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familial hypertrophic cardiomyopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial hypertrophic cardiomyopathy

MONDO:0024573

Also known as:cardiomyopathy, familial hypertrophicfamilila or idiopathic hypertrophic obstructive cardiomyopathyhereditary hypertrophic cardiomyopathy

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Overview

Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.

OnsetCONGENITAL, MIDDLE_AGE, INFANTILE

Clinical Trials3 registered · 2 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: at birth, middle age, infancy.

GeneReviews

Clinical Guidance

Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia (persistent hypoglycemia or transient hypoglycemia due to hyperinsulinemia), macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, kidney abnormalities (e.g., medullary dysplasia, nephrocalcinosis, and medullary sponge kidney), and ear creases/ posterior helical ear pits. BWS is considered a clinical spectrum, in which affected individuals may have many or only one or two of the characteristic clinical features. General incidence figures for the clinical findings in Beckwith-Wiedemann syndrome (BWS) are summarized in ; however, specific figures vary widely in published reports, in part due to ascertainment bias and the mosaic nature of the condition in many affected individuals. Table 2. Beckwith-Wiedemann Syndrome: Frequency of Select Features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

The phenotypic presentation of Beckwith-Wiedemann syndrome (BWS) is highly variable, and no consensus clinical diagnostic criteria are universally accepted at this time. Clinical diagnostic scoring systems have been proposed and can assist with guiding diagnostic considerations, genetic testing, and management . However, a cautious approach should be adopted especially given the implications for tumor surveillance. That is, children with a "mild" clinical presentation, those whose algorithm scores do not meet the threshold for a BWS clinical diagnosis, and/or those with nondiagnostic genetic testing results may still be at increased risk for tumor development.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for familial hypertrophic cardiomyopathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Clinical practice guidelines for Beckwith-Wiedemann syndrome have been published and most frequently focus on the issue of tumor screening protocols (see and ). Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Beckwith-Wiedemann syndrome, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 7. Beckwith-Wiedemann Syndrome: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Perspectives on screening for malignant tumors in childhood differ based on local, national, and international practices. In North America proactive tumor screening is often recommended when the risk of tumor development exceeds 1% [, , , , ]. In many European countries, proactive tumor screening protocols are typically undertaken when the risk of tumor development exceeds 5%, and as such, tumor screening is based on the risk associated with specific molecular mechanism . summarizes typical tumor screening protocols in North America. Surveillance has been shown to improve outcomes, including earlier detection of tumors . For general screening guidelines outside of tumor surveillance, see . Table 9. Beckwith-Wiedemann Syndrome: Tumor Surveillance Protocols1,2

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered, 2 recruiting. Interventions under study include other interventions and gene therapy. Pipeline includes 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

38 publications have been identified in PubMed for familial hypertrophic cardiomyopathy. Research spans Basic Science / Preclinical (24%), Epidemiology / Natural History (21%), and Case Report / Case Series (18%).

Research Type	Count	% of Total
Laboratory research	9

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:10 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:155

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Feature	Approximate % of Persons w/Feature1	Comment
Macroglossia	90%	—
Macrosomia	45%-65% (as high as 90%)	Defined as pre- /or postnatal overgrowth, often using a cutoff of 90th or 97th centile, depending on study
Anterior earlobe creases/ posterior helical ear pits	63%	The more common preauricular ear pits are not typically assoc w/BWS.
Prenatal polyhydramnios	53%	—
Facial nevus simplex	52%	Also referred to as nevus flammeus
Kidney anomalies	52%	—
Neonatal hypoglycemia	30%-60%	May be exacerbated by prematurity
Omphalocele	44%	—
Umbilical hernia/ diastasis recti	22%-44%	—
Hemihyperplasia	37%-65%	Also referred to as lateralized overgrowth
Nephromegaly on imaging	38%	Organomegaly may also incl hepatomegaly (37%) splenomegaly (16%).
Embryonal tumor	8%	Risk is correlated w/molecular alteration. Tumor risks vary from 2.6% to 28% .
Cardiac anomalies	13%	—
Cleft palate	3%	Adapted from and Data were collected retrospectively and potentially with significant ascertainment bias. Updated prospective and filtered data (e.g., macrosomia in the context of parental growth parameters, molecular subgroups) will need to be collected. Prenatal and perinatal.

GeneReviews

Differential Diagnosis

Overgrowth. Beckwith-Wiedemann syndrome (BWS) is often considered in the differential diagnosis of children presenting with overgrowth . It is important to note the existence of as-yet unclassified overgrowth syndromes that need to be differentiated from BWS. Of note: In children considered to have BWS and developmental delay who have a normal chromosome study, no history of hypoxia or hypoglycemia, and normal brain imaging, other causes of developmental delay need to be considered. Table 5. Overgrowth Disorders to Consider in the Differential Diagnosis of Beckwith-Wiedemann Syndrome

Gene(s)/ Genetic Mechanism	Disorder	MOI	Features of DiffDx Disorder
Overlapping w/BWS	Distinguishing from BWS Multilocus imprinting disturbances	Multilocus imprinting disorder	See footnote 1.
Mosaic or chimeric genome-wide paternal uniparental isodisomy	Mosaic or chimeric genome-wide paternal uniparental isodisomy	Sporadic	See .
Simpson-Golabi-Behmel syndrome type 1	XL	Macrosomia, visceromegaly, macroglossia, kidney anomalies, risk for embryonal tumors	Variable DD, facial features (coarse features, downslanted palpebral fissures, widely spaced eyes, macrostomia, midline groove in vermilion of lower lip), cleft lip, structural conduction cardiac abnormalities, skeletal abnormalities incl polydactyly
DIS3L2	Perlman syndrome (OMIM 267000)	AR	Macrosomia, high incidence of Wilms tumor
EZH2	Weaver syndrome (See EZH2-Related Overgrowth.)	AD2	Macrosomia, umbilical hernia
Sotos syndrome	AD2	Macrosomia	Facial features (dolichocephaly, frontal bossing, downslanted palpebral fissures, pointed chin), sparse hair in frontoparietal distribution, ID, macrocephaly DNMT3A
Tatton-Brown-Rahman syndrome	AD2	Macrosomia, cardiac anomalies	Macrocephaly, obesity, ID, ASD, behavioral/psychiatric issues, distinctive facies w/prominent central incisors, joint hypermobility, scoliosis, seizures, risk of myeloid leukemia HRAS
Costello syndrome	AD2	Can be similar to BWS in neonatal period (when affected infants present w/macrosomia).	—

Source: GeneReviews — "Beckwith-Wiedemann Syndrome"

System/Concern	Evaluation	Comment
Constitutional	Measurement of weight, length/height, head circumference	To assess for macrosomia or overgrowth
Endocrinologic	Measurement of pre-feed blood glucose level in neonates	To assess for hypoglycemia1; consider consultation w/endocrinologist
ENT/Mouth	Assessment for macroglossia cleft palate	Consider referral to plastic surgeon, ENT, or craniofacial team feeding specialist if macroglossia is a concern for those w/cleft palate. Dental/orthodontic assessment
Respiratory	Assessment of airway sufficiency	Particularly in neonates infants; most airway issues are related to macroglossia, which may either improve over time or require treatment. Consider sleep study
Gastrointestinal	Assessment for abdominal wall abnormalities, incl omphalocele umbilical hernia	Serum AFP level
Renal	Renal imaging can be achieved through baseline complete abdominal ultrasound (See Gastrointestinal in this table.)	To assess for kidney anomalies, nephromegaly, Wilms tumor If there is evidence of calcium deposits on renal ultrasound, consider urine calcium-to-creatinine ratio, CT of kidneys, referral to nephrologist.
Musculoskeletal	Clinical eval for hemihyperplasia	To incl assessment of:; Gross motor skills; PT (if delay in gross motor skills) /or orthopedic referral if leg length discrepancy 1 cm
Hearing	Audiologic eval	Assess for hearing loss in neonates or in those w/speech delay.
Cardiovascular	Clinical eval for signs/symptoms of cardiomyopathy or congenital heart defects	Comprehensive cardiac eval incl EKG echocardiography is recommended when a cardiac abnormality is suspected clinically or if genomic alteration is detected that deletes or duplicates part of KCNQ1 .
Development	Assessment of speech-language skills	Esp in those w/history of macroglossia Assessment of development
Genetic counseling	By genetics professionals6	To inform affected persons their families re nature, MOI, implications of BWS to facilitate medical personal decision making Family support resources

Assessment	Frequency	Comment
Abdominal ultrasound w/views of liver, adrenal glands, kidneys	Every 3 mos until age 4 yrs3	To screen primarily for hepatoblastoma Wilms tumor but also for adrenocortical carcinoma abdominal neuroblastoma
Renal ultrasound only	Every 3 mos from age 4-7 yrs	To screen for Wilms tumor
Serum AFP level	Every 3 mos until age 4 yrs	To screen for hepatoblastoma4,5 If AFP is elevated, imaging reveals no suspicious lesion, follow-up measurement of serum AFP concentration plus baseline liver function tests 4-6 wks later can be used to determine the trend in serum AFP concentrations over time.6
If the concentration is not decreasing, it is appropriate to undertake an exhaustive search for an underlying tumor. Physical exam by pediatrician, geneticist, or pediatric oncologist	2x/yr	Incl ongoing education about tumor signs/symptoms to aid in compliance
Proposed screening for neuroblastoma in children w/heterozygous pathogenic variant in CDKN1C Abdominal ultrasound	Every 3 mos until age 6 yrs, then every 6 mos until age 10 yrs	This screening has been variably incorporated into screenin...

Kisho

familial hypertrophic cardiomyopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Concealed cardiomyopathy in sudden childhood death: translation from molecular autopsy to family assessment.

Antiarrhythmic Drug Therapy in Cardiomyopathies: A Comparative Synthesis of Guidelines and Consensus Documents.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Capricor CEO won’t rule out legal action against FDA after negative adcomm

familial hypertrophic cardiomyopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Concealed cardiomyopathy in sudden childhood death: translation from molecular autopsy to family assessment.

Antiarrhythmic Drug Therapy in Cardiomyopathies: A Comparative Synthesis of Guidelines and Consensus Documents.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Capricor CEO won’t rule out legal action against FDA after negative adcomm