-Giannetti^Citation41	V	No		IT
Donati et al^Citation42	V	No		IT
Fan et al^Citation43	V	No		IT
Feillet-Coudray et al^Citation44	V		P, IT
Ferri et al^Citation5	V		IT
Finsterer^Citation45	V		P, IT
Finsterer^Citation46	V	No		IT
Finsterer and Frank^Citation47	V	Yes
Finsterer and Stöllberger^Citation48	V	Yes
Finsterer and Stöllberger^Citation49	V		IT
Finsterer and Stöllberger^Citation50	V	No		P, IT
Finsterer et al^Citation51	V		IT
Finsterer et al^Citation52	IV	No		IT
Finsterer et al^Citation53	V	No		IT
Folsi et al^Citation54	V		IT
Garratt et al^Citation4	V		IT
Gerbert et al^Citation55	V	No		IT
Gilbert-Barness and Barness^Citation56	V	No		IT
Gonzalez^Citation57	IV	No		IT
Gonzalvez et al^Citation58	IV	No		IT
Gonzalvez et al^Citation59	IV	No		P
Hanke et al^Citation60	V	Yes
Hastings et al^Citation61	V	No		IT
Hauff^Citation62	IV	No		IT
Hauff and Hatch^Citation63	V	No		IT
Hauff and Hatch^Citation64	IV	No		P
Honzik et al^Citation65	IV		IT
Houtkooper et al^Citation66	IV	No		IT
Houtkooper et al^Citation67	IV	No		IT
Houtkooper and Vaz^Citation68	V	No		IT
Huang et al^Citation69	V		IT
Huhta et al^Citation70	V		IT
Jefferies^Citation3	V	Yes
Joshi^Citation71	IV	No		P
Karkucinska-Wieckowska et al^Citation72	IV	No		IT
Kelley^Citation8	V	Yes
Kim et al^Citation73	V	No		IT
Kirwin et al^Citation74	V	No		IT
Kirwin et al^Citation75	V	No		IT
Kleefstra et al^Citation76	V	No		P
Kulik et al^Citation77	IV		IT
Lamari et al^Citation78	V	No		P
Li et al^Citation79	IV	No		P, IT
Makaryan et al^Citation80	IV	No		P
Malhotra et al^Citation81	IV	No		P
Malhotra et al^Citation82	V		IT
Man et al^Citation83	V	No		IT
Mangat et al^Citation84	V	Yes
Marziliano et al^Citation85	V		IT
Mayr^Citation86	V	No		IT
Mazurová et al^Citation87	V	No		IT
Mazzocco et al^Citation11	IV	No		IT
McCanta et al^Citation88	V		IT
McKenzie et al^Citation89	IV	No		IT
Mejia et al^Citation90	V	No		P, IT
Momoi et al^Citation91	V	Yes
Monteiro et al^Citation92	V		P
Moric-Janiszewska and Markiewicz-Łoskot^Citation93	V	No		IT
Osman et al^Citation94	IV	No		P
Poloncová and Griač^Citation95	V	No		P
Raches and Mazzocco^Citation96	IV	No		IT
Raja and Greenberg^Citation97	V	No		IT
Raval and Kamp^Citation98	V	No		P, IT
Reynolds et al^Citation9	IV	No		IT
Reynolds et al^Citation10 (in press)	IV	No		IT
Rigaud et al^Citation6	IV		IT
Roberts et al^Citation99	IV	No		IT
Ronvelia et al^Citation100	V	No		IT
Sabater-Molina et al^Citation101	V		IT
Saini-Chohan et al^Citation102	V	No		IT
Schlame and Ren^Citation103	V	No		IT
Schug et al^Citation104	V	No		IT, P
Singh et al^Citation105	V		IT
Soustek et al^Citation106	IV	No		P
Sparagna and Lesnefsky^Citation107	V	Yes
Spencer et al^Citation108	IV	No		IT
Spencer et al^Citation109	IV	No		IT
Spencer et al^Citation110	V	No		IT
Steward et al^Citation111	V	No		IT
Storch et al^Citation112	IV		IT
Sweeney et al^Citation113	V		IT
Tajima et al^Citation114	V	Yes
Takeda et al^Citation2	V	Yes
Takeda et al^Citation115	V	No		IT
Tikhomirov et al^Citation116	V	No		IT
Towbin^Citation117	V	No		P, IT
Valianpour et al^Citation118	IV	No		IT
van Raam and Kuijpers^Citation119	V	No		IT
van Werkhoven et al^Citation120	IV	No		P, IT
Vernon et al^Citation121	IV	No		IT
Wan et al^Citation122	IV		IT
Wang et al^Citation123	IV		IT
Whited et al^Citation124	IV	No		P, IT
Wilson et al^Citation125	IV	No		IT
Wortmann et al^Citation126	V	No		IT
Xing et al^Citation127	IV	No		IT
Xu et al^Citation128	IV	No		P
Xu et al^Citation129	IV	No		IT
Ye et al^Citation130	V	No		IT
Yen et al^Citation131	V		IT
Zaragoza et al^Citation132	V	No		IT
Zweigerdt et al^Citation133	V		P, IT

Notes: P indicates population that does not include human males with Barth syndrome; IT indicates that intervention used cannot be classified as a medical or rehabilitative treatment, therapy, or technique used to improve health, well-being, or level of functioning.

Abbreviation: BSF, Barth Syndrome Foundation.

Table 2 Articles excluded after full-text review

Citation	Level of evidence	Reason to exclude
Ances et al^Citation18	V	IT
Feillet-Coudray et al^Citation44	IV	P
Ferri et al^Citation5	V	IT
Finsterer^Citation45	V	P
Finsterer and Stöllberger^Citation48	V	P, IT
Finsterer and Stöllberger^Citation49	V	P
Finsterer et al^Citation51	V	P
Garratt et al^Citation4	V	IT
Honzik et al^Citation65	IV	IT
Kulik et al^Citation77	IV	IT
McCanta et al^Citation88	V	IT
Monteiro et al^Citation92	V	P
Sparagna and Lesnefsky^Citation107	V	P
Wan et al^Citation122	IV	P
Wang et al^Citation123	IV	P
Zweigerdt et al^Citation133	V	P

Notes: P indicates population that does not include human males with Barth syndrome; IT indicates that intervention used cannot be classified as a medical or rehabilitative treatment, therapy, or technique used to improve health, well-being, or level of functioning.

Table 3 Articles included in systematic review

Study/Design	Population	Interventions/services recommended	Related outcomes
Aljishi and Ali^Citation17 Case report	6-year-old male with Barth syndrome	Medical: digoxin, furosemide, and captopril Dietary: oral carnitine supplementation	Acquisition of developmental milestones, normalization of liver size, improvement of ejection fraction on echocardiogram Poor tolerance of carnitine
Aprikyan and Khuchua^Citation19 Literature review	Barth syndrome	Medical: Granulocyte Colony-Stimulating Factor (G-CSF)	Increased levels of circulating neutrophils resulting in reduced frequency of infection
Avery^Citation20 Fact sheet	Barth syndrome	Dietary: cornstarch given before bedtime	Prevention of hypoglycemia and minimization of muscle protein loses overnight
Bachou et al^Citation21 Case report	5.5-month-old with Barth syndrome	Medical: G-CSF Medical: digoxin, diuretics, and angiotensin converting enzyme (ACE inhibitors)	Neutrophil count sustained near normal levels, fewer infections Cardiac function deteriorated leading to heart failure and death at 28 months
Barth Syndrome Foundation^Citation23 Fact sheet	Barth syndrome	Medical: ACE inhibitors, diuretics, vasodilators, β-blockers, cardiac glycosides (eg, digoxin), inotropes, anticoagulants, angiotensin II receptor blockers, calcium channel blockers Medical: antiarrhythmic medications, pacemaker, or implantable cardioverter defibrillator (ICD) Medical: G-CSF, antibiotics Dietary: daily vitamin–mineral supplement, mitochondrial cocktail (eg, mitochondrial cofactors), vitamin C (eg, ascorbic acid), and potassium, L-carnitine	Medicines are often given in combination to prevent symptoms of heart failure. Side effects are common Medicines for arrhythmias alter electrical conduction in the heart or block impulses that can lead to abnormal heart rhythms. If drug therapy does not work, implanted devices are an alternative option G-CSF stimulates formation and maturation of neutrophils in bone marrow, decreasing infection. Side effects include headache and bone pain. Antibiotics can be used to stop spread of infection No significant benefit has been found with the use of the supplement carnitine. Prescription of potassium should be based on blood levels and closely monitored
Barth Syndrome Foundation^Citation24 Fact sheet	Barth syndrome	Dietary: intravenous (IV) fluids containing potassium Dietary: daily multivitamin with minerals Feeding aids: Nasogastric (NG) tube, gastrostomy button, IV fluid bag, bolus feedings Feeding aids: preemie nipple, supplemental nutrition system, syringe, Habermann feeder, consultation with lactation specialist Feeding strategies: giving choices to a child, do not force feed, small portions, slowly introduce new foods	Potassium in IV fluids can cause hyperkalemia, must be done with caution Multivitamins can be used to prevent vitamin and other minor nutrient deficiencies Feeding tubes can provide appropriate nutrition and caloric intake to help maintain/gain weight Adaptive feeding strategies may increase feeding capabilities for children with low muscle tone, oral fatigue, or poor coordination of suck
Bowen et al^Citation26 Fact sheet	Barth syndrome	Medical: topical or oral corticosteroids, mouth rinses	Used for treatment and pain relief of mouth ulcers secondary to neutropenia
Clarke et al^Citation7 Literature review	Barth syndrome	Medical: cardiac medications (ACE inhibitors, β-blockers, digoxin, and diuretics), cardiac transplant, ICD, G-CSF, prophylactic antibiotics Rehabilitative: mobility aids Educational: special education Dietary: L-carnitine, pantothenic acid supplements, dietary supplementation with arginine, cornstarch supplements may be used at bedtime Feeding aid: NG or gastrostomy tube	Most Barth patients need to be maintained on standard cardiac medications throughout childhood; no published studies had analyzed the efficacy of these ICD may minimize sudden death due to ventricular arrhythmia G-CSF is widely used for the treatment of neutropenia Mobility aids used to conserve energy No evidence for use of carnitine or pantothenic acid supplements No drug or food supplement has so far been shown to be conclusively beneficial
Dedieu et al^Citation39 Case report	3-year-old with Barth syndrome	Medical-prolonged ventricular assistance with the Berlin Heart EXCOR	Successful bridge to heart transplant
Finsterer and Frank^Citation47 Literature review	Barth syndrome	Rehabilitative: physiotherapy Dietary: carnitine supplementation Medical: application of lactate-lowering agents, biweekly injection of G-CSF Medical: ventricular assist device as bridge to heart transplant, placement of an in-line oxygenator to maintain end-organ function	May improve muscle weakness Normalized levels of carnitine Reduction of lactic acidosis and increase in neutrophil count Successful cardiac transplantation
Folsi et al^Citation54 Case report	Male with Barth syndrome (birth to 2 years)	Medical: G-CSF, furosemide intravenously, captopril, spironolactone, carvedilol, enalapril, aldactazide medications	Discharge from hospital in stable cardiac condition with maintenance of function post-discharge
Hanke et al^Citation60 Case report	Male with Barth syndrome (3 days old)	Medical: mechanical circulatory support, in-line oxygenator (Quadrox iD), Berlin EXCOR biventricular device (Bi-VAD), cardiac transplant, G-CSF	Successful cardiac transplantation 24 days after Bi-VAD placement
Huang et al^Citation69 Case report	11-month-old male with Barth syndrome	Medical: mitral valvuloplasty, furosemide, captopril, and aspirin	Mitral annuloplasty could be used as an alternative to heart transplant for infant with severe heart failure and mitral regurgitation
Huhta et al^Citation70 Case report	18-year-old male with Barth syndrome	Medical: G-CSF, carvedilol, methadone, atrial intracardiac defibrilalator (AICD) implantation Feeding aid: gastrostomy and PEG tube	Carvedilol improved heart function, while G-CSF was used to address neutropenia
Jefferies^Citation3 Literature review	Barth syndrome	Medical: G-CSF possibly combined with appropriate prophylactic antibiotics Medical: Growth hormone (GH) supplementation Dietary: arginine supplementation Medical: ACE inhibitors, angiotensin receptor blockers, β-blockers, potassium-sparing diuretics, IV agents such as vasodilators and inotropes Medical: mechanical circulatory support (Berlin EXCOR device), cardiac transplantation Medical: ICDs	Treatment of neutropenia GH supplementation is not routinely used to address growth delays since levels seem to normalize in the late teens and early 20s. Arginine supplementation may be used as possible treatment to improve growth rate Cardiac medications can be used to alleviate symptoms of heart failure and prolong life Successful transplants and bridges to transplant have been reported Limited data regarding the effectiveness of ICDs for management of arrhythmias in Barth syndrome
Kelley^Citation8 Fact sheet	Barth syndrome	Dietary: IV fluids containing potassium, parenteral amino acid nutrition, or IV supplemental amino acids	Management of diarrheal illness
Malhotra et al^Citation82 Literature review	Barth syndrome	Medical: β-blockers (eg, carvedilol, metoprolol, bisoprolol), cardiac glycosides (eg, digoxin), diuretics (eg, furosemide, ethacrynic acid), cytokines (eg, G-CSF)	Use of multiple drugs simultaneously (polypharmacy) may lead to inadvertent life-threatening consequences in some children with Barth syndrome
Mangat et al^Citation84 Case reports	Four males with Barth syndrome: ages 2 years, 3.5 years, 1.5 years, and 10 months	Medical: cardiac transplant	To date, all children have normal coronary angiography No clear benefit to using either carnitine or pantothenic acid
Marziliano et al^Citation85 Case report	12-year-old male with Barth syndrome	Medical: inotropic agents, ACE inhibitors, and diuretics	Progressive improvement of left ventricle function
Rigaud et al^Citation6 Cohort study	22 males with Barth syndrome	Medical: inotropic support, invasive ventilation, ventricular assist device, cardiac transplant, echocardiograms Medical: ACE inhibitors, β-blockers, digoxin, diuretics, anticoagulants, aspirin Medical: G-CSF, antibiotic prophylaxis Feeding aid: long-term enteral nutritional support Dietary: arginine supplementation	Systematic use of β-blockers and modern inotropic drugs such as milrinone has decreased the incidence of heart failure Neutropenia seemed to respond well to G-CSF, though two episodes of severe infection occurred while patients were on G-CSF therapy Arginine may improve growth rate of patients with Barth syndrome
Sabater-Molina et al^Citation101 Case report	30-year-old male with Barth syndrome	Medical: β-blockers, losartan	Good tolerance of medications: symptom benefit related to fatigue and muscular claudication
Singh et al^Citation105 Case report	7-month-old male with Barth syndrome	Medical: mechanical support via a Berlin left ventricular assistive device implantation followed by extra corporeal membrane oxygenation (ECMO), orthotropic cardiac transplantation at the age of 2 years Rehabilitative: physical therapy	Muscle tone improved with physical therapy
Storch et al^Citation112 Descriptive comparison	Boys with Barth syndrome (n=34) and healthy controls (n=22); ages 2–25 years	Educational: accommodations including classroom seating changes, rest periods, schedule adjustments, note takers, extra books for home use, alternative assignments, medication administration at school, extra tutorials, use of tape recorders, peer mentors Psychological: monitored by school psychologist or guidance counselor Dietary: special diet at school	Supports were in place to improve school functioning in boys with Barth syndrome
Sweeney et al^Citation113 Case report	Male with Barth syndrome (birth to 20 months)	Medical: treatment with digoxin, captopril, lasix; sent home from hospital on monitor and supplemental oxygen	Patient died at 20 months of age Digoxin therapy appeared to have been effective in improving heart function as evidenced by the patient’s decompensation upon its withdrawal
Tajima et al^Citation114 Case report	18-year-old male with Barth syndrome	Dietary: magnesium supplementation	Slight improvement in muscle strength, normalization of serum magnesium levels
Takeda, et al^Citation2 Literature review	Barth syndrome	Medical: ACE inhibitors, β-blockers, diuretics, cardiac transplantation Medical: G-CSF, parenteral antibiotics Medical: ICD placement	Heart failure is mostly responsive to standard medication therapy; successful heart transplantation has also been reported in patients with severe heart failure Neutropenia can usually be managed with parenteral antibiotics and GCS-F therapy Prevention of sudden death has been documented with placement of ICD No treatment needed for hypotonia because it usually improves spontaneously
Yen et al^Citation131 Case report	11-month-old male with Barth syndrome	Medical-emergent mitral valve replacement	Improved symptoms related to mitral insufficiency; patient waitlisted for cardiac transplantation

Abbreviations: Bi-VAD, biventricular assist device; PEG, percutaneous endoscopic gastrostomy.

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