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Hypertrophic obstructive cardiomyopathy and lentiginosis: a little known neural ectodermal syndrome
Insights
This study describes hypertrophic obstructive cardiomyopathy (HOCM) with lentiginosis in 11 patients, noting it affects adults and is not clearly inherited. Surgical intervention improved symptoms in most severely affected individuals.
Area of Science:
- Cardiology
- Genetics
- Medical conditions
Background:
- Hypertrophic obstructive cardiomyopathy (HOCM) is a complex cardiac condition.
- Lentiginosis is a distinct skin pigmentation disorder.
- Previous reports on HOCM with lentiginosis primarily focused on pediatric cases and suggested a genetic link.
Purpose of the Study:
- To describe the clinical characteristics of patients with hypertrophic obstructive cardiomyopathy and lentiginosis.
- To investigate the phenotypic variability and inheritance patterns of this combined condition.
- To evaluate the efficacy of surgical treatment for symptomatic patients.
Main Methods:
- Case series describing 11 patients with HOCM and lentiginosis.
- Clinical examinations and detailed family studies.
- Cardiac catheterization and left ventricular angiography.
- Surgical septal myotomy/myectomy in symptomatic patients.
Main Results:
- The condition affected both children and adults, unlike previous reports.
- Key features like mental retardation and deafness were rare or absent.
- No clear evidence of inheritance was found in family studies.
- All 9 catheterized patients had left ventricular outflow obstruction; 3 also had right ventricular outflow obstruction.
- 7 of 10 severely symptomatic patients underwent successful septal myotomy/myectomy with sustained improvement.
Conclusions:
- HOCM with lentiginosis presents with variable phenotypes and may not be confined to children.
- The condition does not appear to follow a clear Mendelian inheritance pattern.
- Surgical intervention is effective for relieving symptoms in severely affected patients with significant left ventricular outflow obstruction.
Abstract:
Eleven patients, 10 male, with classic hypertrophic obstructive cardiomyopathy and lentiginosis are described. Physical examination showed differences from the few previously reported cases in that (1) this condition was not confined to children; (2) mental retardation, sensorineural deafness and gonadal and somatic infantilism were either rare or absent; and (3) detailed family studies provided no evidence that this condition was inherited. Nine patients underwent cardiac catheterization and left ventricular angiography; all had left ventricular outflow obstruction and three had concomitant right ventricular outflow obstruction with a pressure gradient in excess of 100 mm Hg. Ten of the 11 patients were severely symptomatic, and 7, each with a left ventricular pressure gradient of more than 70 mm Hg, underwent successful septal myotomy/myectomy that resulted in marked symptomatic improvement that was maintained after long-term follow-up.