{"id":1269,"date":"2021-10-21T17:39:22","date_gmt":"2021-10-21T17:39:22","guid":{"rendered":"https:\/\/barthsyndrome.ca\/?page_id=1269"},"modified":"2021-11-19T20:47:47","modified_gmt":"2021-11-19T20:47:47","slug":"other-important-findings-by-system","status":"publish","type":"page","link":"https:\/\/barthsyndrome.ca\/barth-syndrome-overview\/other-important-findings-by-system\/","title":{"rendered":"Other Important Findings by System"},"content":{"rendered":"<p><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container fusion-parallax-none nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-background-position:center top;--awb-background-blend-mode:darken;--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-padding-top:16%;--awb-padding-bottom:3%;--awb-background-image:linear-gradient(0deg, rgba(10,92,152,0) 59%,#0a5c98 100%),url(https:\/\/barthsyndrome.ca\/wp-content\/uploads\/2021\/10\/BarthBackground-Family-2.jpg);;--awb-background-size:cover;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:calc( 1140px + 0px );margin-left: calc(-0px \/ 2 );margin-right: calc(-0px \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_2_5 2_5 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:40%;--awb-margin-top-large:0px;--awb-spacing-right-large:0px;--awb-margin-bottom-large:0px;--awb-spacing-left-large:0px;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:0px;--awb-spacing-left-medium:0px;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:0px;--awb-spacing-left-small:0px;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><\/div><\/div><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-1 fusion_builder_column_3_5 3_5 fusion-flex-column fusion-animated\" style=\"--awb-padding-bottom:126px;--awb-bg-position:center center;--awb-bg-size:cover;--awb-width-large:60%;--awb-margin-top-large:0px;--awb-spacing-right-large:0px;--awb-margin-bottom-large:0px;--awb-spacing-left-large:0px;--awb-width-medium:100%;--awb-spacing-right-medium:0px;--awb-spacing-left-medium:0px;--awb-width-small:100%;--awb-spacing-right-small:0px;--awb-spacing-left-small:0px;\" data-animationType=\"fadeInUp\" data-animationDuration=\"1.0\" data-animationOffset=\"top-into-view\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-1 fusion-sep-none fusion-title-center fusion-title-text fusion-title-size-two\" style=\"--awb-text-color:#ffffff;--awb-font-size:65px;\"><h2 class=\"fusion-title-heading title-heading-center fusion-responsive-typography-calculated\" style=\"margin:0;font-size:1em;letter-spacing:-3px;--fontSize:65;line-height:1;\">Other Important Findings by System<\/h2><\/div><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-2 fusion-flex-container nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-padding-top:6%;--awb-padding-bottom:4%;--awb-background-color:rgba(247,235,249,0);--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:calc( 1140px + 0px );margin-left: calc(-0px \/ 2 );margin-right: calc(-0px \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-2 fusion_builder_column_3_4 3_4 fusion-flex-column fusion-animated\" style=\"--awb-padding-right:40px;--awb-padding-bottom:20px;--awb-bg-size:cover;--awb-width-large:75%;--awb-margin-top-large:0px;--awb-spacing-right-large:0px;--awb-margin-bottom-large:0px;--awb-spacing-left-large:0px;--awb-width-medium:100%;--awb-spacing-right-medium:0px;--awb-spacing-left-medium:0px;--awb-width-small:100%;--awb-spacing-right-small:0px;--awb-spacing-left-small:0px;\" data-animationType=\"fadeInUp\" data-animationDuration=\"1.0\" data-animationOffset=\"top-into-view\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\"><h3 class=\"\" style=\"--fontsize: 30; line-height: 1.33;\" data-fontsize=\"30\" data-lineheight=\"39.9px\">Cardiac<\/h3>\n<ul>\n<li>Congestive heart failure<\/li>\n<li>Risk of serious arrhythmia, including sudden cardiac death<\/li>\n<li>Left ventricle non-compaction<\/li>\n<li>Hypertrabeculation or deepened trabeculations of the heart<\/li>\n<li>Loss of cross-striations of the heart<\/li>\n<li>Septal defects<\/li>\n<li>Endocardial Fibroelastosis<\/li>\n<\/ul>\n<h3 class=\"\" style=\"--fontsize: 30; line-height: 1.33;\" data-fontsize=\"30\" data-lineheight=\"39.9px\">Neurological<\/h3>\n<p>Neurological assessment is generally normal with exception of muscle weakness and its consequences, such as decreased stretch reflexes or strabismus. The intellect of children with Barth syndrome is normal. Commonly, children with Barth syndrome are reported to be globally delayed, but more often than not, most of the disability is motor and not cognitive in nature. Mild to moderate learning disabilities have been associated with visual-spatial and arithmetic reasoning [<u><a href=\"https:\/\/barthsyndrome.ca\/barth-syndrome-overview\/references\/\" target=\"_blank\" rel=\"noopener noreferrer\">Mozzocco et al (2001)<\/a><\/u>]<sup>12<\/sup>.<\/p>\n<p>A floppy infant or child may be referred to the neurologist without any other relevant background information, and may actually have:<\/p>\n<ul>\n<li>Cardioskeletal myopathy<\/li>\n<li>Lipid myopathy<\/li>\n<li>3-methylgultaconic aciduria (Type II)<\/li>\n<\/ul>\n<p>A child may also present in the pediatric neurology setting through a referral from another sub-specialist prior to or subsequent to a diagnosis. The child with Barth syndrome could easily present for an array of reasons.<\/p>\n<h3 class=\"\" style=\"--fontsize: 30; line-height: 1.33;\" data-fontsize=\"30\" data-lineheight=\"39.9px\">Neuromuscular symptoms of Barth syndrome:<\/h3>\n<ul>\n<li>Muscle involvement mainly in a limb girdle distribution<\/li>\n<li>Under-developed muscle mass<\/li>\n<li>Moderate weakness, permitting unsupported walking<\/li>\n<li>Exercise intolerance, lack of stamina unrelated to cardiac disease<\/li>\n<li>Absence of contractures<\/li>\n<li>No involvement of bulbar musculature, with the exception of occasional mild facial weakness<\/li>\n<li>No involvement of extra-ocular muscles or diaphragm<\/li>\n<li>Positive Gowers&#8217; sign [please see &#8220;Neurological Diagnostic Criteria for Barth Syndrome Presentation&#8221; below]<\/li>\n<li>Delayed gross motor development in early childhood<\/li>\n<li>Fatigue: (NOTE: in some cases quite severe) This symptom may be chronic; rapid exhaustion upon exertion<\/li>\n<li>Skeletal muscle weakness and hypotonia (NOTE: Hypotonia is frequently reported as the earliest symptom either in the newborn or neonate period. Muscle mass is markedly reduced in most children which also contributes to the appearance of failure-to-thrive.)<\/li>\n<li>Pain: Abdominal and Headaches<\/li>\n<li>Waddling gait<\/li>\n<\/ul>\n<p>View Presentation: <u><a href=\"https:\/\/barthsyndrome.ca\/wp-content\/uploads\/2021\/10\/DiagnosticParadigmPresentation2006.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Neurological Diagnostic Criteria for Barth Syndrome<\/a><\/u>.<\/p>\n<h3 class=\"\" style=\"--fontsize: 30; line-height: 1.33;\" data-fontsize=\"30\" data-lineheight=\"39.9px\">Gastrointestinal<\/h3>\n<ul>\n<li>Frequent diarrhea or constipation<\/li>\n<\/ul>\n<h3 class=\"\" style=\"--fontsize: 30; line-height: 1.33;\" data-fontsize=\"30\" data-lineheight=\"39.9px\">Immunology\/Haematology<\/h3>\n<ul>\n<li>Recurrent aphthous ulcers: Not always relative with neutropenia; however, the risk of secondary infection should not be underappreciated. These ulcers are painful lesions. Feeding difficulties may be encountered during eruptions. Size, frequency, severity and number vary.<\/li>\n<li>Recurrent focal or systemic infections: These can cause life-threatening infections during the early years of life [<u><a href=\"https:\/\/barthsyndrome.ca\/barth-syndrome-overview\/references\/\" target=\"_blank\" rel=\"noopener noreferrer\">Barth et al (1983)<\/a><\/u><sup>1<\/sup>].<\/li>\n<\/ul>\n<h3 class=\"\" style=\"--fontsize: 30; line-height: 1.33;\" data-fontsize=\"30\" data-lineheight=\"39.9px\">Metabolism<\/h3>\n<ul>\n<li>Feeding problems: In some cases assistive feeding devices are required.<\/li>\n<li>Cardiolipin deficiency: The defective remodeling of cardiolipin affects the inner membrane and integrity of the mitochondria. [view image: About Barth Syndrome: <u><a href=\"https:\/\/barthsyndrome.ca\/wp-content\/uploads\/2021\/10\/Myocardialmitochondrion.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Myocardial mitochondrion<\/a><\/u>.]<\/li>\n<\/ul>\n<h3 class=\"\" style=\"--fontsize: 30; line-height: 1.33;\" data-fontsize=\"30\" data-lineheight=\"39.9px\">Endocrine<\/h3>\n<ul>\n<li>Hypoglycemia: Including fasting hypoglycemia in newborn period.<\/li>\n<li>Low bone density: Severity ranges from osteopenia to osteoporosis.<\/li>\n<li>Growth delays: Abnormal growth pattern that parallels constitutional growth delay, but with greater severity (short stature in early years, followed by accelerated growth rate in late puberty)<\/li>\n<\/ul>\n<h3 class=\"\" style=\"--fontsize: 30; line-height: 1.33;\" data-fontsize=\"30\" data-lineheight=\"39.9px\">Other Characteristics<\/h3>\n<p>Isolated malformations have been observed with an unusually high frequency (up to 25% of patients). Collectively, these do not suggest any known malformation mechanism, but their diversity is surprising.<\/p>\n<p>Out of a total of 23 patients in 2002, the following malformations were found by history or examination {# patients}:<\/p>\n<ul>\n<li>Postaxial polydactyly (hand and foot) {1}<\/li>\n<li>Bilateral iris colobomas {1}<\/li>\n<li>Preauricular skin tags {6}<\/li>\n<li>Dermoid cyst of the orbit {1}<\/li>\n<li>Persistent urachus {1}<\/li>\n<li>Multiple congenital pigmented nevi {6}<\/li>\n<li>Transposition of the great arteries {2}<\/li>\n<li>Large or multiple VSDs {5}<\/li>\n<\/ul>\n<p>In addition, about 25% of patients have abnormal left ventricular trabeculation or frank non-compaction of the left ventricle.<\/p>\n<\/div><div class=\"fusion-separator fusion-full-width-sep\" style=\"align-self: center;margin-left: auto;margin-right: auto;margin-top:20px;width:100%;\"><\/div><\/div><\/div><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-3 fusion_builder_column_1_4 1_4 fusion-flex-column fusion-animated\" style=\"--awb-padding-top:20px;--awb-padding-right:20px;--awb-padding-bottom:20px;--awb-padding-left:20px;--awb-bg-color:#f2f2f2;--awb-bg-color-hover:#f2f2f2;--awb-bg-size:cover;--awb-width-large:25%;--awb-margin-top-large:0px;--awb-spacing-right-large:0px;--awb-margin-bottom-large:0px;--awb-spacing-left-large:0px;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:0px;--awb-spacing-left-medium:0px;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:0px;--awb-spacing-left-small:0px;\" data-animationType=\"bounceInLeft\" data-animationDuration=\"1.3\" data-animationOffset=\"top-into-view\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-2\"><p style=\"font-size: 23px; font-family: Karla; font-weight: 600; color: #0a5c98;\" data-fusion-font=\"true\" data-fusion-google-font=\"Karla\" data-fusion-google-variant=\"600\">Resource Documents<\/p>\n<\/div><ul style=\"--awb-size:18px;--awb-iconcolor:#bf1e2e;--awb-line-height:30.6px;--awb-icon-width:30.6px;--awb-icon-height:30.6px;--awb-icon-margin:12.6px;--awb-content-margin:43.2px;\" class=\"fusion-checklist fusion-checklist-1 fusion-checklist-default fusion-checklist-divider type-icons\"><li class=\"fusion-li-item\" style=\"\"><span class=\"icon-wrapper circle-no\"><i class=\"fusion-li-icon fa-file-pdf fas\" aria-hidden=\"true\"><\/i><\/span><div class=\"fusion-li-item-content\">\n<p><a href=\"https:\/\/barthsyndrome.ca\/wp-content\/uploads\/2021\/10\/Myocardialmitochondrion.pdf\">Myocardial mitochondrion<\/a><\/p>\n<\/div><\/li><li class=\"fusion-li-item\" style=\"\"><span class=\"icon-wrapper circle-no\"><i class=\"fusion-li-icon fa-file-pdf fas\" aria-hidden=\"true\"><\/i><\/span><div class=\"fusion-li-item-content\">\n<p><a href=\"https:\/\/barthsyndrome.ca\/wp-content\/uploads\/2021\/10\/DiagnosticParadigmPresentation2006.pdf\">Neurological Diagnostic Criteria for Barth Syndrome<\/a><\/p>\n<\/div><\/li><\/ul><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-3 fusion-flex-container fusion-parallax-none nonhundred-percent-fullwidth non-hundred-percent-height-scrolling fusion-animated\" style=\"--awb-background-position:center bottom;--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-padding-bottom:4%;--awb-background-image:linear-gradient(180deg, #ffffff 0%,rgba(231,204,182,0.49) 100%),url(https:\/\/barthsyndrome.ca\/wp-content\/uploads\/2019\/10\/cta-background-mandala.jpg);;--awb-background-size:cover;--awb-flex-wrap:wrap;\" data-animationType=\"bounceInDown\" data-animationDuration=\"1.1\" data-animationOffset=\"top-into-view\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1185.6px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-4 fusion_builder_column_1_6 1_6 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:16.666666666667%;--awb-margin-top-large:0px;--awb-spacing-right-large:11.52%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:11.52%;--awb-width-medium:100%;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><\/div><\/div><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-5 fusion_builder_column_2_3 2_3 fusion-flex-column fusion-animated\" style=\"--awb-padding-top:60px;--awb-padding-right:30px;--awb-padding-bottom:60px;--awb-padding-left:30px;--awb-overflow:hidden;--awb-bg-color:#ffffff;--awb-bg-color-hover:#ffffff;--awb-bg-image:linear-gradient(0deg, rgba(231,204,182,0.76) 0%,rgba(231,204,182,0) 100%);--awb-bg-size:cover;--awb-box-shadow:0px 10px 30px 0px rgba(204,176,146,0.88);;--awb-border-radius:12px 12px 12px 12px;--awb-width-large:66.666666666667%;--awb-margin-top-large:-30px;--awb-spacing-right-large:2.88%;--awb-margin-bottom-large:60px;--awb-spacing-left-large:2.88%;--awb-width-medium:100%;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\" data-animationType=\"rubberBand\" data-animationDuration=\"1.7\" data-animationOffset=\"top-into-view\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-2 fusion-sep-none fusion-title-center fusion-title-text fusion-title-size-two\" style=\"--awb-margin-top:-30px;--awb-margin-bottom:10px;--awb-margin-bottom-small:10px;--awb-font-size:60px;\"><h2 class=\"fusion-title-heading title-heading-center fusion-responsive-typography-calculated\" style=\"margin:0;font-size:1em;--fontSize:60;line-height:1;\">Donate please!<\/h2><\/div><div class=\"fusion-text fusion-text-3\"><p style=\"text-align: center;\">The Barth Syndrome Foundation of Canada is a completely volunteer, charitable foundation. We fund critical research and provide support and information to affected individuals, families, and medical professionals.<\/p>\n<\/div><div style=\"text-align:center;\"><a class=\"fusion-button button-flat fusion-button-default-size button-default fusion-button-default button-1 fusion-button-default-span fusion-button-default-type\" style=\"--button_text_transform:uppercase;\" target=\"_self\" href=\"https:\/\/barthsyndrome.ca\/donate\/\"><span class=\"fusion-button-text\">Click Here to DOnate<\/span><\/a><\/div><\/div><\/div><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-6 fusion_builder_column_1_6 1_6 fusion-flex-column fusion-no-small-visibility fusion-no-medium-visibility\" style=\"--awb-bg-size:cover;--awb-width-large:16.666666666667%;--awb-margin-top-large:0px;--awb-spacing-right-large:11.52%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:11.52%;--awb-width-medium:100%;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><\/div><\/div><\/div><\/div>\n<\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":4,"featured_media":0,"parent":1092,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"100-width.php","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.5 - 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